What is Oculocutaneous Albinism, OCA2-related? Oculocutaneous albinism, OCA2-related, also known as OCA type 2, is an inherited condition that causes unique coloring of the skin, hair, and eyes. Several genes can cause oculocutaneous albinism and oculocutaneous albinism, OCA2-related, is caused by harmful genetic changes (variants) in the OCA2 gene. Individuals with oculocutaneous albinism, OCA2-related, cannot produce a dark-colored pigment known as melanin. The result is that individuals with the condition have lighter-colored skin, hair, and eyes than their family members. Common features of oculocutaneous albinism, OCA2-related, include very light skin, yellow to light brown hair, and gray or tan eyes. Individuals can have vision abnormalities, including involuntary eye movements (nystagmus) and sensitivity to light (photophobia). Some individuals with oculocutaneous albinism, OCA2-related, may see increased pigmentation and/or development of freckles as they age. Individuals with oculocutaneous albinism, OCA2-related, are at high risk for sunburns and have a significantly increased risk of developing skin cancers. How common is Oculocutaneous Albinism, OCA2-related? The prevalence of oculocutaneous albinism, OCA2-related, varies across different ancestries. The prevalence in African populations is 1 in 10,000, with some sub-Saharan African populations having an even greater prevalence ranging from 1/1,100 to 1/3,900. The condition is also more common in specific Native American populations, with a prevalence between 1/227 to 1/2,000, depending on the tribe. The prevalence in European populations is 1 in 37,000. How is Oculocutaneous Albinism, OCA2-related treated? There is no cure for oculocutaneous albinism, OCA2-related. Disease management includes sunscreen and clothing to protect the individual from sunburns and reduce the risk of skin cancer. Sensitivity to light is addressed by wearing dark glasses or a wide-brimmed hat. Contact lenses or glasses can improve vision. Regular checkups with physicians who specialize in skin disorders (dermatology) and eye disorders (ophthalmology) are recommended. What is the prognosis for an individual with Oculocutaneous Albinism, OCA2-related? With proper skin protection and medical care, people with oculocutaneous albinism, OCA2-related can have average lifespans. This condition does not affect an individual's development or intelligence. Other names foroculocutaneous albinism, OCA2-related OCA, type II OCA2 brown oculocutaneous albinism (BOCA) References Gregg et al., 2021, Genet Med., 23(10):1793-1806, PMID: 34285390 Liu et al., 2021, Surv Ophthalmol, 66(2):362-377, PMID: 33129801 Ma et al., 2023, Arch Dermatol Res, 315(2):107-116, PMID: 35217926 Online Mendelian Inheritance in Man, OMIM [203200], 2022, https://www.omim.org/entry/203200 Thomas et al., 2023, https://www.ncbi.nlm.nih.gov/books/NBK590568/