Rod and cone visual cycle consequences of a null mutation in the 11-cis-retinol dehydrogenase gene in man.

@article{Cideciyan2000RodAC,
  title={Rod and cone visual cycle consequences of a null mutation in the 11-cis-retinol dehydrogenase gene in man.},
  author={Artur V. Cideciyan and Françoise Haeseleer and Robert N Fariss and Tom{\'a}s S. Alem{\'a}n and G F Jang and Christophe L. M. J. Verlinde and Michael F Marmor and Samuel G. Jacobson and Krzysztof Palczewski},
  journal={Visual neuroscience},
  year={2000},
  volume={17 5},
  pages={667-678}
}
Vertebrate vision starts with photoisomerization of the 11-cis-retinal chromophore to all-trans-retinal. Biosynthesis of 11-cis-retinal is required to maintain vision. A key enzyme catalyzing the oxidation of 11-cis-retinol is 11-cis-retinol dehydrogenase (11-cis-RDH), which is encoded by the RDH5 gene. 11-cis-RDH is expressed in the RPE and not in the neural retina. The consequences of a lack of 11-cis-RDH were studied in a family with fundus albipunctatus. We identified the causative novel… CONTINUE READING
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