title: Cone opsins, colour blindness and cone dystrophy: Genotype-phenotype correlations.
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.
authors.affiliation: Institute of Ophthalmology, University College London, London, UK. jessica.gardner@ucl.ac.uk.
authors.forename: J C
authors.initials: JC
authors.lastname: Gardner
authors.forename: M
authors.initials: M
authors.lastname: Michaelides
authors.forename: A J
authors.initials: AJ
authors.lastname: Hardcastle
mesh_terms: D003117:Color Vision Defects / Q000235:genetics* / Q000473:pathology; D055358:Cone Opsins / Q000235:genetics*; D000071700:Cone-Rod Dystrophies / Q000235:genetics* / Q000473:pathology; D056726:Genetic Association Studies; D040181:Genetic Diseases, X-Linked / Q000235:genetics; D005838:Genotype; D006801:Humans; D008967:Molecular Biology; D009154:Mutation; D010641:Phenotype; D017949:Retinal Cone Photoreceptor Cells / Q000473:pathology*; D017299:Rod Opsins / Q000235:genetics
chemical_list: D055358:Cone Opsins; D017299:Rod Opsins; C095855:long-wavelength opsin; C095854:middle-wavelength opsin