n South African Medical Journal - Cone opsins, colour blindness and cone dystrophy : genotype-phenotype correlations : the new millennium

Supplement 1
  • ISSN : 0256-9574
  • E-ISSN: 2078-5135



X-linked cone photoreceptor disorders caused by mutations in the (L) and (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.

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