View source for Medicine:Ocular albinism

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'''Ocular albinism''' is a form of albinism which, in contrast to [[Medicine:Oculocutaneous albinism|oculocutaneous albinism]], presents primarily in the [[Biology:Human eye|eye]]s.<ref name="urlOcular albinism - Genetics Home Reference">{{cite web |url=http://ghr.nlm.nih.gov/condition=ocularalbinism |title=Ocular albinism - Genetics Home Reference }}</ref>  There are multiple forms of ocular albinism, which are clinically similar.<ref name="Andrews">James, William; Berger, Timothy; Elston, Dirk (2005). ''Andrews' Diseases of the Skin: Clinical Dermatology''. (10th ed.). Saunders. {{ISBN|0-7216-2921-0}}.</ref>{{rp|865}}

Both known genes are on the [[Biology:X chromosome|X chromosome]]. When the term ''"autosomal recessive ocular albinism"'' ("AROA") is used, it usually refers to mild variants of [[Medicine:Oculocutaneous albinism|oculocutaneous albinism]] rather than ocular albinism, which is ''X-linked''.<ref name="pmid18326704">{{cite journal |vauthors=Hutton SM, Spritz RA |title=A comprehensive genetic study of autosomal recessive ocular albinism in Caucasian patients |journal=Invest. Ophthalmol. Vis. Sci. |volume=49 |issue=3 |pages=868–72 |date=March 2008 |pmid=18326704 |doi=10.1167/iovs.07-0791 |doi-access=free }}</ref>
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==Types==

{| class="wikitable"
| '''Name''' || '''OMIM''' || '''Gene''' || '''Description'''
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 | Ocular albinism, type 1 (OA1)   || {{OMIM|300500||none}}   || [[Biology:GPR143|GPR143]] || Also known as Nettleship–Falls syndrome,<ref>{{WhoNamedIt|synd|990}}</ref><ref>E. Nettleship. On some hereditary diseases of the eye. Transactions of the Ophthalmological Societies of the United Kingdom, 1908-1909, 29: 57-198.</ref><ref>H. F. Falls. Sex-linked ocular albinism displaying typical fundal changes in the female heterozygote. American Journal of Ophthalmology, Chicago, 1951, 34: 41-50.</ref> is the most common variety of ocular albinism. OA1 is usually associated with nystagmus, and difficult to otherwise detect in females; males show more readily observable symptoms.
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==References==

{{Reflist}}

== External links ==
{{Medical resources
| DiseasesDB      = 
| ICD10           = {{ICD10|E|70|3|e|70}}
| ICD9            = {{ICD9|270.2}}
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| MeshID          = D016117
| ICD10CM         = {{ICD10CM|E70.31}}
| Orphanet        = 284804
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* [https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=x-oa  GeneReviews/NCBI/NIH/UW entry on Ocular Albinism, X-Linked]

{{Amino acid metabolic pathology}}
{{X-linked disorders}}
{{Channelopathy}}

{{DEFAULTSORT:Ocular Albinism}}
[[Category:Amino acid metabolism disorders]]

{{Sourceattribution|Ocular albinism}}