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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.〔Oetting, W.S. (2002). New insights into ocular albinism type 1(OA1): Mutations and polymorphisms of the ''Oa1'' gene. ''Human Mutations'' 19:85.〕〔Incerti, B., Cortese, K., Pizzigoni, A., Surace, E.M., Varani, S., Coppola, M., Jeffery, G., Seeliger, M., Jaissle, G., Bennett, D.C., Marigo, V., Schiaffino, M.V., Tacchetti, C. and Ballabio, A. (2000). Oa1 knock-out: New insights on the pathogenesis of ocular albinism type 1. ''Human Molecular Genetics'' 9(19):2781.〕 It is an inheritable classical Mendelian type X-linked recessive disorder wherein the retinal pigment epithelium lacks pigment while hair and skin appear normal.〔Burns, W.N., Schiaffino, V.M. and Lewis, R.A. (1998). Repeated transmission of X-linked ocular albinism type 1 by a carrier oocyte donor. Fertility and Sterility ''70(6):''1169.〕〔Carden, S.M., Boissy, R.E., Schoettker, P.J. and Good, W.V. (1998). Albinism: Modern molecular diagnosis. British Journal of Ophthalmology ''82:''189.〕 Since it is an X-linked disorder, it occurs mostly in males, while females are carriers unless they are homozygous.〔Shen, B., Samaraweera, P., Rosenberg, B. and Orlow, S.J. (2001). Ocular albinism 1: More than meets the eye. ''Pigment Cell Research'' 14:243.〕 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.〔Schiaffino, M.V., d'Addio, M., Alloni, A., Baschirotto, C., Valetti, C., Cortese, K., Puri, C., Bassi, M.T., Colla, C., De Luca, M., Tacchetti, C. and Ballabio, A. (1999). Ocular albinism: Evidence for a defect in an intracellular signal transduction system. ''Nature Genetics'' 23:108.〕
==Albinism==
The term ''albinism'' (''albus'' means ‘white’ ) refers to a heterogeneous group of congenital disorders in melanin pigment biogenesis. Pigmentation process maybe affected in one or many ways due to mutations. Abnormal pigmentation maybe at the level of embryogenesis in regions where melanocytes fail to populate. The melanin biosynthetic pathway may also be affected due to mutations. Sometimes one or many of the genes responsible for biogenesis of organelles may be mutated.〔Kushimoto, T., Basrur, V., Valencia, J., Matsunaga, J., Viera, W.D., Ferrans, V.J., Muller, J., Appella, E. and Hearing, V.J. (2001). A model for melanosome biogenesis based on the purification and analysis of early melanosomes. ''Proceedings at the National Academy of Sciences'' 98(19):10698.〕
Albinism may manifest itself as oculocutaneous (OCA) or just ocular (OA). There occur at least ten different types of OCA and four types of OA.〔Incerti, B., Cortese, K., Pizzigoni, A., Surace, E.M., Varani, S., Coppola, M., Jeffery, G., Seeliger, M., Jaissle, G., Bennett, D.C., Marigo, V., Schiaffino, M.V., Tacchetti, C. and Ballabio, A. (2000). Oa1 knock-out: New insights on the pathogenesis of ocular albinism type 1. ''Human Molecular Genetics'' 9(19):2781.〕〔Hegde, M., Lewis, R.A. and Richards, C.S. (2002). Diagnostic DNA testing for X-linked ocular albinism (OA1) with a hierarchical mutation screening protocol. ''Genetic Testing'' 6(1):7.〕 OCA refers to a group of autosomal recessive disorders in which melanin is reduced or even absent leading to pale skin with increased risk of skin cancer. OCA1 is caused due to mutations in tyrosinase gene affecting its catalytic or synthetic activity.〔Kushimoto, T., Basrur, V., Valencia, J., Matsunaga, J., Viera, W.D., Ferrans, V.J., Muller, J., Appella, E. and Hearing, V.J. (2001). A model for melanosome biogenesis based on the purification and analysis of early melanosomes. ''Proceedings at the National Academy of Sciences'' 98(19):10698.〕 OCA2 is a condition where ''TYR'' gene is not mutated but the P polypeptide is. Mutational defects in TRP-1 protein leads to OCA3.
Ocular albinism results from defects in the melanin system, which may arise from either defects in the OA1 receptor, or mutations of either the Tyr gene or P transporter.〔Kushimoto, T., Basrur, V., Valencia, J., Matsunaga, J., Viera, W.D., Ferrans, V.J., Muller, J., Appella, E. and Hearing, V.J. (2001). A model for melanosome biogenesis based on the purification and analysis of early melanosomes. ''Proceedings at the National Academy of Sciences'' 98(19):10698.〕
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