Oculocutaneous albinism

ICD-10 Code E70.32

Oculocutaneous albinism

Definition

Oculocutaneous albinism (OCA) describes a group of inherited disorders of melanin biosynthesis characterized by a generalized reduction in pigmentation of hair, skin and eyes and variable ocular findings including nystagmus, reduced visual acuity and photophobia. Variants include OCA1A (the most severe form), OCA1B, OCA1-minimal pigment (OCA1-MP), OCA1-temperature sensitive (OCA1-TS), OCA2, OCA3, OCA4, OCA5, OCA6 and OCA7.

Also known as non-syndromic oculocutaneous albinism, nonsyndromic oculocutaneous albinism, OCA — per MONDO

Also identified as