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.
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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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