A dominant form of inherited retinal degeneration caused by a non-photoreceptor cell-specific mutation

Proc Natl Acad Sci U S A. 1997 Oct 14;94(21):11645-50. doi: 10.1073/pnas.94.21.11645.

Abstract

We have isolated a dominant mutation, night blindness a (nba), that causes a slow retinal degeneration in zebrafish. Heterozygous nba fish have normal vision through 2-3 months of age but subsequently become night blind. By 9.5 months of age, visual sensitivity of affected fish may be decreased more than two log units, or 100-fold, as measured behaviorally. Electroretinographic (ERG) thresholds of mutant fish are also raised significantly, and the ERG b-wave shows a delayed implicit time. These defects are due primarily to a late-onset photoreceptor cell degeneration involving initially the rods but eventually the cones as well. Homozygous nba fish display an early-onset neuronal degeneration throughout the retina and elsewhere in the central nervous system. As a result, animals develop with small eyes and die by 4-5 days postfertilization (pf). These latter data indicate that the mutation affecting nba fish is not in a photoreceptor cell-specific gene.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adaptation, Ocular
  • Aging
  • Animals
  • Embryo, Nonmammalian
  • Escape Reaction
  • Fish Diseases / genetics*
  • Genes, Dominant
  • Genetic Carrier Screening
  • Mutation*
  • Night Blindness / genetics
  • Night Blindness / physiopathology
  • Night Blindness / veterinary
  • Retina / growth & development
  • Retina / pathology
  • Retina / physiopathology*
  • Retinal Degeneration / genetics*
  • Retinal Degeneration / physiopathology
  • Retinal Degeneration / veterinary*
  • Sensory Thresholds
  • Visual Acuity
  • Zebrafish