X-Linked ocular albinism; Nettleship-Falls ocular albinism.
Dermatol Online J
; 14(5): 4, 2008 May 15.
Article
em En
| MEDLINE
| ID: mdl-18627740
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.
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Base de dados:
MEDLINE
Assunto principal:
Albinismo Ocular
/
Doenças Genéticas Ligadas ao Cromossomo X
/
Ligação Genética
Tipo de estudo:
Diagnostic_studies
Limite:
Adult
/
Humans
/
Male
Idioma:
En
Ano de publicação:
2008
Tipo de documento:
Article