X-linked recessive ocular albinism

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.

Also known as Nettleship-Falls syndrome, OA1, ocular albinism type 1, ocular albinism, Nettleship-Falls type, ocular albinism, type I, Nettleship-Falls type, XLOA — per MONDO

Also identified as

• ICD9 270.2 per MONDO
• MESH C537863 per MONDO
• NCIT C118785 per MONDO
• OMIM 300500 per MONDO
• Orphanet 54 per MONDO
• SCTID 78642008 per MONDO
• UMLS C0342684 per MONDO