Retinoblastoma history and symptoms: Difference between revisions
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The hallmark of retinoblastoma is [[leukocoria]] which is an abnormal appearance of the [[retina]] as viewed through the [[pupil]], also known as amaurotic cat's eye reflex. Other common [[symptoms]] include [[strabismus]] and [[proptosis]]. The [[clinical]] presentation depends on the stage of the [[disease]]. | The hallmark of retinoblastoma is [[leukocoria]] which is an abnormal appearance of the [[retina]] as viewed through the [[pupil]], also known as amaurotic cat's eye reflex. Other common [[symptoms]] include [[strabismus]] and [[proptosis]]. The [[clinical]] presentation depends on the stage of the [[disease]]. | ||
==History and Symptoms== | ==History and Symptoms== | ||
==History== | ===History=== | ||
History of a patient with retinoblastoma should be focused on the following factors:<ref name="pmid8299091">{{cite journal |vauthors=Shields CL, Shields JA, Baez K, Cater JR, De Potter P |title=Optic nerve invasion of retinoblastoma. Metastatic potential and clinical risk factors |journal=Cancer |volume=73 |issue=3 |pages=692–8 |date=February 1994 |pmid=8299091 |doi= |url=}}</ref> | *History of a patient with retinoblastoma should be focused on the following factors:<ref name="pmid8299091">{{cite journal |vauthors=Shields CL, Shields JA, Baez K, Cater JR, De Potter P |title=Optic nerve invasion of retinoblastoma. Metastatic potential and clinical risk factors |journal=Cancer |volume=73 |issue=3 |pages=692–8 |date=February 1994 |pmid=8299091 |doi= |url=}}</ref> | ||
*Complete perinatal history including: | **Complete perinatal history including: | ||
**[[Pregnancy complications]] | ***[[Pregnancy complications]] | ||
**[[Prematurity]] | ***[[Prematurity]] | ||
**Birth weight | ***Birth weight | ||
**Type of [[delivery]] | ***Type of [[delivery]] | ||
**Use of oxygen | ***Use of oxygen | ||
*Personal history of: | **Personal history of: | ||
* | ***Exposure to pets | ||
**Exposure to pets | ***Recent trauma | ||
**Recent trauma | ***Systemic illness | ||
**Systemic illness | **[[Family history]] of: | ||
*[[Family history]] of: | ***[[Genetic diseases|Genetic disease]] | ||
**[[Genetic diseases|Genetic disease]] | ***[[Blindness]] | ||
**[[Blindness]] | ***Eye surgery due to a tumor | ||
** | ***Visual problems in the childhood | ||
** | *Clinical [[Features (pattern recognition)|features]] of retinoblatoma are approximately the same in variable studies and the common findings are as follow:<ref name="pmid24792399">{{cite journal |vauthors=Chebbi A, Bouguila H, Boussaid S, Ben Aleya N, Zgholi H, Malek I, Zeghal I, Nacef L |title=[Clinical features of retinoblastoma in Tunisia] |language=French |journal=J Fr Ophtalmol |volume=37 |issue=6 |pages=442–8 |date=June 2014 |pmid=24792399 |doi=10.1016/j.jfo.2014.01.009 |url=}}</ref><ref name="pmid14654593">{{cite journal |vauthors=Abramson DH, Beaverson K, Sangani P, Vora RA, Lee TC, Hochberg HM, Kirszrot J, Ranjithan M |title=Screening for retinoblastoma: presenting signs as prognosticators of patient and ocular survival |journal=Pediatrics |volume=112 |issue=6 Pt 1 |pages=1248–55 |date=December 2003 |pmid=14654593 |doi= |url=}}</ref><ref name="ShifaGezmu2017">{{cite journal|last1=Shifa|first1=Jemal Zeberga|last2=Gezmu|first2=Alemayehu Mekonnen|title=Presenting signs of retinoblastoma at a tertiary level teaching hospital in Ethiopia|journal=Pan African Medical Journal|volume=28|year=2017|issn=1937-8688|doi=10.11604/pamj.2017.28.66.11199}}</ref> | ||
* | **Abnormal appearance of the [[pupil]] ([[leukocoria]], also known as amaurotic cat's [[Red reflex|eye reflex]]), (Please see below). | ||
Clinical [[Features (pattern recognition)|features]] of retinoblatoma are approximately the same in variable studies and the common findings are as follow:<ref name="pmid24792399">{{cite journal |vauthors=Chebbi A, Bouguila H, Boussaid S, Ben Aleya N, Zgholi H, Malek I, Zeghal I, Nacef L |title=[Clinical features of retinoblastoma in Tunisia] |language=French |journal=J Fr Ophtalmol |volume=37 |issue=6 |pages=442–8 |date=June 2014 |pmid=24792399 |doi=10.1016/j.jfo.2014.01.009 |url=}}</ref><ref name="pmid14654593">{{cite journal |vauthors=Abramson DH, Beaverson K, Sangani P, Vora RA, Lee TC, Hochberg HM, Kirszrot J, Ranjithan M |title=Screening for retinoblastoma: presenting signs as prognosticators of patient and ocular survival |journal=Pediatrics |volume=112 |issue=6 Pt 1 |pages=1248–55 |date=December 2003 |pmid=14654593 |doi= |url=}}</ref><ref name="ShifaGezmu2017">{{cite journal|last1=Shifa|first1=Jemal Zeberga|last2=Gezmu|first2=Alemayehu Mekonnen|title=Presenting signs of retinoblastoma at a tertiary level teaching hospital in Ethiopia|journal=Pan African Medical Journal|volume=28|year=2017|issn=1937-8688|doi=10.11604/pamj.2017.28.66.11199}}</ref> | **Deviation of look to one side ([[strabismus]]) (especially when the [[macula]] is involved) | ||
