Maintaining Cone Function in Rod-Cone Dystrophies

Adv Exp Med Biol. 2018:1074:499-509. doi: 10.1007/978-3-319-75402-4_62.

Abstract

Retinal degenerative diseases are a major cause of untreatable blindness due to a loss of photoreceptors. Recent advances in genetics and gene therapy for inherited retinal dystrophies (IRDs) showed that therapeutic gene transfer holds a great promise for vision restoration in people with currently incurable blinding diseases. Due to the huge genetic heterogeneity of IRDs that represents a major obstacle for gene therapy development, alternative therapeutic approaches are needed. This review focuses on the rescue of cone function as a therapeutic option for maintaining central vision in rod-cone dystrophies. It highlights recent developments in better understanding the mechanisms of action of the trophic factor RdCVF and its potential as a sight-saving therapeutic strategy.

Keywords: Aerobic glycolysis; Neuroprotective gene therapy; Nucleoredoxin-like-1; Photoreceptors; Retinal degeneration; Rod-derived cone viability factor.

Publication types

  • Review

MeSH terms

  • Alternative Splicing
  • Amino Acid Sequence
  • Cell Communication
  • Cone-Rod Dystrophies / therapy*
  • Dependovirus / genetics
  • Eye Proteins / physiology
  • Genetic Heterogeneity
  • Genetic Therapy*
  • Genetic Vectors / therapeutic use*
  • Glycolysis
  • Humans
  • Models, Molecular
  • Precision Medicine
  • Protein Conformation
  • Retinal Cone Photoreceptor Cells / drug effects
  • Retinal Cone Photoreceptor Cells / metabolism
  • Retinal Cone Photoreceptor Cells / physiology*
  • Retinal Rod Photoreceptor Cells / pathology
  • Retinal Rod Photoreceptor Cells / physiology
  • Sequence Alignment
  • Sequence Homology, Amino Acid
  • Thioredoxins / chemistry
  • Thioredoxins / genetics
  • Thioredoxins / physiology*
  • Thioredoxins / therapeutic use
  • Translational Research, Biomedical
  • Treatment Outcome

Substances

  • Eye Proteins
  • NXNL1 protein, human
  • RdCVF protein, mouse
  • RdCVF-2 protein, mouse
  • Thioredoxins