Bonnet-Dechaume-Blanc syndrome: Difference between revisions

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{{SK}} Wyburn mason's syndrome; Retinoencephalofacial angiomatosis
{{SK}} Wyburn mason's syndrome; Retinoencephalofacial angiomatosis
[[File:Intracerebral heamorrage.jpg|thumb|CT scan showing intracranial hemorrhage]]
==Overview==
==Overview==
Bonnet-Dechaume-Blanc syndrome or Wyburn mason's syndrome or Retinoencephalofacial [[angiomatosis]] is a rare [[arteriovenous malformation]] ([[Arteriovenous malformation|AVMs]]) condition. In The United States of America in order to categorise a [[condition]] as a [[rare disease]] it should affect fewer than 200,000 people. [[Rare diseases]] also called as [[Orphan disease|orphan diseases]]. [[Orphan Drug Act]] was passed on 1983 by congress for the [[rare diseases]]. Today an average of 25-30 million americans have been reported with [[rare diseases]]. The number of people with individual [[rare disease]] may be less but overall the number of people with [[rare diseases]] are large in number.
Bonnet-Dechaume-Blanc syndrome or Wyburn mason's syndrome or Retinoencephalofacial [[angiomatosis]] is a rare [[arteriovenous malformation]] ([[Arteriovenous malformation|AVMs]]) condition. The  special name for wyburn mason's syndrome is called congenital retinocephalofacial vascular malformation syndrome" ("CRC syndrome"). In The United States of America in order to categorise a [[condition]] as a [[rare disease]] it should affect fewer than 200,000 people. [[Rare diseases]] also called as [[Orphan disease|orphan diseases]]. [[Orphan Drug Act]] was passed on 1983 by congress for the [[rare diseases]]. Today an average of 25-30 million americans have been reported with [[rare diseases]]. The number of people with individual [[rare disease]] may be less but overall the number of people with [[rare diseases]] are large in number.


== Historical Perspective ==
== Historical Perspective ==
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* In 1932, Yates and Payne was the first to discover retinal and cerebral [[arteriovenous malformation]] ([[Arteriovenous malformation|AVMs]]) in patients with Bonnet-Dechaume-Blanc syndrome.<ref name="YatesPaine1930">{{cite journal|last1=Yates|first1=A. Gurney|last2=Paine|first2=C. G.|title=A CASE OF ARTERIOVENOUS ANEURYSM WITHIN THE BRAIN|journal=Brain|volume=53|issue=1|year=1930|pages=38–46|issn=0006-8950|doi=10.1093/brain/53.1.38}}</ref>
* In 1932, Yates and Payne was the first to discover retinal and cerebral [[arteriovenous malformation]] ([[Arteriovenous malformation|AVMs]]) in patients with Bonnet-Dechaume-Blanc syndrome.<ref name="YatesPaine1930">{{cite journal|last1=Yates|first1=A. Gurney|last2=Paine|first2=C. G.|title=A CASE OF ARTERIOVENOUS ANEURYSM WITHIN THE BRAIN|journal=Brain|volume=53|issue=1|year=1930|pages=38–46|issn=0006-8950|doi=10.1093/brain/53.1.38}}</ref>
* In 1937, Bonnet, Dechaume and Blanc was the first to discover [[Arteriovenous malformation|arteriovenous malformations]] in [[face]], [[retina]], and [[brain]].<ref name="BhattacharyaLuo2016">{{cite journal|last1=Bhattacharya|first1=J.J.|last2=Luo|first2=C.B.|last3=Suh|first3=D.C.|last4=Alvarez|first4=H.|last5=Rodesch|first5=G.|last6=Lasjaunias|first6=P.|title=Wyburn-Mason or Bonnet-Dechaume-Blanc as Cerebrofacial Arteriovenous Metameric Syndromes (CAMS)|journal=Interventional Neuroradiology|volume=7|issue=1|year=2016|pages=5–17|issn=1591-0199|doi=10.1177/159101990100700101}}</ref><ref name="Wyburn-Mason1943">{{cite journal|last1=Wyburn-Mason|first1=R.|title=ARTERIOVENOUS ANEURYSM OF MID-BRAIN AND RETINA, FACIAL NÆVI AND MENTAL CHANGES|journal=Brain|volume=66|issue=3|year=1943|pages=163–203|issn=0006-8950|doi=10.1093/brain/66.3.163}}</ref>
* In 1937, Bonnet, Dechaume and Blanc was the first to discover [[Arteriovenous malformation|arteriovenous malformations]] in [[face]], [[retina]], and [[brain]].<ref name="BhattacharyaLuo2016">{{cite journal|last1=Bhattacharya|first1=J.J.|last2=Luo|first2=C.B.|last3=Suh|first3=D.C.|last4=Alvarez|first4=H.|last5=Rodesch|first5=G.|last6=Lasjaunias|first6=P.|title=Wyburn-Mason or Bonnet-Dechaume-Blanc as Cerebrofacial Arteriovenous Metameric Syndromes (CAMS)|journal=Interventional Neuroradiology|volume=7|issue=1|year=2016|pages=5–17|issn=1591-0199|doi=10.1177/159101990100700101}}</ref><ref name="Wyburn-Mason1943">{{cite journal|last1=Wyburn-Mason|first1=R.|title=ARTERIOVENOUS ANEURYSM OF MID-BRAIN AND RETINA, FACIAL NÆVI AND MENTAL CHANGES|journal=Brain|volume=66|issue=3|year=1943|pages=163–203|issn=0006-8950|doi=10.1093/brain/66.3.163}}</ref>
[[File:Arteriovenous malformation.jpg|alt=retinal arteriovenous malformation|thumb|Fundus appearance of a typical retinal arteriovenous malformation(bag of worms).Picture courtesy by Singh AD Et Al <ref>{{Cite web|url=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2934709/|title=Vascular Tumors of the Retina and Choroid: Diagnosis and Treatment|last=|first=|date=|website=|archive-url=|archive-date=|dead-url=|access-date=}}</ref>]]
== Classification ==
* Arteriovenous malformations([[Arteriovenous malformation|AVM]]) may be classified according to Archer et al. into 3 groups:<ref name="DensCasteels2018">{{cite journal|last1=Dens|first1=Helena|last2=Casteels|first2=Ingele|title=Exudative Type 3 Retinal Arteriovenous Malformation in a Pediatric Patient|journal=Case Reports in Ophthalmology|volume=9|issue=3|year=2018|pages=504–509|issn=1663-2699|doi=10.1159/000495656}}</ref>
{| class="wikitable"
|'''Type 1'''
|Small arteriole-venule [[anastomoses]]
|Hard to detect clinically
|-
|'''Type 2'''
|Direct artery-vein communication devoid [[capillary]] network
|[[Edema]] and [[hemorrhage]] may occur
|-
|'''Type 3'''
|Dilated, [[tortuous]] retinal vessels
|Severe visual impairment
|}


== Pathophysiology ==
== Pathophysiology ==
* The exact [[pathogenesis]] of Bonnet-Dechaume-Blanc syndrome is not completely understood.
* The exact [[pathogenesis]] of Bonnet-Dechaume-Blanc syndrome is not completely understood.
* It is understood that Bonnet-Dechaume-Blanc syndrome may be caused by [[Genetics|genetic]] factors but which are involved are difficult to say.
* It is understood that Bonnet-Dechaume-Blanc syndrome may be caused by [[Genetics|genetic]] factors but which are involved are difficult to say.
* It is understood that Bonnet-Dechaume-Blanc syndrome is also may be caused by [[anomaly]] in [[organogenesis]].
* It is understood that Bonnet-Dechaume-Blanc syndrome is also may be caused by [[anomaly]] in [[organogenesis]].
*<nowiki/>Origin of [[Cell (biology)|cells]] of the [[Blood vessel|vessel wall]]<nowiki/>s in the cephalic region in the brain, and their migration may explain the connection between [[Lesion|lesions]] looks alike but at different locations in the body.
*<nowiki/><nowiki/><nowiki/><nowiki/><nowiki/><nowiki/><nowiki/>Origin of [[Cell (biology)|cells]] of the [[Blood vessel|vessel wall]]<nowiki/>s in the cephalic region in the brain, and their migration may explain the connection between [[Lesion|lesions]] looks alike but at different locations in the body.
* [[Visual system|Vision]] loss in patients with Bonne<nowiki/>t-Dechaume-Blanc syndrome can be due to [[retinal]] [[Arteriovenous malformation|arteriovenous malformations]]([[Arteriovenous malformation|AVM]]) which are tend to be large and lead to obscuration of the visual centers in the eye.
*<nowiki/><nowiki/><nowiki/>[[Visual system|Vision]] loss in patients with Bonne<nowiki/>t-Dechaume-Blanc syndrome can be due to [[retinal]] [[Arteriovenous malformation|arteriovenous malformations]]([[Arteriovenous malformation|AVM]]) which are tend to be large and lead to obscuration of the visual centers in the eye.  
* [[Visual system|Vision]] loss in patients with Bonne<nowiki/>t-Dechaume-Blanc syndrome can also be due to compression of [[retinal]] [[arteries]] by [[arteriovenous malformations]]([[Arteriovenous malformation|AVM]])  
*<nowiki/> <nowiki/>[[Visual system|Vision]] loss in patients with Bonne<nowiki/>t-Dechaume-Blanc syndrome can also be due to compression of [[retinal]] [[arteries]] by [[arteriovenous malformations]]([[Arteriovenous malformation|AVM]])
* In gestational period of the [[fetus]]<nowiki/> [[vascular]] [[dysgenesis]] of [[anterior]] [[plexus]] may occur and leads to [[Arteriovenous malformation|AVM]]<nowiki/>s.  
*<nowiki/><nowiki/> <nowiki/>In gestational period of the [[fetus]]<nowiki/> [[vascular]] [[dysgenesis]] of [[anterior]] [[plexus]] may occur and leads to [[Arteriovenous malformation|AVM]]<nowiki/>s.
* Large network of [[arteriovenous malformations|arteriovenous mal]]<nowiki/>[[arteriovenous malformations|formations]]([[Arteriovenous malformation|AVM]]) in an area look like "bag-of-worms" and are characterized by direct [[artery]]-to-[[vein]] communication devoid of [[capillaries]] that results in high [[pressure]] [[blood]] flow.  
*<nowiki/>Large network of [[arteriovenous malformations|arteriovenous mal]]<nowiki/>[[arteriovenous malformations|formations]]([[Arteriovenous malformation|AVM]]) in an area look like "bag-of-worms" and are characterized by direct [[artery]]-to-[[vein]] communication devoid of [[capillaries]] that results in high [[pressure]] [[blood]] flow.  


