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Article

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

South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde - 25 May 2016

Gardner J C, Michaelides M, Hardcastle A J

Abstract excerpt

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...

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Source

Identifiers

PMID: 27245533
DOI: 10.7196/SAMJ.2016.v106i6.11001

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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