Ocular Albinism Type 1

Ocular Albinism type 1 (OA1), also called as Nettleship-Falls syndrome, is the most common type of Ocular Albinism with a prevalence rate of 1:50,000. It is an inheritable classical Mendelian type X-linked recessive disorder wherein the retinal pigment epithelium lacks pigment while hair and skin appear normal. Since it is an X-linked disorder, it occurs mostly in males, whole females are carriers unless they are homozygous. 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.