A novel ABCR nonsense mutation responsible for late-onset fundus flavimaculatus.
Invest Ophthalmol Vis Sci
; 40(11): 2740-4, 1999 Oct.
Article
en En
| MEDLINE
| ID: mdl-10509673
ABSTRACT
PURPOSE:
To report the ophthalmologic features of a novel truncating mutation in the ABCR gene in a patient affected with late-onset fundus flavimaculatus (FFM).METHODS:
A complete ophthalmologic examination was performed in a 70-year-old patient, including best-corrected visual acuity measurement, slit lamp and fundus examination, fundus photographs, frequent fluorescein and indocyanine green angiographies, visual field testing, color vision analysis, electroretinogram, and electro-oculogram. The 50 exons of the ABCR gene were analyzed using direct sequencing.RESULTS:
Fluorescein and indocyanine green angiographies confirmed the diagnosis of FFM. A heterozygous base change was found, resulting in the substitution of an arginine to a stop at codon 152 of the ABCR gene.CONCLUSIONS:
A heterozygous nonsense ABCR gene mutation was found in a patient affected with FFM. No other mutation has been identified in the entire coding sequence and the promoter region, suggesting that a heterozygous severe ABCR mutant may be responsible for a mild and delayed FFM phenotype, different from that of age-related macular degeneration.
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Bases de datos:
MEDLINE
Asunto principal:
Segmento Externo de la Célula en Bastón
/
Transportadoras de Casetes de Unión a ATP
/
Degeneración Macular
/
Mutación
Tipo de estudio:
Diagnostic_studies
/
Prognostic_studies
Límite:
Aged
/
Humans
/
Male
Idioma:
En
Revista:
Invest Ophthalmol Vis Sci
Año:
1999
Tipo del documento:
Article
País de afiliación:
Francia