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Cone opsins, colour blindness and cone dystrophy: Genotype-phenotype correlations

Gardner, JC; Michaelides, M; Hardcastle, AJ; (2016) Cone opsins, colour blindness and cone dystrophy: Genotype-phenotype correlations. The South African Medical Journal , 106 (6) S75-S78. 10.7196/SAMJ.2016.v106i6.11001. Green open access

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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.

Type: Article
Title: Cone opsins, colour blindness and cone dystrophy: Genotype-phenotype correlations
Open access status: An open access version is available from UCL Discovery
DOI: 10.7196/SAMJ.2016.v106i6.11001
Publisher version: http://dx.doi.org/10.7196/SAMJ.2016.v106i6.11001
Language: English
Additional information: Copyright © The Authors 2016. This is an Open Access article published under a Creative Commons Attribution - NonCommercial Works License (CC BY-NC 4.0) (http://creativecommons.org/licenses/by-nc/3.0/).
Keywords: Science & Technology, Life Sciences & Biomedicine, Medicine, General & Internal, General & Internal Medicine, Linked Incomplete Achromatopsia, Dysfunction Syndrome, Molecular Genetics, Vision, Myopia, Mutations, Monochromacy, Array
UCL classification: UCL
UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > Institute of Ophthalmology
URI: https://discovery.ucl.ac.uk/id/eprint/1496293
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