*Abnormal appearance of the [[pupil]] ([[leukocoria]], also known as amaurotic cat's [[Red reflex|eye reflex]]), (Please see below). | **[[Visual problems|Decreased visual acquity]] | ||
*Deviation of look to one side ([[strabismus]]) (especially when the [[macula]] is involved) | **Painful [[red eye]] | ||
*[[ | **[[Loss of vision]] | ||
*Painful [[red eye]] | *Presenting [[symptoms]] in adult onset of the [[tumor]] are insidious and are such as:<ref name="KhetanSengupta2016">{{cite journal|last1=Khetan|first1=Vikas|last2=Sengupta|first2=Sabyasachi|last3=Pan|first3=Utsab|title=Adult onset retinoblastoma|journal=Indian Journal of Ophthalmology|volume=64|issue=7|year=2016|pages=485|issn=0301-4738|doi=10.4103/0301-4738.190099}}</ref> | ||
*[[Loss of vision]] | **[[Vision loss|Dimness of vision]] | ||
Presenting [[symptoms]] in adult onset of the [[tumor]] are insidious and are such as:<ref name="KhetanSengupta2016">{{cite journal|last1=Khetan|first1=Vikas|last2=Sengupta|first2=Sabyasachi|last3=Pan|first3=Utsab|title=Adult onset retinoblastoma|journal=Indian Journal of Ophthalmology|volume=64|issue=7|year=2016|pages=485|issn=0301-4738|doi=10.4103/0301-4738.190099}}</ref> | **Perception of [[Floaters|floater]] | ||
*[[Vision loss|Dimness of vision]] | **[[Eye Pain|Pain]] and [[Red eye|redness]] | ||
*Perception of [[Floaters|floater]] | |||
*[[Eye Pain|Pain]] and [[Red eye|redness]] | |||
[[File:Retinoblastoma leukocoria.jpeg |thumb|none|200px|T2 MRI showing retinoblastoma<ref name="radio1">Image courtesy of Dr. Frank Gaillard [http://www.radiopaedia.org Radiopaedia] (original file [http://radiopaedia.org/cases/retinoblastoma-leukocoria]).[http://radiopaedia.org/licence Creative Commons BY-SA-NC</ref>]] | [[File:Retinoblastoma leukocoria.jpeg |thumb|none|200px|T2 MRI showing retinoblastoma<ref name="radio1">Image courtesy of Dr. Frank Gaillard [http://www.radiopaedia.org Radiopaedia] (original file [http://radiopaedia.org/cases/retinoblastoma-leukocoria]).[http://radiopaedia.org/licence Creative Commons BY-SA-NC</ref>]] | ||
Advanced and/or [[metastatic]] form of the [[tumor]] also presents with constitutional [[symptoms]] such as: | *Advanced and/or [[metastatic]] form of the [[tumor]] also presents with constitutional [[symptoms]] such as: | ||
*[[Weight loss]] | **[[Weight loss]] | ||
*[[Vomiting]] | **[[Vomiting]] | ||
*[[Headache]] | **[[Headache]] | ||
Patients with | *Patients with retinoblastoma may also present with delay in [[developmental milestones]] and [[intellectual disability]] which may be perceived by their caregivers.<ref name="ClarkAvishay2015">{{cite journal|last1=Clark|first1=Robin D.|last2=Avishay|first2=Stefanie G.|title=Retinoblastoma: Genetic Counseling and Testing|year=2015|pages=77–88|doi=10.1007/978-3-662-43451-2_8}}</ref> | ||
*[[Intellectual disability]] may be the result of accompanying [[disease]] or with no clear reason. | **[[Intellectual disability]] may be the result of accompanying [[disease]] or with no clear reason. | ||
*[[13q deletion syndrome|Chromosome 13q14 deletion]] may cause | **[[13q deletion syndrome|Chromosome 13q14 deletion]] may cause retinoblastoma and [[intellectual disability]]. | ||
* | **Retinoblastoma has been also reported in a patient with [[Fragile-X Syndrome|Fragile x syndrome]]. | ||
==References== | ==References== | ||
{{reflist|2}} | {{reflist|2}} | ||
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [2]; Associate Editor(s)-in-Chief: Sahar Memar Montazerin, M.D.[3] Simrat Sarai, M.D. [4]
Overview
The hallmark of retinoblastoma is leukocoria which is an abnormal appearance of the retina as viewed through the pupil, also known as amaurotic cat's eye reflex. Other common symptoms include strabismus and proptosis. The clinical presentation depends on the stage of the disease.
