Cellular and Molecular Mechanisms of Pathogenesis Underlying Inherited Retinal Dystrophies

Biomolecules. 2023 Feb 1;13(2):271. doi: 10.3390/biom13020271.


Inherited retinal dystrophies (IRDs) are congenital retinal degenerative diseases that have various inheritance patterns, including dominant, recessive, X-linked, and mitochondrial. These diseases are most often the result of defects in rod and/or cone photoreceptor and retinal pigment epithelium function, development, or both. The genes associated with these diseases, when mutated, produce altered protein products that have downstream effects in pathways critical to vision, including phototransduction, the visual cycle, photoreceptor development, cellular respiration, and retinal homeostasis. The aim of this manuscript is to provide a comprehensive review of the underlying molecular mechanisms of pathogenesis of IRDs by delving into many of the genes associated with IRD development, their protein products, and the pathways interrupted by genetic mutation.

Keywords: cone-rod dystrophy; inherited retinal dystrophy; leber congenital amaurosis; molecular mechanisms of pathogenesis; retinitis pigmentosa; rod-cone dystrophy; stargardt’s disease.

Publication types

  • Review
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Humans
  • Mutation
  • Retina / metabolism
  • Retinal Cone Photoreceptor Cells
  • Retinal Dystrophies* / genetics
  • Retinal Dystrophies* / metabolism
  • Vision, Ocular

Grants and funding

This work was funded by a Research to Prevent Blindness (RPB) Challenge Grant to the Hamilton Eye Institute, as well as an RPB/International Retina Research Foundation Catalyst Award for Innovative Research Approaches to Age-related Macular Degeneration (M.M.J.) and a Knights Templar Eye Foundation Career-Starter Research Grant (T.J.H.).