==== Microscopic Pathology ====
* On [[microscopic]] [[histopathological]] analysis, fibromuscular media and fibrohyaline [[adventitial]] coats are characteristic findings of [[retinal]] [[Arteriovenous malformation|AVMs]].


== Causes ==
== Causes ==
* The cause of Bonnet-Dechaume-Blanc syndrome has not been identified yet.
* The [[Causes|cause]] of Bonnet-Dechaume-Blanc syndrome has not been identified yet.


==== Genetic Causes ====
==== Genetic Causes ====
* Bonnet-Dechaume-Blanc syndrome may be is caused by a mutation in the genes.
* Bonnet-Dechaume-Blanc syndrome may be is caused by a [[mutation]] in the [[Gene|genes]].


== Risk Factors ==
== Risk Factors ==
* There are no established risk factors for Bonnet-Dechaume-Blanc syndrome.
* There are no established [[risk factors]] for Bonnet-Dechaume-Blanc syndrome.
 
== Natural History, Complications, and Prognosis ==
 
==== Natural History ====
* The [[symptoms]] of Bonnet-Dechaume-Blanc syndrome usually develop in the first decade of life, and start with [[symptoms]] such as visual-field abnormalities.
 
==== Complications ====
* Common complications of Bonnet-Dechaume-Blanc syndrome include:<ref name="pmid304512083">{{cite journal |vauthors=Pangtey BPS, Kohli P, Ramasamy K |title=Wyburn-Mason syndrome presenting with bilateral retinal racemose hemangioma with unilateral serous retinal detachment |journal=Indian J Ophthalmol |volume=66 |issue=12 |pages=1869–1871 |date=December 2018 |pmid=30451208 |pmc=6256888 |doi=10.4103/ijo.IJO_455_18 |url=}}</ref><ref name="pmid6421127">{{cite journal| author=Rothfus WE, Albright AL, Casey KF, Latchaw RE, Roppolo HM| title=Cerebellar venous angioma: "benign" entity? | journal=AJNR Am J Neuroradiol | year= 1984 | volume= 5 | issue= 1 | pages= 61-6 | pmid=6421127 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=6421127  }}</ref><ref name="pmid26247458">{{cite journal |vauthors=Callahan AB, Skondra D, Krzystolik M, Yonekawa Y, Eliott D |title=Wyburn-Mason Syndrome Associated With Cutaneous Reactive Angiomatosis and Central Retinal Vein Occlusion |journal=Ophthalmic Surg Lasers Imaging Retina |volume=46 |issue=7 |pages=760–2 |date=2015 |pmid=26247458 |doi=10.3928/23258160-20150730-12 |url=}}</ref><ref name="pmid24171831">{{cite journal |vauthors=Onder HI, Alisan S, Tunc M |title=Serous retinal detachment and cystoid macular edema in a patient with Wyburn-Mason syndrome |journal=Semin Ophthalmol |volume=30 |issue=2 |pages=154–6 |date=March 2015 |pmid=24171831 |doi=10.3109/08820538.2013.835832 |url=}}</ref><ref name="pmid84965542">{{cite journal| author=Khairallah M, Allagui M, Chachia N| title=[Congenital retinal arteriovenous fistula and central retinal vein occlusion]. | journal=J Fr Ophtalmol | year= 1993 | volume= 16 | issue= 2 | pages= 117-21 | pmid=8496554 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=8496554  }}</ref><ref name="pmid1565869">{{cite journal| author=Fong AC, Schatz H, McDonald HR, Burton TC, Maberley AL, Joffe L et al.| title=Central retinal vein occlusion in young adults (papillophlebitis). | journal=Retina | year= 1992 | volume= 12 | issue= 1 | pages= 3-11 | pmid=1565869 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=1565869  }}</ref><ref name="pmid6508098">{{cite journal| author=Zylbermann R, Rozenman Y, Silverstone BZ, Ronen S, Berson D| title=Central retinal vein occlusion in a case of arteriovenous communication of the retina. | journal=Ann Ophthalmol | year= 1984 | volume= 16 | issue= 9 | pages= 825-8 | pmid=6508098 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=6508098  }}</ref><ref name="pmid9858001">{{cite journal| author=Hardy TG, O'Day J| title=Retinal arteriovenous malformation with fluctuating vision and ischemic central retinal vein occlusion and its sequelae: 25-year follow-up of a case. | journal=J Neuroophthalmol | year= 1998 | volume= 18 | issue= 4 | pages= 233-6 | pmid=9858001 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=9858001  }}</ref><ref name="pmid25372446">{{cite journal| author=Iordanous Y, Sheidow TG| title=Late retinal neovascularization after central retinal vein occlusion: a case report and literature review. | journal=Retin Cases Brief Rep | year= 2014 | volume= 8 | issue= 3 | pages= 230-4 | pmid=25372446 | doi=10.1097/ICB.0000000000000051 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25372446  }}</ref><ref name="pmid18413521">{{cite journal| author=Klein R, Moss SE, Meuer SM, Klein BE| title=The 15-year cumulative incidence of retinal vein occlusion: the Beaver Dam Eye Study. | journal=Arch Ophthalmol | year= 2008 | volume= 126 | issue= 4 | pages= 513-8 | pmid=18413521 | doi=10.1001/archopht.126.4.513 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=18413521  }}</ref>
** Retinal detachment(serous type)
**[[Cutaneous]] reactive [[angiomatosis]]
**[[Central retinal vein occlusion]]
***[[Central retinal vein occlusion]] when in association with [[rubeosis iridis]] and secondary [[glaucoma]] gets complicated
**Acute or [[subacute]], recurrent, or catastrophic [[hemorrhagic]]
**[[Seizure|Seizures]]
**[[Hemiparesis]]
**[[Hydrocephalus]]
** Significantly decreased [[vision]]
 
==== Prognosis ====
* [[Maxillofacial]] or [[mandibular]] vessels involvement in Bonnet-Dechaume-Blanc syndrome patients may lead to excessive [[hemorrhages]] and associated with poor [[prognosis]].
 
== Differentiating Bonnet-Dechaume-Blanc syndrome from other Diseases ==
* Bonnet-Dechaume-Blanc syndrome must be differentiated from [[Sturge-Weber syndrome|sturge-weber syndrome]], congenital [[open-angle glaucoma]], and von hippel-lindau disease.<ref name="pmid26421964">{{cite journal| author=Kolomeyer AM, Eller AW, Martel JN| title=SPONTANEOUS RESOLUTION OF MACULAR EPIRETINAL MEMBRANES AFTER FLUORESCEIN POTENTIATED ARGON LASER TREATMENT OF VON HIPPEL-LINDAU ASSOCIATED RETINAL HEMANGIOMAS: CASE REPORT AND REVIEW OF LITERATURE. | journal=Retin Cases Brief Rep | year= 2016 | volume= 10 | issue= 2 | pages= 145-50 | pmid=26421964 | doi=10.1097/ICB.0000000000000206 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=26421964  }}</ref>


*
== Signs and symptoms ==
== Causes ==
*  
*  


== Epidemiology and Demographics ==
== Epidemiology and Demographics ==
[[File:AVMs of the whole retina.jpg|alt=AVMs of the whole retina|thumb|'''Fundus picture of left eye with extended AVMs of the whole retina'''. The small arrows mean a slight increase of vascular loops. Case courtesy D Schmidt Et Al <ref>{{Cite web|url=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3352052/|title=Twenty-seven years follow-up of a patient with congenital retinocephalofacial vascular malformation syndrome and additional congenital malformations (Bonnet-Dechaume-Blanc syndrome or Wyburn-Mason syndrome)|last=|first=|date=|website=|archive-url=|archive-date=|dead-url=|access-date=}}</ref>]]
[[File:Macular ischemia and extensive arteriovenous communications and dilated intertwined vessels.jpg|thumb|Macular ischemia and extensive arteriovenous communications and dilated intertwined vessels. Case courtesy by Dimitrios A Karagiannis<ref>{{Cite web|url=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3141854/|title=Spontaneous development of macular ischemia in a case of racemose hemangioma|last=|first=|date=|website=|archive-url=|archive-date=|dead-url=|access-date=}}</ref>]]


==== Incidence ====
==== Incidence ====
* Fewer than 100 cases of Bonnet-Dechaume-Blanc syndrome have been reported worldwide.<ref name="pmid29630270">{{cite journal |vauthors=So JM, Holman RE |title= |journal= |volume= |issue= |pages= |date= |pmid=29630270 |doi= |url=}}</ref>
* Fewer than 100 cases of Bonnet-Dechaume-Blanc syndrome have been reported worldwide.<ref name="pmid29630270">{{cite journal |vauthors=So JM, Holman RE |title= |journal= |volume= |issue= |pages= |date= |pmid=29630270 |doi= |url=}}</ref>


* The incidence of Bonnet-Dechaume-Blanc syndrome is unknown yet.
* The [[incidence]] of Bonnet-Dechaume-Blanc syndrome is unknown yet.


