Ocular albinism type 1 is the most common form of this condition, affecting at least one in every 60,000 males. Mutations in the G-protein coupled receptor 143 (GPR143) gene, also known as OA1 ...

Individuals with oculocutaneous albinism, type 1 (OCA1) have white hair, very pale skin, and light-colored irises because they have none, or very little, of the pigment melanin in their skin, hair ...

Journal reference: George, A., et al. (2022) In vitro disease modeling of oculocutaneous albinism type 1 and 2 using human induced pluripotent stem cell-derived retinal pigment epithelium.

HPS, first described in 1959 by F Hermansky and P Pudlak, [1] is an autosomal recessive inherited disorder consisting of the following triad of symptoms: (1) partial oculocutaneous albinism (with ...

It affects people of all races and ethnicities, with oculocutaneous albinism (OCA) affecting 1 in 20,000 people globally and ocular albinism (OA) affecting at least 1 in 60,000 men.