Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle.

@article{Thompson2005RetinalDA,
  title={Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle.},
  author={D. Thompson and A. Janecke and Jessica Lange and Kecia L. Feathers and C. H{\"u}bner and C. McHenry and D. Stockton and G. Rammesmayer and J. Lupski and G. Anti{\~n}olo and C. Ayuso and M. Baiget and P. Gouras and J. Heckenlively and A. D. den Hollander and S. Jacobson and R. Lewis and P. Sieving and B. Wissinger and S. Yzer and E. Zrenner and G. Utermann and A. Gal},
  journal={Human molecular genetics},
  year={2005},
  volume={14 24},
  pages={
          3865-75
        }
}
Retinoid dehydrogenases/reductases catalyze key oxidation-reduction reactions in the visual cycle that converts vitamin A to 11-cis retinal, the chromophore of the rod and cone photoreceptors. It has recently been shown that mutations in RDH12, encoding a retinol dehydrogenase, result in severe and early-onset autosomal recessive retinal dystrophy (arRD). In a cohort of 1011 individuals diagnosed with arRD, we have now identified 20 different disease-associated RDH12 mutations, of which 16 are… Expand
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References

SHOWING 1-10 OF 41 REFERENCES
Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy
  • 208
  • PDF
Biochemical Defects in 11-cis-Retinol Dehydrogenase Mutants Associated with Fundus Albipunctatus*
  • 33
  • PDF
Mutations in the gene encoding lecithin retinol acyltransferase are associated with early-onset severe retinal dystrophy
  • 177
Vitamin A metabolism in the retinal pigment epithelium: genes, mutations, and diseases
  • 187
Mutations in RPE65 cause autosomal recessive childhood–onset severe retinal dystrophy
  • 588
Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis.
  • 166
Role of Photoreceptor-specific Retinol Dehydrogenase in the Retinoid Cycle in Vivo*
  • 136
  • PDF
Rpe65 is necessary for production of 11-cis-vitamin A in the retinal visual cycle
  • 831
Recessive mutations in the RLBP1 gene encoding cellular retinaldehyde-binding protein in a form of retinitis punctata albescens.
  • 134
  • PDF
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4
5
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