==== Prevalence ====
==== Prevalence ====
* The prevalence of Bonnet-Dechaume-Blanc syndrome is unknown yet.
* The [[prevalence]] of Bonnet-Dechaume-Blanc syndrome is unknown yet.


==== Age ====
==== Age ====
* Bonnet-Dechaume-Blanc syndrome is a congenital disorder.
* Bonnet-Dechaume-Blanc syndrome is a [[congenital disorder]].


==== Race ====
==== Race ====
* There is no racial predilection to Bonnet-Dechaume-Blanc syndrome.<ref name="pmid296302702">{{cite journal |vauthors=So JM, Holman RE |title= |journal= |volume= |issue= |pages= |date= |pmid=29630270 |doi= |url=}}</ref>
* There is no [[racial]] predilection to Bonnet-Dechaume-Blanc syndrome.<ref name="pmid296302702">{{cite journal |vauthors=So JM, Holman RE |title= |journal= |volume= |issue= |pages= |date= |pmid=29630270 |doi= |url=}}</ref>


==== Gender ====
==== Gender ====
* Bonnet-Dechaume-Blanc syndrome affects men and women equally.<ref name="pmid296302703">{{cite journal |vauthors=So JM, Holman RE |title= |journal= |volume= |issue= |pages= |date= |pmid=29630270 |doi= |url=}}</ref>
* Bonnet-Dechaume-Blanc syndrome affects [[men]] and [[Woman|women]] equally.<ref name="pmid296302703">{{cite journal |vauthors=So JM, Holman RE |title= |journal= |volume= |issue= |pages= |date= |pmid=29630270 |doi= |url=}}</ref>
 
== History and Symptoms ==
 
==== Common Symptoms ====
* Common [[symptoms]] of Bonnet-Dechaume-Blanc syndrome include:<ref name="HonBhattacharya2009">{{cite journal|last1=Hon|first1=Jennifer M.L.|last2=Bhattacharya|first2=Jo J.|last3=Counsell|first3=Carl E.|last4=Papanastassiou|first4=Vakis|last5=Ritchie|first5=Vaughn|last6=Roberts|first6=Richard C.|last7=Sellar|first7=Robin J.|last8=Warlow|first8=Charles P.|last9=Al-Shahi Salman|first9=Rustam|title=The Presentation and Clinical Course of Intracranial Developmental Venous Anomalies in Adults|journal=Stroke|volume=40|issue=6|year=2009|pages=1980–1985|issn=0039-2499|doi=10.1161/STROKEAHA.108.533034}}</ref><ref name="pmid1919693">{{cite journal| author=Garner TB, Del Curling O, Kelly DL, Laster DW| title=The natural history of intracranial venous angiomas. | journal=J Neurosurg | year= 1991 | volume= 75 | issue= 5 | pages= 715-22 | pmid=1919693 | doi=10.3171/jns.1991.75.5.0715 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=1919693  }}</ref><ref name="Lester2005">{{cite journal|last1=Lester|first1=J.|title=Wyburn-Mason Syndrome|journal=Journal of Neuroimaging|volume=15|issue=3|year=2005|pages=284–285|issn=1051-2284|doi=10.1111/j.1552-6569.2005.tb00324.x}}</ref><ref name="SchmidtPache2008">{{cite journal|last1=Schmidt|first1=Dieter|last2=Pache|first2=Mona|last3=Schumacher|first3=Martin|title=The Congenital Unilateral Retinocephalic Vascular Malformation Syndrome (Bonnet-Dechaume-Blanc Syndrome or Wyburn-Mason Syndrome): Review of the Literature|journal=Survey of Ophthalmology|volume=53|issue=3|year=2008|pages=227–249|issn=00396257|doi=10.1016/j.survophthal.2007.10.001}}</ref><ref>{{Cite web|url=https://www.ncbi.nlm.nih.gov/pubmed?term=7179074|title=Intracranial venous angiomas.|last=|first=|date=|website=|archive-url=|archive-date=|dead-url=|access-date=}}</ref>
** Mental status changes
** [[Headache|Headaches]]
** [[Seizure|Seizures]]
** [[Stroke]]
** [[Hemiparesis]]
** Visual-field abnormalities
** [[Papilledema]]
** [[Hydrocephalus]]
 
==== Less Common Symptoms  ====
* Less common [[symptoms]] of Bonnet-Dechaume-Blanc syndrome include:<ref name="HonBhattacharya20092">{{cite journal|last1=Hon|first1=Jennifer M.L.|last2=Bhattacharya|first2=Jo J.|last3=Counsell|first3=Carl E.|last4=Papanastassiou|first4=Vakis|last5=Ritchie|first5=Vaughn|last6=Roberts|first6=Richard C.|last7=Sellar|first7=Robin J.|last8=Warlow|first8=Charles P.|last9=Al-Shahi Salman|first9=Rustam|title=The Presentation and Clinical Course of Intracranial Developmental Venous Anomalies in Adults|journal=Stroke|volume=40|issue=6|year=2009|pages=1980–1985|issn=0039-2499|doi=10.1161/STROKEAHA.108.533034}}</ref><ref name="pmid64211272">{{cite journal| author=Rothfus WE, Albright AL, Casey KF, Latchaw RE, Roppolo HM| title=Cerebellar venous angioma: "benign" entity? | journal=AJNR Am J Neuroradiol | year= 1984 | volume= 5 | issue= 1 | pages= 61-6 | pmid=6421127 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=6421127  }}</ref><ref name="pmid19196932">{{cite journal| author=Garner TB, Del Curling O, Kelly DL, Laster DW| title=The natural history of intracranial venous angiomas. | journal=J Neurosurg | year= 1991 | volume= 75 | issue= 5 | pages= 715-22 | pmid=1919693 | doi=10.3171/jns.1991.75.5.0715 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=1919693  }}</ref>
**[[Hematuria]]
**[[Epistaxis]]
** Oral [[hemorrhages]]
 
== Physical Examination ==
 
==== Appearance of the Patient ====
* Patients with Bonnet-Dechaume-Blanc syndrome usually appear normal.
 
