Autosomal dominant Stargardt-like macular dystrophy: identification of a new family with a mutation in the ELOVL4 gene.
Am J Ophthalmol
; 136(3): 542-5, 2003 Sep.
Article
em En
| MEDLINE
| ID: mdl-12967813
ABSTRACT
PURPOSE:
To describe the clinical features and identify the mutation responsible for an autosomal dominant macular degeneration occurring in a four-generation family.METHODS:
Family members underwent clinical examination and genealogical characterization. Mutation screening of the ELOVL4 gene was performed.RESULTS:
Patients reported visual loss occurring at a mean age of 20 years. Fundus examination revealed varying degrees of central macular atrophy with or without flecks in all affected individuals. DNA sequence analysis showed a 5-bp deletion in exon 6 of the ELOVL4 gene, confirming the diagnosis of autosomal dominant Stargardt-like macular dystrophy. Genealogical analysis showed that this family represents a new affected branch of a previously described 12-generation family (31 branches) with this disorder.CONCLUSIONS:
We characterized a new branch of a family with autosomal dominant Stargardt-like macular dystrophy. Identification of the disease-causing gene allows for improved genetic counseling of affected individuals.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Deleção de Genes
/
Proteínas do Olho
/
Degeneração Macular
/
Proteínas de Membrana
Tipo de estudo:
Diagnostic_studies
Limite:
Adolescent
/
Adult
/
Child
/
Female
/
Humans
/
Male
/
Middle aged
Idioma:
En
Revista:
Am J Ophthalmol
Ano de publicação:
2003
Tipo de documento:
Article
País de afiliação:
Estados Unidos