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

Markus N Preising, Steffen Heegaard


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.

Original languageEnglish
JournalTrends in Molecular Medicine
Issue number2
Pages (from-to)51-4
Number of pages4
Publication statusPublished - Feb 2004
Externally publishedYes


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


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