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X-linked recessive ocular albinism

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description X-linked recessive ocular albinism (XLOA) is a rare disorder characterized by ocular hypopigmentation, foveal hypoplasia, nystagmus, photodysphoria, and reduced visual acuity in males.
Uniprot Description Form of albinism affecting only the eye. Pigment of the hair and skin is normal or only slightly diluted. Eyes may be severely affected with photophobia and reduced visual acuity. Nystagmus or strabismus are often associated. The irides and fundus are depigmented.
Mondo Term and Equivalent IDs
MONDO:0021019:  X-linked recessive ocular albinism
GARD:0008471: 
MESH:C537863: 
NCIT:C118785: 
Orphanet:54: 
SCTID:78642008: 
UMLS:C0342684: