ReviewClinical & experimental ophthalmology2025
Monogenic Retinal Diseases Associated With Genes Encoding Phototransduction Proteins: A Review.
Review in Clinical & experimental ophthalmology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed.
- Physiology and comparative transcriptomic analyses reveal the effects of food enrichment on the brain of yellow drum Nibea albiflora (Richardson, 1846).Fish physiology and biochemistry · 2026Article
- Integrated SNP and SV Analyses Reveal Genetic Mechanisms Underlying High-Altitude Adaptation in Goats.Animals : an open access journal from MDPI · 2026Article
- Modalities of vision restoration in optic neuropathies and retinal disease.Progress in retinal and eye research · 2026Review
- Visual acuities in patients with autosomal recessive retinitis pigmentosa associated with four rod phototransduction genes.Eye (London, England) · 2026Article
- Genetic Testing in Inherited Retinal Disease: Current Strategies and Future Directions.Journal of personalized medicine · 2026Review
- Ultra-High-Field MRI Morphometry of the Lateral Geniculate Nucleus in Patients with Advanced Visual Loss Due to Late-Stage Retinitis Pigmentosa.Brain sciences · 2026Article
- Cis-regulatory evolution reveals sensory trade-offs as a genetic basis for temporal niche evolution in tapirs.Science advances · 2026Article
- CASK hypomorph mice display cone photoreceptor dysfunction.bioRxiv : the preprint server for biology · 2026Article
- Identification of novel mutations in theInternational journal of ophthalmology · 2026Article
- Selective Impairment of Rod-Driven Vision in Vitamin A Deficiency: Insights From Examining the Effect of Desensitizing Backgrounds.Investigative ophthalmology & visual science · 2025Article
- RHO-Associated Retinitis Pigmentosa: Genetics, Phenotype, Natural History, Functional Assays, and Animal Model - In Preparation for Clinical Trials.Investigative ophthalmology & visual science · 2025Article
- The Genetic Puzzle of the Stress-Induced Cardiomyopathy (Takotsubo Syndrome): State of Art and Future Perspectives.Biomolecules · 2025Review
- Article
- Early-Onset Cone Photoreceptor Degeneration Is Associated With High Myopia inJournal of ophthalmology · 2025Article
Corrections and comments
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Authors and funding
2 authors.
Funding
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.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.