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.
Read more about Ocular Albinism Type 1: Albinism, Symptoms, Microscopic Examination, Treatment, Molecular Biology of Oa1, Structure of OA1 Protein, Localization of The OA1 Protein, Receptor-Ligand Interactions, Mutations, Functions of OA1, External Links
Famous quotes containing the word type:
“We have two kinds of “conference.” One is that to which the office boy refers when he tells the applicant for a job that Mr. Blevitch is “in conference.” This means that Mr. Blevitch is in good health and reading the paper, but otherwise unoccupied. The other type of “conference” is bona fide in so far as it implies that three or four men are talking together in one room, and don’t want to be disturbed.”
—Robert Benchley (1889–1945)