[[File:Retinal racemose angioma.gif|alt=Spontaneous development of macular ischemia in a case of racemose hemangioma|thumb|Retinal racemose angioma. Case courtesy by Dimitrios A Karagiannis<ref>{{Cite web|url=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3141854/|title=Spontaneous development of macular ischemia in a case of racemose hemangioma|last=|first=|date=|website=|archive-url=|archive-date=|dead-url=|access-date=}}</ref>]]
==== HEENT ====
* [[Ophthalmoscope|Ophthalmoscopic]] exam may be abnormal with findings of [[retinal]] and [[vitreous]] [[hemorrhages]], [[retinal detachment]], [[Vein|venous]] occlusive disease, [[optic disc]] [[edema]], or [[optic atrophy]].<ref name="BloomLaidlaw1993">{{cite journal|last1=Bloom|first1=P. A|last2=Laidlaw|first2=A.|last3=Easty|first3=D. L|title=Spontaneous development of retinal ischaemia and rubeosis in eyes with retinal racemose angioma|journal=British Journal of Ophthalmology|volume=77|issue=2|year=1993|pages=124–125|issn=0007-1161|doi=10.1136/bjo.77.2.124}}</ref><ref name="pmid16148629">{{cite journal |vauthors=Reck SD, Zacks DN, Eibschitz-Tsimhoni M |title=Retinal and intracranial arteriovenous malformations: Wyburn-Mason syndrome |journal=J Neuroophthalmol |volume=25 |issue=3 |pages=205–8 |date=September 2005 |pmid=16148629 |doi= |url=}}</ref><ref name="pmid20464122">{{cite journal |vauthors=Medina FM, Maia OO, Takahashi WY |title=Rhegmatogenous retinal detachment in Wyburn-Mason syndrome: case report |journal=Arq Bras Oftalmol |volume=73 |issue=1 |pages=88–91 |date=2010 |pmid=20464122 |doi= |url=}}</ref><ref name="pmid18501269">{{cite journal |vauthors=Schmidt D, Pache M, Schumacher M |title=The congenital unilateral retinocephalic vascular malformation syndrome (bonnet-dechaume-blanc syndrome or wyburn-mason syndrome): review of the literature |journal=Surv Ophthalmol |volume=53 |issue=3 |pages=227–49 |date=2008 |pmid=18501269 |doi=10.1016/j.survophthal.2007.10.001 |url=}}</ref><ref name="pmid15763202">{{cite journal |vauthors=Singh AD, Rundle PA, Rennie I |title=Retinal vascular tumors |journal=Ophthalmol Clin North Am |volume=18 |issue=1 |pages=167–76, x |date=March 2005 |pmid=15763202 |doi=10.1016/j.ohc.2004.07.005 |url=}}</ref><ref name="pmid2644928">{{cite journal| author=Mansour AM, Wells CG, Jampol LM, Kalina RE| title=Ocular complications of arteriovenous communications of the retina. | journal=Arch Ophthalmol | year= 1989 | volume= 107 | issue= 2 | pages= 232-6 | pmid=2644928 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=2644928  }}</ref><ref name="pmid26076059">{{cite journal| author=Barreira AK, Nakashima AF, Takahashi VK, Marques GA, Minelli T, Santo AM| title=RETINAL RACEMOSE HEMANGIOMA WITH FOCAL MACULAR INVOLVEMENT. | journal=Retin Cases Brief Rep | year= 2016 | volume= 10 | issue= 1 | pages= 52-4 | pmid=26076059 | doi=10.1097/ICB.0000000000000159 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=26076059  }}</ref>
* Racemose [[haemangioma]].<ref name="MeyerRodrigues2007">{{cite journal|last1=Meyer|first1=Carsten H.|last2=Rodrigues|first2=Eduardo B.|last3=Mennel|first3=Stefan|last4=Klingmüller|first4=Volker|last5=Kroll|first5=Peter|title=Functional and anatomical investigations in racemose haemangioma|journal=Acta Ophthalmologica Scandinavica|volume=85|issue=7|year=2007|pages=764–771|issn=13953907|doi=10.1111/j.1600-0420.2007.00911.x}}</ref><ref name="pmid">{{cite journal |vauthors=Augsburger JJ, Goldberg RE, Shields JA, Mulberger RD, Magargal LE |title=Changing appearance of retinal arteriovenous malformation |journal=Albrecht Von Graefes Arch Klin Exp Ophthalmol |volume=215 |issue=1 |pages=65–70 |date=1980 |pmid= |doi= |url=}}</ref><ref name="pmid271121692">{{cite journal |vauthors=Zeng Y, Fan YC, Liu Y, Wan L |title=Cerebral Arteriovenous Malformation in Wyburn-Mason Syndrome |journal=J Pediatr Ophthalmol Strabismus |volume=53 Online |issue= |pages=e15–7 |date=April 2016 |pmid=27112169 |doi=10.3928/01913913-20160406-01 |url=}}</ref><ref name="pmid304512082">{{cite journal |vauthors=Pangtey BPS, Kohli P, Ramasamy K |title=Wyburn-Mason syndrome presenting with bilateral retinal racemose hemangioma with unilateral serous retinal detachment |journal=Indian J Ophthalmol |volume=66 |issue=12 |pages=1869–1871 |date=December 2018 |pmid=30451208 |pmc=6256888 |doi=10.4103/ijo.IJO_455_18 |url=}}</ref><ref name="pmid17711544">{{cite journal |vauthors=Meyer CH, Rodrigues EB, Mennel S, Klingmüller V, Kroll P |title=Functional and anatomical investigations in racemose haemangioma |journal=Acta Ophthalmol Scand |volume=85 |issue=7 |pages=764–71 |date=November 2007 |pmid=17711544 |doi=10.1111/j.1600-0420.2007.00911.x |url=}}</ref><ref name="PapageorgiouGhazi-Nouri2006">{{cite journal|last1=Papageorgiou|first1=Konstantinos I|last2=Ghazi-Nouri|first2=Seyed MS|last3=Andreou|first3=Petros S|title=Vitreous and subretinal haemorrhage: an unusual complication of retinal racemose haemangioma|journal=Clinical and Experimental Ophthalmology|volume=34|issue=2|year=2006|pages=176–177|issn=1442-6404|doi=10.1111/j.1442-9071.2006.01178.x}}</ref><ref name="pmid23053770">{{cite journal| author=Eskandari MR, Rahimi-Ardabili B, Javadzade A| title=Racemose hemangioma type 2: the first case report from the Middle East. | journal=Int Ophthalmol | year= 2013 | volume= 33 | issue= 1 | pages= 95-7 | pmid=23053770 | doi=10.1007/s10792-012-9636-z | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23053770  }}</ref><ref name="pmid25390417">{{cite journal| author=Elizalde J, Vasquez L| title=Spontaneous regression in a case of racemose haemangioma archer's type 2. | journal=Retin Cases Brief Rep | year= 2011 | volume= 5 | issue= 4 | pages= 294-6 | pmid=25390417 | doi=10.1097/ICB.0b013e3181f66a97 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25390417  }}</ref>
* [[Macular]] [[ischemia]].<ref name="KaragiannisPanagiotidis2011">{{cite journal|last1=Karagiannis|first1=Dimitrios|last2=Panagiotidis|first2=Dimitrios|last3=Tsoubris|first3=Ioannis|last4=Theodossiadis|first4=Panagiotis|title=Spontaneous development of macular ischemia in a case of racemose hemangioma|journal=Clinical Ophthalmology|year=2011|pages=931|issn=1177-5483|doi=10.2147/OPTH.S21925}}</ref>
* [[Proptosis]] which can be accompanied by [[bruit]]<ref name="pmid2598528">{{cite journal |vauthors=Fujita H, Nakano K, Kumon Y, Inoue H, Sakaki S |title=[A case of Wyburn-Mason syndrome] |language=Japanese |journal=Rinsho Shinkeigaku |volume=29 |issue=8 |pages=1039–44 |date=August 1989 |pmid=2598528 |doi= |url=}}</ref>
* [[Blepharoptosis]]: Drooping of the upper [[eyelid]]
* [[Neck stiffness]] ([[nuchal rigidity]])
 
[[File:Digital subtraction angiography (DSA).png|alt=Digital subtraction angiography (DSA)|thumb|'''Digital subtraction angiography (DSA) of the left internal carotid artery: arterial phase (a, b) demonstrating the nidus of the arteriovenous malformation located around the chiasm (arrows) and behind the globe (arrowhead)'''. In c venous drainage of the arteriovenous malformation and chorioretinal blush (open arrow). Case courtesy by D Schmidt Et Al<ref>{{Cite web|url=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3352052/|title=Twenty-seven years follow-up of a patient with congenital retinocephalofacial vascular malformation syndrome and additional congenital malformations (Bonnet-Dechaume-Blanc syndrome or Wyburn-Mason syndrome)|last=|first=|date=|website=pubmed|archive-url=|archive-date=|dead-url=|access-date=}}</ref>]]
<br />
==== Lungs ====
Based on the locations of [[arteriovenous malformations]]([[Arteriovenous malformation|AVM]]), Bonnet-Dechaume-Blanc syndrome patients may present with:
* [[Hematuria]]
* [[Hemoptysis]]
* [[Epistaxis]]
 
==== Neuromuscular ====
* [[Seizure|Seizures]]
* [[Hemiparesis]]


