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The Consequences of Hypomorphic RPE65 for Rod and Cone Photoreceptors.
Journal article

The Consequences of Hypomorphic RPE65 for Rod and Cone Photoreceptors.

  • Samardzija M Laboratory for Retinal Cell Biology, Department of Ophthalmology, University of Zurich, Wagistr. 14, 8952, Schlieren, Switzerland. marijana.samardzija@usz.uzh.ch.
  • Barben M Laboratory for Retinal Cell Biology, Department of Ophthalmology, University of Zurich, Wagistr. 14, 8952, Schlieren, Switzerland. maya.barben@uzh.ch.
  • Geiger P Laboratory for Retinal Cell Biology, Department of Ophthalmology, University of Zurich, Wagistr. 14, 8952, Schlieren, Switzerland. philipp.geiger@bluewin.ch.
  • Grimm C Laboratory for Retinal Cell Biology, Department of Ophthalmology, University of Zurich, Wagistr. 14, 8952, Schlieren, Switzerland. cgrimm@opht.uzh.ch.
  • 2015-10-03
Published in:
  • Advances in experimental medicine and biology. - 2016
Blindness
Cones
Degeneration
Dystrophy
Mouse model
Nrl
Photoreceptors
R91W
RPE65
Retina
Animals
Basic-Leucine Zipper Transcription Factors
Disease Models, Animal
Electroretinography
Eye Proteins
Humans
Mice, Knockout
Mice, Transgenic
Mutation, Missense
Retinal Cone Photoreceptor Cells
Retinal Degeneration
Retinal Rod Photoreceptor Cells
cis-trans-Isomerases
English RPE65 is essential for both rod- and cone-mediated vision. So far, more than 120 disease-associated mutations have been identified in the human RPE65 gene. Differential clinical manifestations suggested that some patients suffer from null mutations while others retain residual RPE65 activity and some useful vision. To understand the mechanism of retinal degeneration or dysfunction caused by such hypomorphic RPE65 alleles, we generated an Rpe65 (R91W) knock-in mouse (R91W) that expresses a mutant RPE65 protein with reduced function. Data obtained suggested that the R91W mouse is highly suitable to study the impact of RPE65 insufficiency on rod pathophysiology. To study the impact on cones, we combined the R91W with the Nrl (-/-) mouse that develops an all-cone retina. Here we summarize the consequences of hypomorphic RPE65 function (reduced 11-cis-retinal synthesis) for rod and cone pathophysiology.
Language
  • English
Open access status
closed
Identifiers
Persistent URL
https://sonar.ch/global/documents/96935
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