title: X-Linked ocular albinism; Nettleship-Falls ocular albinism.
abstract: A 39-year-old man with foveal hypoplasia, nystagmus, and decreased visual acuity was found to have multiple, cutaneous, hypopigmented macules. Macromelanosomes were demonstrated in normal skin on histopathologic examination. The patient's constellation of findings along with a strong X-linked inheritance pattern in family members led to the diagnosis of X-linked ocular albinism, which is an uncommon condition that is characterized by congenital nystagmus, iris translucency, hypopigmentation of the ocular fundus, strabismus, foveal hypoplasia, photophobia, and impaired vision.
authors.affiliation: Department of Dermatology, New York University, USA.
authors.forename: Alexandria V
authors.initials: AV
authors.lastname: Booth
authors.forename: Anthony C
authors.initials: AC
authors.lastname: Soldano
authors.forename: Jonathan
authors.initials: J
authors.lastname: Levine
authors.forename: Miriam
authors.initials: M
authors.lastname: Pomeranz
mesh_terms: D000328:Adult; D016117:Albinism, Ocular / Q000175:diagnosis* / Q000235:genetics; D003937:Diagnosis, Differential; D040181:Genetic Diseases, X-Linked / Q000175:diagnosis* / Q000235:genetics; D008040:Genetic Linkage; D006801:Humans; D008297:Male