Genetics

Oculocutaneous Albinism Type 1 Synonym: OCA1. Includes: Oculocutaneous Albinism Type 1A (OCA1A), Oculocutaneous Albinism Type 1B (OCA1B)   Characteristics.¬†Oculocutaneous albinism type 1 (OCA1) is characterized by hypopigmentation of the skin and hair and the distinctive ocular changes found in all types of albinism, including: nystagmus; reduced iris pigment with irisContinue Reading

Individuals with all variations of OCA1 have white or nearly white scalp hair, brows, and lashes; white skin; and blue irides with extensive transillumination at birth. The presence of white scalp hair at birth should not be the exclusive clinical criterion for OCA1 because some persons with OCA2 may seemContinue Reading

Oculocutaneous albinism type 2 (OCA2) is characterized by hypopigmentation of the skin and hair and the characteristic ocular changes found in all types of albinism, including nystagmus; reduced iris pigment with iris translucency; reduced retinal pigment with visualization of the choroidal blood vessels on ophthalmoscopic examination; foveal hypoplasia associated withContinue Reading