2. Academic Validation
  3. Monogenic Retinal Diseases Associated With Genes Encoding Phototransduction Proteins: A Review

Monogenic Retinal Diseases Associated With Genes Encoding Phototransduction Proteins: A Review

  • Clin Exp Ophthalmol. 2025 Apr;53(3):260-280. doi: 10.1111/ceo.14511.
Wendy M Wong 1 2 3 4,  Omar A Mahroo 1 2 5 6 7
Affiliations

Affiliations

  • 1 Institute of Ophthalmology, University College London, London, UK.
  • 2 NIHR Biomedical Research Centre at Moorfields Eye Hospital and the UCL Institute of Ophthalmology, London, UK.
  • 3 Centre for Innovation & Precision Eye Health, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore.
  • 4 Department of Ophthalmology, National University Hospital, National University Health System, Singapore, Singapore.
  • 5 Section of Ophthalmology, King's College London, St Thomas' Hospital Campus, London, UK.
  • 6 Physiology, Development and Neuroscience, University of Cambridge, Cambridge, UK.
  • 7 Department of Translational Ophthalmology, Wills Eye Hospital, Philadelphia, Pennsylvania, USA.
PMID: 40013354 DOI: 10.1111/ceo.14511
Abstract

Phototransduction, the process by which captured photons elicit electrical changes in retinal rod and cone cells, represents the first neuronal step in vision and involves interactions between several highly specialised proteins. Pathogenic variants in genes encoding many of these proteins can give rise to significant vision impairment, accounting for a substantial portion of inherited retinal disease. Such genes include RHO, OPN1LW, OPN1MW, GNAT1, GNAT2, GNB3, PDE6A, PDE6B, PDE6G, PDE6C, PDE6H, CNGA1, CNGB1, CNGA3, CNGB3, GRK1, SAG, ARR3, RGS9, RGS9BP, GUCY2D, GUCA1A and SLC24A1. Many of these conditions have distinct mechanisms and clinical features. They follow several modes of inheritance (including in one case digenic, or tri-allelic, inheritance). Some conditions also entail myopia. Rod and cone phototransduction will be outlined, followed by the discussion of diseases associated with these genes. Some phenotypic features will be highlighted as well as their prevalence in a large genotyped inherited retinal disease cohort.

Keywords

cone photoreceptors; inherited retinal disease; phototransduction; retina; rod photoreceptors.

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