First Author | Redmond TM | Year | 1998 |
Journal | Nat Genet | Volume | 20 |
Issue | 4 | Pages | 344-51 |
PubMed ID | 9843205 | Mgi Jnum | J:51293 |
Mgi Id | MGI:1314995 | Doi | 10.1038/3813 |
Citation | Redmond TM, et al. (1998) Rpe65 is necessary for production of 11-cis-vitamin A in the retinal visual cycle. Nat Genet 20(4):344-51 |
abstractText | 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. Further-more, 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 depend-ent on a separate pathway. |