Festschrift: Peter Beighton
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' affiliations
J C Gardner, Institute of Ophthalmology, University College London, London, UK
M Michaelides, Institute of Ophthalmology, University College London, London, UK; and Moorfields Eye Hospital, National Health Service Foundation Trust, London, UK
A J Hardcastle, Institute of Ophthalmology, University College London, London, UK
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Article History
Date published: 2016-05-25
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