Oculocutaneous albinism type 1
Type of disease: Rare conditions
Oculocutaneous albinism type 1 is a condition that affects the coloring of the skin, hair, and eyes. Signs and symptoms include very fair skin, white hair, an increased risk for skin damage with sun exposure, reduced vision (sharpness), light colored irises, nystagmus, and photophobia (eyes are sensitive to light). It is caused by changes in the TYR gene and is inherited in an autosomal recessive fashion. Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.