X-linked recessive ocular albinism

Orpha code: 54OMIM code: 300500

Definition

X-linked recessive ocular albinism (XLOA) is a rare disorder characterized by ocular hypopigmentation, foveal hypoplasia, nystagmus, photodysphoria, and reduced visual acuity in males.

Disease data
Classification

Disease

Synonyms
OA1
Albinizm oczny typu 1
Albinizm oczny typu Nettleshipa i Fallsa
OA1
XLOA
Ocular albinism type 1
Ocular albinism, Nettleship-Falls type
XLOA
ORPHA code
54
OMIM code
300500
ICD10 code
E70.3
ICD11 code
9E1Y

No additional description.

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