Article
[Pathology of opsins and vision disorders].
La Revue du praticien - 1 May 1994
Abitbol M, Eppelbaum M, Dolfuss H, Dufier J L
Abstract excerpt
Mutations of the gene encoding rhodopsin are responsible for 30% of the cases autosomal dominant retinitis pigmentosa. Rhodopsin molecules are key G-coupled transmembrane proteins initiating the visual transduction cascade in rods. These cells are specialized retinal cells allowing the detection of low intensity lights. Mutations in the rhodopsin gene lead to the progressive destruction of rods, clinically...
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