What is Oculocutaneous Albinism, TYR-related? Oculocutaneous albinism, TYR-related, also known as OCA type 1, is an inherited condition that causes unique coloring of the skin, hair, and eyes. Several genes can cause oculocutaneous albinism and oculocutaneous albinism, TYR-related, is caused by harmful genetic changes (variants) in the TYR gene. Individuals with oculocutaneous albinism, TYR-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, TYR-related, include very light skin, white hair, and pink-colored eyes. Individuals may also experience involuntary eye movements (nystagmus), light sensitivity (photophobia), and poor vision. Individuals can develop some skin pigment as they get older. Individuals with oculocutaneous albinism, TYR-related, are at high risk for sunburns and have a significantly increased risk of developing skin cancers. How common is Oculocutaneous Albinism, TYR-related? The prevalence of oculocutaneous albinism, TYR-related, is approximately 1 in 40,000. It is the most common cause of oculocutaneous albinism in Japanese populations. How is Oculocutaneous Albinism, TYR-related treated? There is no cure for oculocutaneous albinism, TYR-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, TYR-related? With proper skin protection and medical care, people with oculocutaneous albinism, TYR-related, can have average lifespans. This condition usually does not affect an individual's development or intelligence. Other names foroculocutaneous albinism, TYR-related albinism I oculocutaneous albinism, type I oculocutaneous albinism, tyrosine-negative (ATN) 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 [203100], 2023, https://www.omim.org/entry/203100 Thomas et al., 2023, https://www.ncbi.nlm.nih.gov/books/NBK590568/