Oculocutaneous albinism

Definition

A group of rare genetic hypopigmentation disorders 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, OCA7 and OCA8.

Disease data

Classification

Clinical group

Synonyms

OCA

ORPHA code

OMIM code

ICD10 code

E70.3

ICD11 code

EC23.20

*Soruce