Oculocutaneous albinism type 1

Orpha code: 352731OMIM code: 606952

Definition

A form of oculocutaneous albinism (OCA) characterized by a spectrum of hypopigmentation of skin hair and eyes, ranging from little or no pigmentation to localized pigementation. Nystagmus, photophobia and reduced visual acuity are frequently present. The subtypes include OCA1A, OCA1B, type 1 minimal pigment oculocutaneous albinism (OCA1-MP) and type 1 temperature sensitive oculocutaneous albinism (OCA1-TS).

Disease data
Classification

Disease

Synonyms
OCA1
OCA1
ORPHA code
352731
OMIM code
606952
ICD10 code
E70.3
ICD11 code
-

No additional description.

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