Reactome: A Curated Pathway Database

Diseases associated with visual transduction (R-HSA-2474795) [Homo sapiens]


The process of vision involves two stages; the retinoid cycle which supplies and regenerates the visual chromophore required for vision and phototransduction which propagates the light signal. Defects in the genes involved in the retinoid cycle cause degenerative retinal diseases. These defective genes are described here (for reviews see Travis et al. 2007, Palczewski 2010, Fletcher et al. 2011, den Hollander et al. 2008).

Name Identifier Synonyms
retinal disease 5679 [Retinopathy (disorder), Retinal disorder, retina disorder]
Literature References
pubMedId Title Journal Year
21377628 Animal models of retinal disease Prog Mol Biol Transl Sci 2011
18632300 Leber congenital amaurosis: genes, proteins and disease mechanisms Prog Retin Eye Res 2008
20435355 Retinoids for treatment of retinal diseases Trends Pharmacol. Sci. 2010
16968212 Diseases caused by defects in the visual cycle: retinoids as potential therapeutic agents Annu. Rev. Pharmacol. Toxicol. 2007