Albinism comprises a group of congenital hypopigmentary diseases that result from a defect in production of pigment due to dysfunction of melanocytes in the skin, eyes, and/or ears. The umbrella of albinism includes oculocutaneous albinism (4 types), ocular albinism, Chediak-Higashi syndrome, Hermansky-Pudlak syndrome, and Griscelli syndrome. Newborns present with generalized complete or partial loss in pigmentation of skin and hair. The basis for these diseases is mutations in the genes that regulate the multistep process of melanin synthesis, distribution of pigment by the melanocyte, and/or melanosome biogenesis. An infant with oculocutaneous albinism type 1 is shown with hypomelanotic skin, white hair, and pink irides.
(From Carden SM, et al. Br J Ophthal, 1998;82:189-195.)