== Diagnosis ==
== Diagnosis ==
==== Diagnostic Study of Choice ====
[[File:Fundus photographs, fluorescein angiographic (FA) image, and enhanced depth imaging optical coherence tomographic (EDI- OCT).gif|alt=Fundus photographs , fluorescein angiographic (FA) image, and enhanced depth imaging optical coherence tomographic (EDI- OCT)|thumb|'''Fundus photographs''' ''',''' '''fluorescein angiographic''' '''(FA)''' '''image, and enhanced depth imaging optical coherence tomographic''' '''(EDI-''' '''OCT) images. A''':Markedly dilated tortuous vascular loops. The optic disc is obscured by very large vascular loops. Numerous anastomosing vessels make it difficult to separate the arterial and venous components. '''B''': Fluorescein angiography in early phase shows fluorescein throughout the vascular loops without an intervening capillary bed and leakage from the loops, indicating a direct arteriovenous communication. Red arrow indicates the fovea (center of the foveal avascular zone), and green arrows indicate the direction of the OCT scans in ‘'''E'''’ and ‘'''F'''’. '''C''':The vascular loops in some areas are less dilated and tortuous than in the left eye (see ‘A’). '''D'''-'''F''': EDI-OCT images in the healthy right eye '''(D)''' and the affected left eye '''(E, F)'''. Choroidal thickness of the left eye is thicker than that of the fellow eye. ‘'''E'''’ indicates a horizontal scan, and ‘'''D'''’ and ‘'''F'''’ indicate vertical scans through the fovea.'''(E, F)''' demonstrate retinal edema with cystic changes and oval-shaped lesions corresponding to cross sections of abnormal retinal vessels. White arrow indicates cystoid macular edema '''(F)'''. Case courtesy by Akiko Iwata et Al.<ref>{{Cite web|url=https://www.ncbi.nlm.nih.gov/pmc/arti|title=Binarization of enhanced depth imaging optical coherence tomographic images of an eye with Wyburn-Mason syndrome: a case report|last=|first=|date=|website=|archive-url=|archive-date=|dead-url=|access-date=}}</ref>]]
* [[Ophthalmoscopy]] is the gold standard test for the [[diagnosis]] of Bonnet-Dechaume-Blanc syndrome.<ref name="pmid27112169">{{cite journal |vauthors=Zeng Y, Fan YC, Liu Y, Wan L |title=Cerebral Arteriovenous Malformation in Wyburn-Mason Syndrome |journal=J Pediatr Ophthalmol Strabismus |volume=53 Online |issue= |pages=e15–7 |date=April 2016 |pmid=27112169 |doi=10.3928/01913913-20160406-01 |url=}}</ref>
== Other Diagnostic Studies ==
* Other [[diagnostic]] studies for Bonnet-Dechaume-Blanc syndrome include:<ref name="ArcherDeutman1973">{{cite journal|last1=Archer|first1=Desmond B.|last2=Deutman|first2=August|last3=Ernest|first3=J. Terry|last4=Krill|first4=Alex E.|title=Arteriovenous Communications of the Retina|journal=American Journal of Ophthalmology|volume=75|issue=2|year=1973|pages=224–241|issn=00029394|doi=10.1016/0002-9394(73)91018-0}}</ref><ref name="pmid241718312">{{cite journal |vauthors=Onder HI, Alisan S, Tunc M |title=Serous retinal detachment and cystoid macular edema in a patient with Wyburn-Mason syndrome |journal=Semin Ophthalmol |volume=30 |issue=2 |pages=154–6 |date=March 2015 |pmid=24171831 |doi=10.3109/08820538.2013.835832 |url=}}</ref><ref name="IwataMitamura2015">{{cite journal|last1=Iwata|first1=Akiko|last2=Mitamura|first2=Yoshinori|last3=Niki|first3=Masanori|last4=Semba|first4=Kentaro|last5=Egawa|first5=Mariko|last6=Katome|first6=Takashi|last7=Sonoda|first7=Shozo|last8=Sakamoto|first8=Taiji|title=Binarization of enhanced depth imaging optical coherence tomographic images of an eye with Wyburn-Mason syndrome: a case report|journal=BMC Ophthalmology|volume=15|issue=1|year=2015|issn=1471-2415|doi=10.1186/s12886-015-0014-2}}</ref>
*[[Fluorescein angiography]]: Helps in identifying the small [[Lesion|lesions]]<ref name="KittelbergerDavis1989">{{cite journal|last1=Kittelberger|first1=Reinhold|last2=Davis|first2=Paul F.|last3=Stehbens|first3=William E.|title=An improved immunofluorescence techniquefor the histological examination of blood vessel tissue|journal=Acta Histochemica|volume=86|issue=2|year=1989|pages=137–IN2|issn=00651281|doi=10.1016/S0065-1281(89)80082-0}}</ref>
*[[Optical coherence tomography]]: Helps in identifying the changes in [[nerve]] [[fiber]] layer, [[macula]], and [[retina]]
*[[Catheter]] [[angiography]]: [[Catheter]] [[angiography]]: Helps in identifying size, location, feeding [[arteries]] and draining [[Vein|veins]] in [[arteriovenous malformations]]([[Arteriovenous malformation|AVM]])
*[[Digital subtraction angiography]] ([[Digital subtraction angiography|DSA]]): Helps in identifying nidus of the [[arteriovenous malformations]]([[Arteriovenous malformation|AVM]]) located around the [[optic chiasm]] and behind the globe.<ref name="SchmidtAgostini20102">{{cite journal|last1=Schmidt|first1=D|last2=Agostini|first2=H|last3=Schumacher|first3=M|title=Twenty-seven years follow-up of a patient with congenital retinocephalofacial vascular malformation syndrome and additional congenital malformations (Bonnet-dechaume-blanc syndrome or wyburn-mason syndrome)|journal=European Journal of Medical Research|volume=15|issue=2|year=2010|pages=88|issn=2047-783X|doi=10.1186/2047-783X-15-2-88}}</ref>
== CT scan ==
* Head [[Computed tomography|CT scan]] may be helpful in the [[diagnosis]] of Bonnet-Dechaume-Blanc syndrome. Findings on [[Computed tomography|CT scan]] suggestive of Bonnet-Dechaume-Blanc syndrome include:
** Intracranial [[Arteriovenous malformation|arteriovenous malformations]]
== MRI ==
*[[File:MRI showing a temporal arachnoidal cyst.jpg|alt=Temporal arachnoidal cyst|thumb|'''MRI showing a temporal arachnoidal cysttemporal arachnoidal cyst (short arrow in a, b), the enlarged retrobulbar vessels (long arrow in d), and retinal AVM (arrow head in e)'''. MR-angiography in coronal view showing the chiasmal and hypothalamic network of the arterio-venous nidus (long arrow in c). Case courtesy by D Schmidt Et Al <ref>{{Cite web|url=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3352052/|title=Twenty-seven years follow-up of a patient with congenital retinocephalofacial vascular malformation syndrome and additional congenital malformations (Bonnet-Dechaume-Blanc syndrome or Wyburn-Mason syndrome)|last=|first=|date=|website=|archive-url=|archive-date=|dead-url=|access-date=}}</ref>]]Head [[Magnetic resonance imaging|MRI]] scan may be helpful in the [[diagnosis]] of Bonnet-Dechaume-Blanc syndrome. Findings on [[Magnetic resonance imaging|MRI scan]] suggestive of Bonnet-Dechaume-Blanc syndrome include:<ref name="SchmidtAgostini2010">{{cite journal|last1=Schmidt|first1=D|last2=Agostini|first2=H|last3=Schumacher|first3=M|title=Twenty-seven years follow-up of a patient with congenital retinocephalofacial vascular malformation syndrome and additional congenital malformations (Bonnet-dechaume-blanc syndrome or wyburn-mason syndrome)|journal=European Journal of Medical Research|volume=15|issue=2|year=2010|pages=88|issn=2047-783X|doi=10.1186/2047-783X-15-2-88}}</ref><ref name="pmid7179074">{{cite journal| author=Numaguchi Y, Kitamura K, Fukui M, Ikeda J, Hasuo K, Kishikawa T et al.| title=Intracranial venous angiomas. | journal=Surg Neurol | year= 1982 | volume= 18 | issue= 3 | pages= 193-202 | pmid=7179074 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=7179074  }}</ref><ref name="pmid230537702">{{cite journal| author=Eskandari MR, Rahimi-Ardabili B, Javadzade A| title=Racemose hemangioma type 2: the first case report from the Middle East. | journal=Int Ophthalmol | year= 2013 | volume= 33 | issue= 1 | pages= 95-7 | pmid=23053770 | doi=10.1007/s10792-012-9636-z | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23053770  }}</ref>
** Intracranial [[Arteriovenous malformation|arteriovenous malformations]]
** [[Midbrain]] involvement
** [[Optic nerve]], [[Chiasma|chiasm]] and [[thalamus]] involvement
** Arachnoidal cyst
** Enlarged retrobulbar vessels
** Retinal [[arteriovenous malformations]]([[Arteriovenous malformation|AVM]])
*
== Treatment ==
== Treatment ==


== References ==
==== Medical Therapy ====
{{reflist}}
* The optimal therapy for Bonnet-Dechaume-Blanc syndrome depends on the location of [[arteriovenous malformation]] at the time of [[diagnosis]].<ref name="pmid260760592">{{cite journal| author=Barreira AK, Nakashima AF, Takahashi VK, Marques GA, Minelli T, Santo AM| title=RETINAL RACEMOSE HEMANGIOMA WITH FOCAL MACULAR INVOLVEMENT. | journal=Retin Cases Brief Rep | year= 2016 | volume= 10 | issue= 1 | pages= 52-4 | pmid=26076059 | doi=10.1097/ICB.0000000000000159 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=26076059  }}</ref>
* The majority of patients with Bonnet-Dechaume-Blanc syndrome shows no symptoms with unruptured [[Arteriovenous malformation|arteriovenous malformations]] and these patients are under observation.<ref name="pmid17235577">{{cite journal |vauthors=Dayani PN, Sadun AA |title=A case report of Wyburn-Mason syndrome and review of the literature |journal=Neuroradiology |volume=49 |issue=5 |pages=445–56 |date=May 2007 |pmid=17235577 |doi=10.1007/s00234-006-0205-x |url=}}</ref>
* [[Bevacizumab]]( [[Intravitreal administration|intravitreal]] injection) helps in decreasing the [[pressure]] and fluid build up in the eye in case of [[retinal]] racemose [[hemangioma]] and helps in improving the [[vision]].<ref name="pmid30451208">{{cite journal |vauthors=Pangtey BPS, Kohli P, Ramasamy K |title=Wyburn-Mason syndrome presenting with bilateral retinal racemose hemangioma with unilateral serous retinal detachment |journal=Indian J Ophthalmol |volume=66 |issue=12 |pages=1869–1871 |date=December 2018 |pmid=30451208 |pmc=6256888 |doi=10.4103/ijo.IJO_455_18 |url=}}</ref><ref name="pmid25284102">{{cite journal |vauthors=Slim E, Antoun J, Kourie HR, Schakkal A, Cherfan G |title=Intravitreal bevacizumab for retinal capillary hemangioblastoma: A case series and literature review |journal=Can. J. Ophthalmol. |volume=49 |issue=5 |pages=450–7 |date=October 2014 |pmid=25284102 |doi=10.1016/j.jcjo.2014.07.007 |url=}}</ref><ref name="pmid30900598">{{cite journal |vauthors=Naik AU, Bhende M, Selvakumar A, Khetan V |title=Management of retinal artery macroaneurysm exudation in Wyburn-Mason syndrome with intravitreal ranibizumab |journal=Indian J Ophthalmol |volume=67 |issue=4 |pages=556 |date=April 2019 |pmid=30900598 |pmc=6446644 |doi=10.4103/ijo.IJO_1497_18 |url=}}</ref>
*[[Intravitreal]] [[ranibizumab]] helps in treating the patients who are with [[retinal artery]] macroaneurysm and exudation.<ref name="ChatziralliManiatea2016">{{cite journal|last1=Chatziralli|first1=Irini|last2=Maniatea|first2=Aggeliki|last3=Koubouni|first3=Kyriakoula|last4=Parikakis|first4=Efstratios|last5=Mitropoulos|first5=Panagiotis|title=Intravitreal Ranibizumab for Retinal Arterial Macroaneurysm: Long-Term Results of a Prospective Study|journal=European Journal of Ophthalmology|volume=27|issue=2|year=2016|pages=215–219|issn=1120-6721|doi=10.5301/ejo.5000863}}</ref><ref name="BormannHeichel2017">{{cite journal|last1=Bormann|first1=Caroline|last2=Heichel|first2=Jens|last3=Hammer|first3=Ute|last4=Habermann|first4=Anke|last5=Hammer|first5=Thomas|title=Intravitreal Anti-Vascular Endothelial Growth Factor for Macular Edema due to Complex Retinal Arterial Macroaneurysms|journal=Case Reports in Ophthalmology|volume=8|issue=1|year=2017|pages=141–147|issn=1663-2699|doi=10.1159/000458517}}</ref><ref name="LavinMarsh1987">{{cite journal|last1=Lavin|first1=M J|last2=Marsh|first2=R J|last3=Peart|first3=S|last4=Rehman|first4=A|title=Retinal arterial macroaneurysms: a retrospective study of 40 patients.|journal=British Journal of Ophthalmology|volume=71|issue=11|year=1987|pages=817–825|issn=0007-1161|doi=10.1136/bjo.71.11.817}}</ref><ref name="Abdel-KhalekRichardson1986">{{cite journal|last1=Abdel-Khalek|first1=M. N.|last2=Richardson|first2=J.|title=Retinal macroaneurysm: natural history and guidelines for treatment.|journal=British Journal of Ophthalmology|volume=70|issue=1|year=1986|pages=2–11|issn=0007-1161|doi=10.1136/bjo.70.1.2}}</ref>
 