History and Symptoms
History
- History of a patient with retinoblastoma should be focused on the following factors:[1]
- Complete perinatal history including:
- Pregnancy complications
- Prematurity
- Birth weight
- Type of delivery
- Use of oxygen
- Personal history of:
- Exposure to pets
- Recent trauma
- Systemic illness
- Family history of:
- Genetic disease
- Blindness
- Eye surgery due to a tumor
- Visual problems in the childhood
- Complete perinatal history including:
- Clinical features of retinoblatoma are approximately the same in variable studies and the common findings are as follow:[2][3][4]
- Abnormal appearance of the pupil (leukocoria, also known as amaurotic cat's eye reflex), (Please see below).
- Deviation of look to one side (strabismus) (especially when the macula is involved)
- Decreased visual acquity
- Painful red eye
- Loss of vision
- Presenting symptoms in adult onset of the tumor are insidious and are such as:[5]
- Dimness of vision
- Perception of floater
- Pain and redness
- Advanced and/or metastatic form of the tumor also presents with constitutional symptoms such as:
- Patients with retinoblastoma may also present with delay in developmental milestones and intellectual disability which may be perceived by their caregivers.[7]
- Intellectual disability may be the result of accompanying disease or with no clear reason.
- Chromosome 13q14 deletion may cause retinoblastoma and intellectual disability.
- Retinoblastoma has been also reported in a patient with Fragile x syndrome.
References
- ↑ Shields CL, Shields JA, Baez K, Cater JR, De Potter P (February 1994). "Optic nerve invasion of retinoblastoma. Metastatic potential and clinical risk factors". Cancer. 73 (3): 692–8. PMID 8299091.
- ↑ Chebbi A, Bouguila H, Boussaid S, Ben Aleya N, Zgholi H, Malek I, Zeghal I, Nacef L (June 2014). "[Clinical features of retinoblastoma in Tunisia]". J Fr Ophtalmol (in French). 37 (6): 442–8. doi:10.1016/j.jfo.2014.01.009. PMID 24792399.
- ↑ Abramson DH, Beaverson K, Sangani P, Vora RA, Lee TC, Hochberg HM, Kirszrot J, Ranjithan M (December 2003). "Screening for retinoblastoma: presenting signs as prognosticators of patient and ocular survival". Pediatrics. 112 (6 Pt 1): 1248–55. PMID 14654593.
- ↑ Shifa, Jemal Zeberga; Gezmu, Alemayehu Mekonnen (2017). "Presenting signs of retinoblastoma at a tertiary level teaching hospital in Ethiopia". Pan African Medical Journal. 28. doi:10.11604/pamj.2017.28.66.11199. ISSN 1937-8688.
- ↑ Khetan, Vikas; Sengupta, Sabyasachi; Pan, Utsab (2016). "Adult onset retinoblastoma". Indian Journal of Ophthalmology. 64 (7): 485. doi:10.4103/0301-4738.190099. ISSN 0301-4738.
- ↑ Image courtesy of Dr. Frank Gaillard Radiopaedia (original file [1]).[http://radiopaedia.org/licence Creative Commons BY-SA-NC
- ↑ Clark, Robin D.; Avishay, Stefanie G. (2015). "Retinoblastoma: Genetic Counseling and Testing": 77–88. doi:10.1007/978-3-662-43451-2_8.