The multifaceted roles of retinoids in eye development, vision, and retinal degenerative diseases

Curr Top Dev Biol. 2025:161:235-296. doi: 10.1016/bs.ctdb.2024.10.003. Epub 2024 Oct 23.

Abstract

Vitamin A (all-trans-retinol; at-Rol) and its derivatives, known as retinoids, have been adopted by vertebrates to serve as visual chromophores and signaling molecules, particularly in the eye/retina. Few tissues rely on retinoids as heavily as the retina, and the study of genetically modified mouse models with deficiencies in specific retinoid-metabolizing proteins has allowed us to gain insight into the unique or redundant roles of these proteins in at-Rol uptake and storage, or their downstream roles in retinal development and function. These processes occur during embryogenesis and continue throughout life. This review delves into the role of these genes in supporting retinal function and maps the impact that genetically modified mouse models have had in studying retinoid-related genes. These models display distinct perturbations in retinoid biochemistry, physiology, and metabolic flux, mirroring human ocular diseases.

Keywords: Mouse transgenics; Retina; Retinoic acid; Retinoids; Visual cycle; Vitamin A.

Publication types

  • Review

MeSH terms

  • Animals
  • Disease Models, Animal
  • Eye* / embryology
  • Eye* / growth & development
  • Eye* / metabolism
  • Humans
  • Mice
  • Retina* / embryology
  • Retina* / metabolism
  • Retinal Degeneration* / metabolism
  • Retinoids* / metabolism
  • Vision, Ocular* / physiology
  • Vitamin A / metabolism

Substances

  • Retinoids
  • Vitamin A