Cone opsins, colour blindness and cone dystrophy: Genotype-phenotype correlations.
S Afr Med J
; 106(6 Suppl 1): S75-8, 2016 May 25.
Article
em En
| MEDLINE
| ID: mdl-27245533
ABSTRACT
X-linked cone photoreceptor disorders caused by mutations in the OPN1LW (L) and OPN1MW (M) cone opsin genes on chromosome Xq28 include a range of conditions from mild stable red-green colour vision deficiencies to severe cone dystrophies causing progressive loss of vision and blindness. Advances in molecular genotyping and functional analyses of causative variants, combined with deep retinal phenotyping, are unravelling genetic mechanisms underlying the variability of cone opsin disorders.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Defeitos da Visão Cromática
/
Células Fotorreceptoras Retinianas Cones
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Opsinas dos Cones
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Distrofias de Cones e Bastonetes
Limite:
Humans
Idioma:
En
Ano de publicação:
2016
Tipo de documento:
Article