Ocular albinism type 1
Most common type of ocular albinism / From Wikipedia, the free encyclopedia
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Ocular albinism type 1 (OA1) is the most common type of ocular albinism, with a prevalence rate of 1:50,000.[1][2] It is an inheritable classical Mendelian type X-linked recessive disorder wherein the retinal pigment epithelium lacks pigment while hair and skin appear normal.[3][4] Since it is usually an X-linked disorder, it occurs mostly in males, while females are carriers unless they are homozygous.[5] About 60 missense and nonsense mutations, insertions, and deletions have been identified in Oa1. Mutations in OA1 have been linked to defective glycosylation and thus improper intracellular transportation.[6]
Ocular albinism type 1 | |
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Other names | Nettleship–Falls syndrome |
Ocular albinism type 1 is inherited in an X-linked recessive manner | |
Specialty | Endocrinology |
The eponyms of the name "Nettleship–Falls syndrome" are the ophthalmologists Edward Nettleship and Harold Francis Falls.