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X-linked recessive ocular albinism

ORPHA:54· ICD-10 E70.3

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.

Prevalence
1-9 / 1 000 000
Inheritance
X-linked recessive
Age of onset
Infancy, Neonatal