" /> X-linked recessive ocular albinism - CISMeF





Preferred Label : X-linked recessive ocular albinism;

ICD-11 definition : X-linked recessive ocular albinism is a form of ocular albinism, a group of X-linked or autosomal genetic disorders characterized by partial or total lack of melanin pigmentation in the eyes. Eyes may be severely affected with photophobia and reduced visual acuity. Nystagmus or strabismus are often associated. The irides and fundus are depigmented.;

ICD-11 synonym : Ocular albinism, Nettleship-Falls type; OA1 - [Ocular albinism type 1]; Ocular albinism type 1;

ICD-11 acronym : OA1;

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X-linked recessive ocular albinism is a form of ocular albinism, a group of X-linked or autosomal genetic disorders characterized by partial or total lack of melanin pigmentation in the eyes. Eyes may be severely affected with photophobia and reduced visual acuity. Nystagmus or strabismus are often associated. The irides and fundus are depigmented.

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02/05/2025


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