Albinism physical examination: Difference between revisions
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** Decreased [[iris]] [[pigmentation]] which varies from pink [[eyes]] to light blue, green, gray, or light brown | ** Decreased [[iris]] [[pigmentation]] which varies from pink [[eyes]] to light blue, green, gray, or light brown | ||
** Yellow to orange [[retina]] due to decreased [[melanosis]] of the retinal epithelium | ** Yellow to orange [[retina]] due to decreased [[melanosis]] of the retinal epithelium | ||
* The specific findings of each subtype of [[albinism]] are as follows: | * The specific findings of each subtype of [[albinism]] are as follows: <ref name="pmid12770978">{{cite journal| author=Dorey SE, Neveu MM, Burton LC, Sloper JJ, Holder GE| title=The clinical features of albinism and their correlation with visual evoked potentials. | journal=Br J Ophthalmol | year= 2003 | volume= 87 | issue= 6 | pages= 767-72 | pmid=12770978 | doi=10.1136/bjo.87.6.767 | pmc=1771702 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=12770978 }} </ref><ref name="pmid17980020">{{cite journal| author=Grønskov K, Ek J, Brondum-Nielsen K| title=Oculocutaneous albinism. | journal=Orphanet J Rare Dis | year= 2007 | volume= 2 | issue= | pages= 43 | pmid=17980020 | doi=10.1186/1750-1172-2-43 | pmc=2211462 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17980020 }} </ref> | ||
* [[Oculocutaneous albinism]] 1 ( | ** [[Oculocutaneous albinism]] 1 (OCA1): | ||
** Type A; complete absence of [[melanin]], patients have white [[skin]], white [[hair]], [[nystagmus]], [[foveal hypoplasia]], light-colored, pink or red [[irides]], [[iris]] translumination, and [[visual acuity]] of 20/100 to 20/400 | *** Type A; complete absence of [[melanin]], patients have white [[skin]], white [[hair]], [[nystagmus]], [[foveal hypoplasia]], light-colored, pink or red [[irides]], [[iris]] translumination, and [[visual acuity]] of 20/100 to 20/400 | ||
** Type B; some [[tyrosine]] function reserved, patients have yellow to light brown [[skin]], hazel, or light brown [[irides]], and [[visual acuity]] of 20/100 to 20/200. | *** Type B; some [[tyrosine]] function reserved, patients have yellow to light brown [[skin]], hazel, or light brown [[irides]], and [[visual acuity]] of 20/100 to 20/200. | ||
* [[ OCA2]]: | ** [[ OCA2]]: | ||
** Classic [[OCA2]] | *** Classic [[OCA2]]; Creamy white to tan [[skin]], yellow, blond, or light brown [[hair]], [[eyebrow]], [[eyelashes]], blue, hazel, brown or gray [[irides]], [[visual acuity]] ranges from 20/25 to 20/200 | ||
** Brown [[OCA2]] | *** Brown [[OCA2]]; Brown [[skin]], [[hair]], and [[eyes]]; patients are hypo pigmented compared to family members | ||
** Red [[OCA2]] | *** Red [[OCA2]]; Red [[hair]], light-colored [[eyes]] along with [[vision]] problems | ||
** OCA3: | |||
*** Known as red/rufous OCA, light brown or reddish brown [[skin]] and [[hair]], blue-brown [[irides]], and undetactable [[visual]] impairment | |||
** OCA 4: | |||
*** Similar to classic [[OCA2]] and visual acuity ranges from 20/30 to 20/400; usually 20/100 to 20/200 | |||
** OCA5: | |||
*** white [[skin]] and golden [[hair]], [[nystagmus]],photophobia, [[foveal hypoplasia]], and impaired [[visual acuity]] are present | |||
** OCA6: | |||
*** white [[skin]] and light [[hair]], brown [[irides]], mild [[nystagmus]], [[foveal hypoplasia]], and mild [[photophobia]] are present along with [[visual acuity]] of 20/100. | |||
** OCA7: | |||
*** lighter [[skin]] color compared to family members, light blond to dark brown [[hair]], [[nystagmus]], [[foveal hypoplasia]], [[iris]] transillumination are present alon with [[visual acuity]] of 20/30 to 20/400 | |||
** [[Hermansky-Pudlak syndrome]] ([[HPS]]): | |||
*** white to olive [[skin]], white to brown [[hair]], hypopigmented [[irides]] along with [[nystagmus]], [[foveal hypoplasia]], [[iris]] transillumination and [[visual acuity]] of 20/50 to 20/400 | |||
*** Individuals with [[HPS]] might have [[bleeding]] disorders due to [[platelet dysfucntion]], [[kidney]] and [[lung]] abnormalities, [[immunodeficiency]] and [[hemophagocytic syndrome]], [[pulmonary fibrosis]], and [[granulomatous