==== Interventions ====
* [[Intervention (counseling)|Intervention]] options in Bonnet-Dechaume-Blanc syndrome include<ref name="pmid8496554">{{cite journal| author=Khairallah M, Allagui M, Chachia N| title=[Congenital retinal arteriovenous fistula and central retinal vein occlusion]. | journal=J Fr Ophtalmol | year= 1993 | volume= 16 | issue= 2 | pages= 117-21 | pmid=8496554 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=8496554  }}</ref><ref name="pmid25709396">{{cite journal| author=Singer MA, Tan CS, Surapaneni KR, Sadda SR| title=Targeted photocoagulation of peripheral ischemia to treat rebound edema. | journal=Clin Ophthalmol | year= 2015 | volume= 9 | issue=  | pages= 337-41 | pmid=25709396 | doi=10.2147/OPTH.S75842 | pmc=4335623 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25709396  }}</ref>
**[[Radiation therapy]]
**[[Laser]] photocoagulation for patients who are having peripheral [[ischemia]]
 
== Surgery ==
*
 
*[[Surgery]] is not the first-line treatment option for patients with Bonnet-Dechaume-Blanc syndrome.
* In patients with Bonnet-Dechaume-Blanc syndrome the options are as follows
*[[Endovascular]] [[embolization]]
*[[Surgical resection]], or a combination are the choices for the patients to manage [[Arteriovenous malformation|AVMs]].
 
==References==
{{Reflist|2}}


{{WH}}
{{WS}}
{{DEFAULTSORT:Bonnet-Dechaume-Blanc syndrome}}
{{DEFAULTSORT:Bonnet-Dechaume-Blanc syndrome}}
[[Category:Neurology]]
[[Category:Neurology]]
[[Category:Neurological disorders]]
[[Category:Neurological disorders]]

Latest revision as of 18:59, 30 June 2019


Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] ; Associate Editor(s)-in-Chief: Vamsikrishna Gunnam M.B.B.S [2]

Synonyms and keywords: Wyburn mason's syndrome; Retinoencephalofacial angiomatosis

Overview

Bonnet-Dechaume-Blanc syndrome or Wyburn mason's syndrome or Retinoencephalofacial angiomatosis is a rare arteriovenous malformation (AVMs) condition. The special name for wyburn mason's syndrome is called congenital retinocephalofacial vascular malformation syndrome" ("CRC syndrome"). In The United States of America in order to categorise a condition as a rare disease it should affect fewer than 200,000 people. Rare diseases also called as orphan diseases. Orphan Drug Act was passed on 1983 by congress for the rare diseases. Today an average of 25-30 million americans have been reported with rare diseases. The number of people with individual rare disease may be less but overall the number of people with rare diseases are large in number.

Historical Perspective

retinal arteriovenous malformation
Fundus appearance of a typical retinal arteriovenous malformation(bag of worms).Picture courtesy by Singh AD Et Al [5]

Classification

  • Arteriovenous malformations(AVM) may be classified according to Archer et al. into 3 groups:[6]
Type 1 Small arteriole-venule anastomoses Hard to detect clinically
Type 2 Direct artery-vein communication devoid capillary network Edema and hemorrhage may occur
Type 3 Dilated, tortuous retinal vessels Severe visual impairment

Pathophysiology

Microscopic Pathology

Causes

  • The cause of Bonnet-Dechaume-Blanc syndrome has not been identified yet.

Genetic Causes

  • Bonnet-Dechaume-Blanc syndrome may be is caused by a mutation in the genes.

Risk Factors

  • There are no established risk factors for Bonnet-Dechaume-Blanc syndrome.

Natural History, Complications, and Prognosis

Natural History

  • The symptoms of Bonnet-Dechaume-Blanc syndrome usually develop in the first decade of life, and start with symptoms such as visual-field abnormalities.

Complications

Prognosis

Differentiating Bonnet-Dechaume-Blanc syndrome from other Diseases

Epidemiology and Demographics

AVMs of the whole retina
Fundus picture of left eye with extended AVMs of the whole retina. The small arrows mean a slight increase of vascular loops. Case courtesy D Schmidt Et Al [18]
Macular ischemia and extensive arteriovenous communications and dilated intertwined vessels. Case courtesy by Dimitrios A Karagiannis[19]

Incidence

  • Fewer than 100 cases of Bonnet-Dechaume-Blanc syndrome have been reported worldwide.[20]
  • The incidence of Bonnet-Dechaume-Blanc syndrome is unknown yet.

Prevalence

  • The prevalence of Bonnet-Dechaume-Blanc syndrome is unknown yet.

Age

Race

  • There is no racial predilection to Bonnet-Dechaume-Blanc syndrome.[21]

Gender

  • Bonnet-Dechaume-Blanc syndrome affects men and women equally.[22]

History and Symptoms

Common Symptoms

Less Common Symptoms

Physical Examination

Appearance of the Patient

  • Patients with Bonnet-Dechaume-Blanc syndrome usually appear normal.
Spontaneous development of macular ischemia in a case of racemose hemangioma
Retinal racemose angioma. Case courtesy by Dimitrios A Karagiannis[31]

HEENT

Digital subtraction angiography (DSA)
Digital subtraction angiography (DSA) of the left internal carotid artery: arterial phase (a, b) demonstrating the nidus of the arteriovenous malformation located around the chiasm (arrows) and behind the globe (arrowhead). In c venous drainage of the arteriovenous malformation and chorioretinal blush (open arrow). Case courtesy by D Schmidt Et Al[49]


Lungs

Based on the locations of arteriovenous malformations(AVM), Bonnet-Dechaume-Blanc syndrome patients may present with:

Neuromuscular

Diagnosis

Diagnostic Study of Choice

Fundus photographs , fluorescein angiographic (FA) image, and enhanced depth imaging optical coherence tomographic (EDI- OCT)
Fundus photographs , fluorescein angiographic (FA) image, and enhanced depth imaging optical coherence tomographic (EDI- OCT) images. A:Markedly dilated tortuous vascular loops. The optic disc is obscured by very large vascular loops. Numerous anastomosing vessels make it difficult to separate the arterial and venous components. B: Fluorescein angiography in early phase shows fluorescein throughout the vascular loops without an intervening capillary bed and leakage from the loops, indicating a direct arteriovenous communication. Red arrow indicates the fovea (center of the foveal avascular zone), and green arrows indicate the direction of the OCT scans in ‘E’ and ‘F’. C:The vascular loops in some areas are less dilated and tortuous than in the left eye (see ‘A’). D-F: EDI-OCT images in the healthy right eye (D) and the affected left eye (E, F). Choroidal thickness of the left eye is thicker than that of the fellow eye. ‘E’ indicates a horizontal scan, and ‘D’ and ‘F’ indicate vertical scans through the fovea.(E, F) demonstrate retinal edema with cystic changes and oval-shaped lesions corresponding to cross sections of abnormal retinal vessels. White arrow indicates cystoid macular edema (F). Case courtesy by Akiko Iwata et Al.[50]

Other Diagnostic Studies

CT scan

MRI

  • Temporal arachnoidal cyst
    MRI showing a temporal arachnoidal cysttemporal arachnoidal cyst (short arrow in a, b), the enlarged retrobulbar vessels (long arrow in d), and retinal AVM (arrow head in e). MR-angiography in coronal view showing the chiasmal and hypothalamic network of the arterio-venous nidus (long arrow in c). Case courtesy by D Schmidt Et Al [57]
    Head MRI scan may be helpful in the diagnosis of Bonnet-Dechaume-Blanc syndrome. Findings on MRI scan suggestive of Bonnet-Dechaume-Blanc syndrome include:[58][59][60]

Treatment

Medical Therapy

Interventions

Surgery

  • Surgery is not the first-line treatment option for patients with Bonnet-Dechaume-Blanc syndrome.
  • In patients with Bonnet-Dechaume-Blanc syndrome the options are as follows
  • Endovascular embolization
  • Surgical resection, or a combination are the choices for the patients to manage AVMs.

