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Rpe65 is necessary for production of 11-cis-vitamin A in the retinal visual cycle.

Mutation of RPE65 can cause severe blindness from birth or early childhood, and RPE65 protein is associated with retinal pigment epithelium (RPE) vitamin A metabolism. Here, we show that Rpe65-deficient mice exhibit changes in retinal physiology and biochemistry. Outer segment discs of rod photoreceptors in Rpe65-/- mice are disorganized compared with those of Rpe65+/+ and Rpe65+/- mice. Rod function, as measured by electroretinography, is abolished in Rpe65-/- mice, although cone function remains. Rpe65-/- mice lack rhodopsin, but not opsin apoprotein. Furthermore, all-trans-retinyl esters over-accumulate in the RPE of Rpe65-/- mice, whereas 11-cis-retinyl esters are absent. Disruption of the RPE-based metabolism of all-trans-retinyl esters to 11-cis-retinal thus appears to underlie the Rpe65-/- phenotype, although cone pigment regeneration may be dependent on a separate pathway.

Pubmed ID: 9843205

Authors

  • Redmond TM
  • Yu S
  • Lee E
  • Bok D
  • Hamasaki D
  • Chen N
  • Goletz P
  • Ma JX
  • Crouch RK
  • Pfeifer K

Journal

Nature genetics

Publication Data

December 21, 1998

Associated Grants

  • Agency: NEI NIH HHS, Id: EY00331
  • Agency: NEI NIH HHS, Id: EY00444
  • Agency: NEI NIH HHS, Id: EY12231

Mesh Terms

  • Animals
  • Carrier Proteins
  • Esters
  • Eye Proteins
  • Mice
  • Mice, Knockout
  • Microscopy, Electron
  • Mutation
  • Phenotype
  • Proteins
  • Retina
  • Retinal Rod Photoreceptor Cells
  • Rhodopsin
  • Vision, Ocular
  • Vitamin A
  • cis-trans-Isomerases