Biology and therapy of inherited retinal degenerative disease: Insights from mouse models

Shobi Veleri, Csilla H. Lazar, Bo Chang, Paul A. Sieving, Eyal Banin, Anand Swaroop

Research output: Contribution to journalReview articlepeer-review

Abstract

Retinal neurodegeneration associated with the dysfunction or death of photoreceptors is a major cause of incurable vision loss. Tremendous progress has been made over the last two decades in discovering genes and genetic defects that lead to retinal diseases. The primary focus has now shifted to uncovering disease mechanisms and designing treatment strategies, especially inspired by the successful application of gene therapy in some forms of congenital blindness in humans. Both spontaneous and laboratory-generated mouse mutants have been valuable for providing fundamental insights into normal retinal development and for deciphering disease pathology. Here, we provide a review of mouse models of human retinal degeneration, with a primary focus on diseases affecting photoreceptor function. We also describe models associated with retinal pigment epithelium dysfunction or synaptic abnormalities. Furthermore, we highlight the crucial role of mouse models in elucidating retinal and photoreceptor biology in health and disease, and in the assessment of novel therapeutic modalities, including gene- and stem-cell-based therapies, for retinal degenerative diseases.

Original languageEnglish (US)
Pages (from-to)109-129
Number of pages21
JournalDMM Disease Models and Mechanisms
Volume8
Issue number2
DOIs
StatePublished - Feb 1 2015
Externally publishedYes

Keywords

  • Mouse mutants
  • Photoreceptor
  • Retinal development
  • Retinal disease

ASJC Scopus subject areas

  • Neuroscience (miscellaneous)
  • Medicine (miscellaneous)
  • Immunology and Microbiology (miscellaneous)
  • Biochemistry, Genetics and Molecular Biology(all)

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