References

  1. ↑ Magnus, Hugo (1874). "Aneurysma arterioso-venosum retinale". Archiv für Pathologische Anatomie und Physiologie und für Klinische Medicin. 60 (1): 38–45. doi:10.1007/BF01938766. ISSN 0945-6317.
  2. ↑ Yates, A. Gurney; Paine, C. G. (1930). "A CASE OF ARTERIOVENOUS ANEURYSM WITHIN THE BRAIN". Brain. 53 (1): 38–46. doi:10.1093/brain/53.1.38. ISSN 0006-8950.
  3. ↑ Bhattacharya, J.J.; Luo, C.B.; Suh, D.C.; Alvarez, H.; Rodesch, G.; Lasjaunias, P. (2016). "Wyburn-Mason or Bonnet-Dechaume-Blanc as Cerebrofacial Arteriovenous Metameric Syndromes (CAMS)". Interventional Neuroradiology. 7 (1): 5–17. doi:10.1177/159101990100700101. ISSN 1591-0199.
  4. ↑ Wyburn-Mason, R. (1943). "ARTERIOVENOUS ANEURYSM OF MID-BRAIN AND RETINA, FACIAL NÆVI AND MENTAL CHANGES". Brain. 66 (3): 163–203. doi:10.1093/brain/66.3.163. ISSN 0006-8950.
  5. ↑ "Vascular Tumors of the Retina and Choroid: Diagnosis and Treatment".
  6. ↑ Dens, Helena; Casteels, Ingele (2018). "Exudative Type 3 Retinal Arteriovenous Malformation in a Pediatric Patient". Case Reports in Ophthalmology. 9 (3): 504–509. doi:10.1159/000495656. ISSN 1663-2699.
  7. ↑ Pangtey B, Kohli P, Ramasamy K (December 2018). "Wyburn-Mason syndrome presenting with bilateral retinal racemose hemangioma with unilateral serous retinal detachment". Indian J Ophthalmol. 66 (12): 1869–1871. doi:10.4103/ijo.IJO_455_18. PMC 6256888. PMID 30451208. Vancouver style error: initials (help)
  8. ↑ Rothfus WE, Albright AL, Casey KF, Latchaw RE, Roppolo HM (1984). "Cerebellar venous angioma: "benign" entity?". AJNR Am J Neuroradiol. 5 (1): 61–6. PMID 6421127.
  9. ↑ Callahan AB, Skondra D, Krzystolik M, Yonekawa Y, Eliott D (2015). "Wyburn-Mason Syndrome Associated With Cutaneous Reactive Angiomatosis and Central Retinal Vein Occlusion". Ophthalmic Surg Lasers Imaging Retina. 46 (7): 760–2. doi:10.3928/23258160-20150730-12. PMID 26247458.
  10. ↑ Onder HI, Alisan S, Tunc M (March 2015). "Serous retinal detachment and cystoid macular edema in a patient with Wyburn-Mason syndrome". Semin Ophthalmol. 30 (2): 154–6. doi:10.3109/08820538.2013.835832. PMID 24171831.
  11. ↑ Khairallah M, Allagui M, Chachia N (1993). "[Congenital retinal arteriovenous fistula and central retinal vein occlusion]". J Fr Ophtalmol. 16 (2): 117–21. PMID 8496554.
  12. ↑ Fong AC, Schatz H, McDonald HR, Burton TC, Maberley AL, Joffe L; et al. (1992). "Central retinal vein occlusion in young adults (papillophlebitis)". Retina. 12 (1): 3–11. PMID 1565869.
  13. ↑ Zylbermann R, Rozenman Y, Silverstone BZ, Ronen S, Berson D (1984). "Central retinal vein occlusion in a case of arteriovenous communication of the retina". Ann Ophthalmol. 16 (9): 825–8. PMID 6508098.
  14. ↑ Hardy TG, O'Day J (1998). "Retinal arteriovenous malformation with fluctuating vision and ischemic central retinal vein occlusion and its sequelae: 25-year follow-up of a case". J Neuroophthalmol. 18 (4): 233–6. PMID 9858001.
  15. ↑ Iordanous Y, Sheidow TG (2014). "Late retinal neovascularization after central retinal vein occlusion: a case report and literature review". Retin Cases Brief Rep. 8 (3): 230–4. doi:10.1097/ICB.0000000000000051. PMID 25372446.
  16. ↑ Klein R, Moss SE, Meuer SM, Klein BE (2008). "The 15-year cumulative incidence of retinal vein occlusion: the Beaver Dam Eye Study". Arch Ophthalmol. 126 (4): 513–8. doi:10.1001/archopht.126.4.513. PMID 18413521.
  17. ↑ Kolomeyer AM, Eller AW, Martel JN (2016). "SPONTANEOUS RESOLUTION OF MACULAR EPIRETINAL MEMBRANES AFTER FLUORESCEIN POTENTIATED ARGON LASER TREATMENT OF VON HIPPEL-LINDAU ASSOCIATED RETINAL HEMANGIOMAS: CASE REPORT AND REVIEW OF LITERATURE". Retin Cases Brief Rep. 10 (2): 145–50. doi:10.1097/ICB.0000000000000206. PMID 26421964.
  18. ↑ "Twenty-seven years follow-up of a patient with congenital retinocephalofacial vascular malformation syndrome and additional congenital malformations (Bonnet-Dechaume-Blanc syndrome or Wyburn-Mason syndrome)".
  19. ↑ "Spontaneous development of macular ischemia in a case of racemose hemangioma".
  20. ↑ So JM, Holman RE. PMID 29630270. Missing or empty |title= (help)
  21. ↑ So JM, Holman RE. PMID 29630270. Missing or empty |title= (help)
  22. ↑ So JM, Holman RE. PMID 29630270. Missing or empty |title= (help)
  23. ↑ Hon, Jennifer M.L.; Bhattacharya, Jo J.; Counsell, Carl E.; Papanastassiou, Vakis; Ritchie, Vaughn; Roberts, Richard C.; Sellar, Robin J.; Warlow, Charles P.; Al-Shahi Salman, Rustam (2009). "The Presentation and Clinical Course of Intracranial Developmental Venous Anomalies in Adults". Stroke. 40 (6): 1980–1985. doi:10.1161/STROKEAHA.108.533034. ISSN 0039-2499.
  24. ↑ Garner TB, Del Curling O, Kelly DL, Laster DW (1991). "The natural history of intracranial venous angiomas". J Neurosurg. 75 (5): 715–22. doi:10.3171/jns.1991.75.5.0715. PMID 1919693.
  25. ↑ Lester, J. (2005). "Wyburn-Mason Syndrome". Journal of Neuroimaging. 15 (3): 284–285. doi:10.1111/j.1552-6569.2005.tb00324.x. ISSN 1051-2284.
  26. ↑ Schmidt, Dieter; Pache, Mona; Schumacher, Martin (2008). "The Congenital Unilateral Retinocephalic Vascular Malformation Syndrome (Bonnet-Dechaume-Blanc Syndrome or Wyburn-Mason Syndrome): Review of the Literature". Survey of Ophthalmology. 53 (3): 227–249. doi:10.1016/j.survophthal.2007.10.001. ISSN 0039-6257.
  27. ↑ "Intracranial venous angiomas".
  28. ↑ Hon, Jennifer M.L.; Bhattacharya, Jo J.; Counsell, Carl E.; Papanastassiou, Vakis; Ritchie, Vaughn; Roberts, Richard C.; Sellar, Robin J.; Warlow, Charles P.; Al-Shahi Salman, Rustam (2009). "The Presentation and Clinical Course of Intracranial Developmental Venous Anomalies in Adults". Stroke. 40 (6): 1980–1985. doi:10.1161/STROKEAHA.108.533034. ISSN 0039-2499.
  29. ↑ Rothfus WE, Albright AL, Casey KF, Latchaw RE, Roppolo HM (1984). "Cerebellar venous angioma: "benign" entity?". AJNR Am J Neuroradiol. 5 (1): 61–6. PMID 6421127.
  30. ↑ Garner TB, Del Curling O, Kelly DL, Laster DW (1991). "The natural history of intracranial venous angiomas". J Neurosurg. 75 (5): 715–22. doi:10.3171/jns.1991.75.5.0715. PMID 1919693.
  31. ↑ "Spontaneous development of macular ischemia in a case of racemose hemangioma".
  32. ↑ Bloom, P. A; Laidlaw, A.; Easty, D. L (1993). "Spontaneous development of retinal ischaemia and rubeosis in eyes with retinal racemose angioma". British Journal of Ophthalmology. 77 (2): 124–125. doi:10.1136/bjo.77.2.124. ISSN 0007-1161.
  33. ↑ Reck SD, Zacks DN, Eibschitz-Tsimhoni M (September 2005). "Retinal and intracranial arteriovenous malformations: Wyburn-Mason syndrome". J Neuroophthalmol. 25 (3): 205–8. PMID 16148629.
  34. ↑ Medina FM, Maia OO, Takahashi WY (2010). "Rhegmatogenous retinal detachment in Wyburn-Mason syndrome: case report". Arq Bras Oftalmol. 73 (1): 88–91. PMID 20464122.
  35. ↑ Schmidt D, Pache M, Schumacher M (2008). "The congenital unilateral retinocephalic vascular malformation syndrome (bonnet-dechaume-blanc syndrome or wyburn-mason syndrome): review of the literature". Surv Ophthalmol. 53 (3): 227–49. doi:10.1016/j.survophthal.2007.10.001. PMID 18501269.
  36. ↑ Singh AD, Rundle PA, Rennie I (March 2005). "Retinal vascular tumors". Ophthalmol Clin North Am. 18 (1): 167–76, x. doi:10.1016/j.ohc.2004.07.005. PMID 15763202.
  37. ↑ Mansour AM, Wells CG, Jampol LM, Kalina RE (1989). "Ocular complications of arteriovenous communications of the retina". Arch Ophthalmol. 107 (2): 232–6. PMID 2644928.
  38. ↑ Barreira AK, Nakashima AF, Takahashi VK, Marques GA, Minelli T, Santo AM (2016). "RETINAL RACEMOSE HEMANGIOMA WITH FOCAL MACULAR INVOLVEMENT". Retin Cases Brief Rep. 10 (1): 52–4. doi:10.1097/ICB.0000000000000159. PMID 26076059.
  39. ↑ Meyer, Carsten H.; Rodrigues, Eduardo B.; Mennel, Stefan; Klingmüller, Volker; Kroll, Peter (2007). "Functional and anatomical investigations in racemose haemangioma". Acta Ophthalmologica Scandinavica. 85 (7): 764–771. doi:10.1111/j.1600-0420.2007.00911.x. ISSN 1395-3907.
