[Pathology of opsins and vision disorders].
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 translated by night blindness, a progressive bilateral loss of the peripheral visual field, and predominant alterations of the rod component of the electroretinograms. Inherited colour vision deficiencies are mainly caused by alterations of the genes encoding coloured opsins. These proteins are G-coupled receptors specialized in visual transduction in the cones. These sensorial cells are localized in the center of the neural retina where they allow the detection of refined details and chromatic lights. Rearrangements of the genes encoding the green and the red color pigments are responsible for daltonism.
Abitbol
M
M
Service d'ophtalmologie de l'hôpital Necker-Enfants-Malades, Paris.
Eppelbaum
M
M
Dolfuss
H
H
Dufier
J L
JL
D003117:Color Vision Defects / Q000235:genetics; D006801:Humans; D009154:Mutation; D012174:Retinitis Pigmentosa / Q000235:genetics*; D012243:Rhodopsin / Q000737:chemistry / Q000235:genetics*
D012243:Rhodopsin
Pathologie des opsines et troubles de la vision.