Oculocutaneous albinism type 5

Orpha code: 370091OMIM code: 615312

Definition

A form of oculocutaneous albinism characterized by white skin, golden hair, photophobia, nystagmus, foveal hypoplasia and impaired visual acuity, that affects males and females equally. Patients have been reported only in a consanguineous Pakistani family. The responsible gene has not yet been detected.

Disease data
Classification

Disease

Synonyms
OCA5
OCA5
ORPHA code
370091
OMIM code
615312
ICD10 code
E70.3
ICD11 code
-

No additional description.

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