Overview LCA/EOSRD Cone/cone-rod dystrophy Additional information References Overview Gene (OMIM no.) GUCY2D (#600179) Function of gene/protein Protein: Retinal guanylyl cyclase...

Cone or cone-rod dystrophies encompasses a group of progressive inherited retinal dystrophies characterised by predominant impairment of cone-mediated vision. This may be accompanied by rod dysfunction. It can be an isolated phenotype or associated with systemic features (Alstrom syndrome and Bardet-Biedl syndrome).

Cone dystrophy and cone-rod dystrophy describe a group of inherited retinal disease that primarily affects of the normal cone photoreceptors of the retina. This results in reduced central vision and difficulty in recognising colours.

Overview Achromatopsia Additional information References Overview Gene (OMIM No.) CNGB3 (#605080) Function of gene/protein Protein: Cyclic nucleotide-gated (CNG) channel, beta-3...

Overview Cone/cone-rod dystrophy References Overview Gene (OMIM No.) TTLL5 (#612268) Function of gene/protein Protein: tubulin tyrosine ligase-like family, member 5...