<unk>  <unk> , is the most common<unk>  of<unk><unk> , with a prevalence rate of<unk> :50,000. It is an inheritable classical Mendelian<unk>  X-linked recessive disorder wherein the retinal pigment epithelium lacks pigment while hair and skin appear normal. Since it is usually an X-linked disorder, it occurs mostly in males, while females are carriers unless they are homozygous. About 60 missense and nonsense mutations, insertions, and deletions have been identified in<unk> . Mutations in<unk>  have been linked to defective glycosylation and thus improper intracellular transportation. The eponyms of the name "Nettleship–Falls syndrome" are the ophthalmologists Edward Nettleship and Harold Francis Falls.
Ocular albinism type 1
Oculocutaneous albinism type I
Oculocutaneous albinism
Retinoschisis
Lafora disease
Leber congenital amaurosis
Bayoud disease
Tangier disease