n South African Medical Journal - Cone opsins, colour blindness and cone dystrophy : genotype-phenotype correlations : the new millennium
|Article Title||Cone opsins, colour blindness and cone dystrophy : genotype-phenotype correlations : the new millennium|
|© Publisher:||Health and Medical Publishing Group (HMPG)|
|Journal||South African Medical Journal|
|Affiliations||1 University College London, UK, 2 University College London, UK, 3 University College London, UK and 4 Moorfields Eye Hospital, UK|
|Publication Date||Jun 2016|
|Pages||75 - 78|
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.
Article metrics loading...