colitis]] | |||
** [[Chediak-Higashi syndrome]] ([[CHS]]): | |||
*** OCA symptoms along with [[pyogenic infections]], [[neutropenia]], [[peripheral neuropathy]], and [[coagulopathy]] | |||
** [[Angelman syndrome]] and [[Prader-Willi syndrome]]: | |||
*** Indiviuals have hypopigmented [[skin]] and [[hair]] compared to members of family, if ocular findings are present, it is associated with [[OCA2]] | |||
** [[Ocular albinism]] ([[OA1]]): | |||
*** [[Hypopigmentation]] is only present in [[eyes]] along with [[nystagmus]], [[foveal hypoplasia]], [[photophobia]] and [[visual acuity]] ranges from 20/100 to 20/200 | |||
*** Since OA1 is [[X-linked]] disorder, males have complete [[phenotype]] while females rarely develope [[nystagmus]] and low vision | |||
==References== | ==References== | ||
{{Reflist|2}} | {{Reflist|2}} | ||
Revision as of 16:48, 20 August 2021
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Risk calculators and risk factors for Albinism physical examination |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Shadan Mehraban, M.D.[2]
Overview
Physical Examination
- Ocular physical examination findings include:[1]
- Refractive errors
- Strabismus
- Nystagmus
- Foveal hypoplasia
- Iris transillumination
- Decreased iris pigmentation which varies from pink eyes to light blue, green, gray, or light brown
- Yellow to orange retina due to decreased melanosis of the retinal epithelium
- The specific findings of each subtype of albinism are as follows: [2][3]
- Oculocutaneous albinism 1 (OCA1):
- Type A; complete absence of melanin, patients have white skin, white hair, nystagmus, foveal hypoplasia, light-colored, pink or red irides, iris translumination, and visual acuity of 20/100 to 20/400
- Type B; some tyrosine function reserved, patients have yellow to light brown skin, hazel, or light brown irides, and visual acuity of 20/100 to 20/200.
- OCA2:
- Classic OCA2; Creamy white to tan skin, yellow, blond, or light brown hair, eyebrow, eyelashes, blue, hazel, brown or gray irides, visual acuity ranges from 20/25 to 20/200
- Brown OCA2; Brown skin, hair, and eyes; patients are hypo pigmented compared to family members
- Red OCA2; Red hair, light-colored eyes along with vision problems
- OCA3:
- OCA 4:
- Similar to classic OCA2 and visual acuity ranges from 20/30 to 20/400; usually 20/100 to 20/200
- OCA5:
- white skin and golden hair, nystagmus,photophobia, foveal hypoplasia, and impaired visual acuity are present
- OCA6:
- white skin and light hair, brown irides, mild nystagmus, foveal hypoplasia, and mild photophobia are present along with visual acuity of 20/100.
- OCA7:
- lighter skin color compared to family members, light blond to dark brown hair, nystagmus, foveal hypoplasia, iris transillumination are present alon with visual acuity of 20/30 to 20/400
- Hermansky-Pudlak syndrome (HPS):
- white to olive skin, white to brown hair, hypopigmented irides along with nystagmus, foveal hypoplasia, iris transillumination and visual acuity of 20/50 to 20/400
- Individuals with HPS might have bleeding disorders due to platelet dysfucntion, kidney and lung abnormalities, immunodeficiency and hemophagocytic syndrome, pulmonary fibrosis, and granulomatous colitis
- Chediak-Higashi syndrome (CHS):
- OCA symptoms along with pyogenic infections, neutropenia, peripheral neuropathy, and coagulopathy
- Angelman syndrome and Prader-Willi syndrome:
- Ocular albinism (OA1):
- Hypopigmentation is only present in eyes along with nystagmus, foveal hypoplasia, photophobia and visual acuity ranges from 20/100 to 20/200
- Since OA1 is X-linked disorder, males have complete phenotype while females rarely develope nystagmus and low vision
- Oculocutaneous albinism 1 (OCA1):
References
- ↑ "Albinism - StatPearls - NCBI Bookshelf".
- ↑ Dorey SE, Neveu MM, Burton LC, Sloper JJ, Holder GE (2003). "The clinical features of albinism and their correlation with visual evoked potentials". Br J Ophthalmol. 87 (6): 767–72. doi:10.1136/bjo.87.6.767. PMC 1771702. PMID 12770978.
- ↑ Grønskov K, Ek J, Brondum-Nielsen K (2007). "Oculocutaneous albinism". Orphanet J Rare Dis. 2: 43. doi:10.1186/1750-1172-2-43. PMC 2211462. PMID 17980020.