Autosomal dominant pattern dystrophy of the retina associated with a 4-base pair insertion at codon 140 in the peripherin/RDS gene.
Arch Ophthalmol
; 113(4): 451-5, 1995 Apr.
Article
em En
| MEDLINE
| ID: mdl-7710395
ABSTRACT
OBJECTIVE:
To define the phenotype of a retinal dystrophy associated with a 4-base pair insertion at codon 140 of the peripherin/RDS gene. PATIENTS Six affected members spanning two generations of a single family were examined. Five were studied in detail electrophysiologically and psychophysically.METHODS:
Psychophysical testing included color vision testing, photopic and scotopic static threshold perimetry, and dark adaptometry. Electrophysiological testing included flash and pattern electroretinography, as well as electrooculography.RESULTS:
Clinical findings ranged from subtle pigmentary changes at the level of the retinal pigment epithelium to more widespread pigmentary changes associated with choroidal neovascularization. Those with severe fundus changes exhibited greater abnormalities in psychophysical and electrophysiological testing than those with minimal fundus changes.CONCLUSIONS:
This particular peripherin/RDS gene mutation is associated with dominantly inherited pattern dystrophy of the retina. The phenotypic expression is variable in a manner not explained by age.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Degeneração Retiniana
/
Códon
/
Glicoproteínas de Membrana
/
Mutagênese Insercional
/
Proteínas do Olho
/
Proteínas de Filamentos Intermediários
/
Proteínas do Tecido Nervoso
Tipo de estudo:
Risk_factors_studies
Limite:
Aged
/
Female
/
Humans
/
Male
/
Middle aged
Idioma:
En
Ano de publicação:
1995
Tipo de documento:
Article