Recent advances in early-onset severe retinal degeneration: more than just basic research

Trends Mol Med. 2004 Feb;10(2):51-4. doi: 10.1016/j.molmed.2003.12.002.

Abstract

Successful treatment of early-onset sever retinal degeneration (EOSRD) in an animal model of the disease has provided the first proof-o-principle for retinal gene therapy of higher mammals. Currently, large sets of DNA samples are screened to identify patients with Leber's congenital amaurosis (LCA) carrying mutations in RPE65 as possible candidates for gene therapy trials. Research into EOSRD and LCA aims to identify the function of proteins involved or phenotypic changes upon mutation. These data will be used to describe the disease phenotype and identify parameters that can predict the outcome of gene therapy trials.

Publication types

  • Review

MeSH terms

  • Acyltransferases / genetics
  • Acyltransferases / metabolism
  • Adaptor Proteins, Signal Transducing
  • Animals
  • Carrier Proteins / genetics
  • Carrier Proteins / metabolism
  • Cytoskeletal Proteins
  • Disease Models, Animal
  • Eye Proteins
  • Genetic Predisposition to Disease / genetics*
  • Genetic Therapy*
  • Guanylate Cyclase / genetics
  • Guanylate Cyclase / metabolism
  • Homeodomain Proteins / genetics
  • Homeodomain Proteins / metabolism
  • Humans
  • Mice
  • Mice, Knockout
  • Mutation / genetics
  • Optic Atrophy, Hereditary, Leber / genetics*
  • Optic Atrophy, Hereditary, Leber / metabolism
  • Optic Atrophy, Hereditary, Leber / therapy*
  • Photoreceptor Cells, Vertebrate / metabolism
  • Pigment Epithelium of Eye / metabolism
  • Proteins / genetics
  • Proteins / metabolism
  • Receptors, Cell Surface / genetics
  • Receptors, Cell Surface / metabolism
  • Retinal Degeneration / genetics*
  • Retinal Degeneration / metabolism
  • Retinal Degeneration / therapy*
  • Trans-Activators / genetics
  • Trans-Activators / metabolism
  • cis-trans-Isomerases

Substances

  • AIPL1 protein, human
  • Adaptor Proteins, Signal Transducing
  • Aipl1 protein, mouse
  • Carrier Proteins
  • Cytoskeletal Proteins
  • Eye Proteins
  • Homeodomain Proteins
  • Proteins
  • RPGRIP1 protein, human
  • Receptors, Cell Surface
  • Trans-Activators
  • cone rod homeobox protein
  • guanylate cyclase 1
  • Acyltransferases
  • lecithin-retinol acyltransferase
  • retinoid isomerohydrolase
  • Guanylate Cyclase
  • cis-trans-Isomerases