  40. ↑ Augsburger JJ, Goldberg RE, Shields JA, Mulberger RD, Magargal LE (1980). "Changing appearance of retinal arteriovenous malformation". Albrecht Von Graefes Arch Klin Exp Ophthalmol. 215 (1): 65–70.
  41. ↑ Zeng Y, Fan YC, Liu Y, Wan L (April 2016). "Cerebral Arteriovenous Malformation in Wyburn-Mason Syndrome". J Pediatr Ophthalmol Strabismus. 53 Online: e15–7. doi:10.3928/01913913-20160406-01. PMID 27112169.
  42. ↑ Pangtey B, Kohli P, Ramasamy K (December 2018). "Wyburn-Mason syndrome presenting with bilateral retinal racemose hemangioma with unilateral serous retinal detachment". Indian J Ophthalmol. 66 (12): 1869–1871. doi:10.4103/ijo.IJO_455_18. PMC 6256888. PMID 30451208. Vancouver style error: initials (help)
  43. ↑ Meyer CH, Rodrigues EB, Mennel S, Klingmüller V, Kroll P (November 2007). "Functional and anatomical investigations in racemose haemangioma". Acta Ophthalmol Scand. 85 (7): 764–71. doi:10.1111/j.1600-0420.2007.00911.x. PMID 17711544.
  44. ↑ Papageorgiou, Konstantinos I; Ghazi-Nouri, Seyed MS; Andreou, Petros S (2006). "Vitreous and subretinal haemorrhage: an unusual complication of retinal racemose haemangioma". Clinical and Experimental Ophthalmology. 34 (2): 176–177. doi:10.1111/j.1442-9071.2006.01178.x. ISSN 1442-6404.
  45. ↑ Eskandari MR, Rahimi-Ardabili B, Javadzade A (2013). "Racemose hemangioma type 2: the first case report from the Middle East". Int Ophthalmol. 33 (1): 95–7. doi:10.1007/s10792-012-9636-z. PMID 23053770.
  46. ↑ Elizalde J, Vasquez L (2011). "Spontaneous regression in a case of racemose haemangioma archer's type 2". Retin Cases Brief Rep. 5 (4): 294–6. doi:10.1097/ICB.0b013e3181f66a97. PMID 25390417.
  47. ↑ Karagiannis, Dimitrios; Panagiotidis, Dimitrios; Tsoubris, Ioannis; Theodossiadis, Panagiotis (2011). "Spontaneous development of macular ischemia in a case of racemose hemangioma". Clinical Ophthalmology: 931. doi:10.2147/OPTH.S21925. ISSN 1177-5483.
  48. ↑ Fujita H, Nakano K, Kumon Y, Inoue H, Sakaki S (August 1989). "[A case of Wyburn-Mason syndrome]". Rinsho Shinkeigaku (in Japanese). 29 (8): 1039–44. PMID 2598528.
  49. ↑ "Twenty-seven years follow-up of a patient with congenital retinocephalofacial vascular malformation syndrome and additional congenital malformations (Bonnet-Dechaume-Blanc syndrome or Wyburn-Mason syndrome)". pubmed.
  50. ↑ "Binarization of enhanced depth imaging optical coherence tomographic images of an eye with Wyburn-Mason syndrome: a case report".
  51. ↑ Zeng Y, Fan YC, Liu Y, Wan L (April 2016). "Cerebral Arteriovenous Malformation in Wyburn-Mason Syndrome". J Pediatr Ophthalmol Strabismus. 53 Online: e15–7. doi:10.3928/01913913-20160406-01. PMID 27112169.
  52. ↑ Archer, Desmond B.; Deutman, August; Ernest, J. Terry; Krill, Alex E. (1973). "Arteriovenous Communications of the Retina". American Journal of Ophthalmology. 75 (2): 224–241. doi:10.1016/0002-9394(73)91018-0. ISSN 0002-9394.
  53. ↑ Onder HI, Alisan S, Tunc M (March 2015). "Serous retinal detachment and cystoid macular edema in a patient with Wyburn-Mason syndrome". Semin Ophthalmol. 30 (2): 154–6. doi:10.3109/08820538.2013.835832. PMID 24171831.
  54. ↑ Iwata, Akiko; Mitamura, Yoshinori; Niki, Masanori; Semba, Kentaro; Egawa, Mariko; Katome, Takashi; Sonoda, Shozo; Sakamoto, Taiji (2015). "Binarization of enhanced depth imaging optical coherence tomographic images of an eye with Wyburn-Mason syndrome: a case report". BMC Ophthalmology. 15 (1). doi:10.1186/s12886-015-0014-2. ISSN 1471-2415.
  55. ↑ Kittelberger, Reinhold; Davis, Paul F.; Stehbens, William E. (1989). "An improved immunofluorescence techniquefor the histological examination of blood vessel tissue". Acta Histochemica. 86 (2): 137–IN2. doi:10.1016/S0065-1281(89)80082-0. ISSN 0065-1281.
  56. ↑ Schmidt, D; Agostini, H; Schumacher, M (2010). "Twenty-seven years follow-up of a patient with congenital retinocephalofacial vascular malformation syndrome and additional congenital malformations (Bonnet-dechaume-blanc syndrome or wyburn-mason syndrome)". European Journal of Medical Research. 15 (2): 88. doi:10.1186/2047-783X-15-2-88. ISSN 2047-783X.
  57. ↑ "Twenty-seven years follow-up of a patient with congenital retinocephalofacial vascular malformation syndrome and additional congenital malformations (Bonnet-Dechaume-Blanc syndrome or Wyburn-Mason syndrome)".
  58. ↑ Schmidt, D; Agostini, H; Schumacher, M (2010). "Twenty-seven years follow-up of a patient with congenital retinocephalofacial vascular malformation syndrome and additional congenital malformations (Bonnet-dechaume-blanc syndrome or wyburn-mason syndrome)". European Journal of Medical Research. 15 (2): 88. doi:10.1186/2047-783X-15-2-88. ISSN 2047-783X.
  59. ↑ Numaguchi Y, Kitamura K, Fukui M, Ikeda J, Hasuo K, Kishikawa T; et al. (1982). "Intracranial venous angiomas". Surg Neurol. 18 (3): 193–202. PMID 7179074.
  60. ↑ Eskandari MR, Rahimi-Ardabili B, Javadzade A (2013). "Racemose hemangioma type 2: the first case report from the Middle East". Int Ophthalmol. 33 (1): 95–7. doi:10.1007/s10792-012-9636-z. PMID 23053770.
  61. ↑ Barreira AK, Nakashima AF, Takahashi VK, Marques GA, Minelli T, Santo AM (2016). "RETINAL RACEMOSE HEMANGIOMA WITH FOCAL MACULAR INVOLVEMENT". Retin Cases Brief Rep. 10 (1): 52–4. doi:10.1097/ICB.0000000000000159. PMID 26076059.
  62. ↑ Dayani PN, Sadun AA (May 2007). "A case report of Wyburn-Mason syndrome and review of the literature". Neuroradiology. 49 (5): 445–56. doi:10.1007/s00234-006-0205-x. PMID 17235577.
  63. ↑ Pangtey B, Kohli P, Ramasamy K (December 2018). "Wyburn-Mason syndrome presenting with bilateral retinal racemose hemangioma with unilateral serous retinal detachment". Indian J Ophthalmol. 66 (12): 1869–1871. doi:10.4103/ijo.IJO_455_18. PMC 6256888. PMID 30451208. Vancouver style error: initials (help)
  64. ↑ Slim E, Antoun J, Kourie HR, Schakkal A, Cherfan G (October 2014). "Intravitreal bevacizumab for retinal capillary hemangioblastoma: A case series and literature review". Can. J. Ophthalmol. 49 (5): 450–7. doi:10.1016/j.jcjo.2014.07.007. PMID 25284102.
  65. ↑ Naik AU, Bhende M, Selvakumar A, Khetan V (April 2019). "Management of retinal artery macroaneurysm exudation in Wyburn-Mason syndrome with intravitreal ranibizumab". Indian J Ophthalmol. 67 (4): 556. doi:10.4103/ijo.IJO_1497_18. PMC 6446644. PMID 30900598.
  66. ↑ Chatziralli, Irini; Maniatea, Aggeliki; Koubouni, Kyriakoula; Parikakis, Efstratios; Mitropoulos, Panagiotis (2016). "Intravitreal Ranibizumab for Retinal Arterial Macroaneurysm: Long-Term Results of a Prospective Study". European Journal of Ophthalmology. 27 (2): 215–219. doi:10.5301/ejo.5000863. ISSN 1120-6721.
  67. ↑ Bormann, Caroline; Heichel, Jens; Hammer, Ute; Habermann, Anke; Hammer, Thomas (2017). "Intravitreal Anti-Vascular Endothelial Growth Factor for Macular Edema due to Complex Retinal Arterial Macroaneurysms". Case Reports in Ophthalmology. 8 (1): 141–147. doi:10.1159/000458517. ISSN 1663-2699.
  68. ↑ Lavin, M J; Marsh, R J; Peart, S; Rehman, A (1987). "Retinal arterial macroaneurysms: a retrospective study of 40 patients". British Journal of Ophthalmology. 71 (11): 817–825. doi:10.1136/bjo.71.11.817. ISSN 0007-1161.
  69. ↑ Abdel-Khalek, M. N.; Richardson, J. (1986). "Retinal macroaneurysm: natural history and guidelines for treatment". British Journal of Ophthalmology. 70 (1): 2–11. doi:10.1136/bjo.70.1.2. ISSN 0007-1161.
  70. ↑ Khairallah M, Allagui M, Chachia N (1993). "[Congenital retinal arteriovenous fistula and central retinal vein occlusion]". J Fr Ophtalmol. 16 (2): 117–21. PMID 8496554.
  71. ↑ Singer MA, Tan CS, Surapaneni KR, Sadda SR (2015). "Targeted photocoagulation of peripheral ischemia to treat rebound edema". Clin Ophthalmol. 9: 337–41. doi:10.2147/OPTH.S75842. PMC 4335623. PMID 25709396.

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