|Gene (OMIM no.)|
|Function of gene/protein|
|Clinical phenotype (with OMIM phenotype no.)|
|Ocular features||The ocular phenotype and visual function are highly variable among individuals but tend to be less severe overall than other OCA types. They may have some/all of the following features:|
|Molecular diagnosis||Next generation sequencing|
|Therapies under research|
OCA3 affects predominantly Africans, with a prevalence of up to 1:8500 being reported but cases have been reported in other ethnicities as well.[7–10] There are two common variants among southern Africans, p.S166X and c.368delA, both of which are nonsense mutations and account for 90% of rufous OCA among that population.
- Wiriyasermkul P, Moriyama S, Nagamori S. Membrane transport proteins in melanosomes: Regulation of ions for pigmentation. Biochim Biophys Acta Biomembr. 2020;1862(12):183318.
- Grønskov K, Ek J, Brondum-Nielsen K. Oculocutaneous albinism. Orphanet J Rare Dis. 2007;2(43).
- Sarangarajan R, Boissy RE. Tyrp1 and oculocutaneous albinism type 3. Pigment Cell Res. 2001;14(6):437-444.
- Boissy RE, Zhao H, Oetting WS, et al. Mutation in and lack of expression of tyrosinase-related protein-1 (TRP-1) in melanocytes from an individual with brown oculocutaneous albinism: a new subtype of albinism classified as “OCA3”. Am J Hum Genet. 1996;58(6):1145-1156.
- Manga P, Kerr R, Ramsay M, Kromberg JG. Biology and genetics of oculocutaneous albinism and vitiligo – common pigmentation disorders in southern Africa. S Afr Med J. 2013;103(12 Suppl 1):984-988. Published 2013 Jul 29.
- Kromberg JG, Castle DJ, Zwane EM, et al. Red or rufous albinism in southern Africa. Ophthalmic Paediatr Genet. 1990;11(3):229-235.
- Forshew T, Khaliq S, Tee L, et al. Identification of novel TYR and TYRP1 mutations in oculocutaneous albinism. Clin Genet. 2005;68(2):182-184.
- Kausar T, Jaworek TJ, Tariq N, et al. Genetic studies of TYRP1 and SLC45A2 in Pakistani patients with nonsyndromic oculocutaneous albinism. J Invest Dermatol. 2013;133(4):1099-1102.
- Rooryck C, Roudaut C, Robine E, Müsebeck J, Arveiler B. Oculocutaneous albinism with TYRP1 gene mutations in a Caucasian patient. Pigment Cell Res. 2006;19(3):239-242.
- Chiang PW, Spector E, Scheuerle A. A case of Asian Indian OCA3 patient. Am J Med Genet A. 2009;149A(7):1578-1580.
- Manga P, Kromberg JG, Box NF, Sturm RA, Jenkins T, Ramsay M. Rufous oculocutaneous albinism in southern African Blacks is caused by mutations in the TYRP1 gene. Am J Hum Genet. 1997;61(5):1095-1101.