Definition and research guide
This page combines a MeSH definition, publication statistics and selected research abstracts. It is a starting point for reading the literature, not a medical textbook or a systematic evidence review.
Content available: 4 complete abstracts (716 words), 10 references. Full article text is not stored or reproduced here; follow the PMID, DOI or PMC links to read the original sources and their access terms.
Definition
A group of disorders involving predominantly the posterior portion of the ocular fundus, due to degeneration in the sensory layer of the retina; retinal pigment epithelium; bruch membrane; choroid; or a combination of these tissues.
Definition: NLM Medical Subject Headings (MeSH) scope note (Public domain (U.S. National Library of Medicine); attribution requested). View the MeSH record.
Also known as: Dystrophies, Retinal; Dystrophy, Retinal; Retinal Dystrophy.
Where it fits in the MeSH classification
- Broader topics
- Retinal Degeneration
- Narrower topics
- Cone-Rod Dystrophies; Retinitis Pigmentosa
Related concepts
- Retina
- Retinal Pigment Epithelium
- Bruch Membrane
- Choroid
Research landscape
PubMed indexes 11,898 records tagged with the MeSH heading “Retinal Dystrophies” (counts retrieved 2026-11-04). 2,806 of them (23.6%) were published from 2020 onward, and the busiest period so far is through 1999 with 4,007 records.
Reviews account for 1,162 records (9.8%) and meta-analyses for 29. Randomized controlled trials number 72 (0.6%) as a share of all records on the topic. Randomized trials make up only a small share of this literature, so much of what is known comes from laboratory, observational or descriptive work.
Show the data
| Period | Records |
|---|---|
| through 1999 | 4,007 |
| 2000-2009 | 1,769 |
| 2010-2019 | 3,316 |
| 2020 onward | 2,806 |
Publication-type chart data
| Type | Records | Share |
|---|---|---|
| Reviews | 1,162 | 9.8% |
| Meta-analyses | 29 | 0.2% |
| Randomized controlled trials | 72 | 0.6% |
Method: PubMed query "Retinal Dystrophies"[MeSH Terms] with publication-type and date filters, retrieved 2026-11-04.
Reading the evidence in eye, ear, nose and throat
Eye, hearing, nose and throat studies rely on specialist tests (visual acuity, eye pressure, audiograms, scopes) and on patient-reported symptoms, which vary between people and with age. Some conditions improve without treatment, so comparison groups matter. Nothing on this page is advice about diagnosis or treatment; sudden loss of sight or hearing needs urgent care from a qualified clinician. Check how the outcome was tested, the age of the people studied and how long they were followed.
Evidence from open-access studies
These open-access studies come from PubMed’s best-match results for this heading (papers whose main topic it is), ranked here by citation count, with one recent addition. Each abstract is reproduced in full under its recorded open licence so that you can read the authors’ own words. They illustrate the literature; they are not a systematic summary of it. Citation counts measure attention, not reliability or clinical benefit.
| Study / authors | Year | Source label / design | Europe PMC citations | Licence / source |
|---|---|---|---|---|
| PCDH15 dual-AAV gene therapy for deafness and blindness in Usher syndrome type 1F models | 2024 | Research article Design not recorded in structured metadata | 23 | cc by PMID 39441757 · DOI · PMC11601915 |
| In vivo photoreceptor base editing ameliorates rhodopsin-E150K autosomal-recessive retinitis pigmentosa in mice | 2024 | Research article Design not recorded in structured metadata | 22 | cc by PMID 39556729 · DOI · PMC11621631 |
| Phototoxicity avoidance is a potential therapeutic approach for retinal dystrophy caused by EYS dysfunction | 2024 | Research article Design not recorded in structured metadata | 19 | cc by PMID 38646933 · DOI · PMC11141876 |
| A congenic C57BL/6J rd1 mouse model for retinal degeneration research | 2026 | Research article Design not recorded in structured metadata | 2 | cc by PMID 41380951 · DOI · PMC13016136 |
PCDH15 dual-AAV gene therapy for deafness and blindness in Usher syndrome type 1F models [1]
Abstract reading summary — source excerpts
- Opening excerpt
- Usher syndrome type 1F (USH1F), resulting from mutations in the protocadherin-15 (PCDH15) gene, is characterized by congenital lack of hearing and balance, and progressive blindness in the form of retinitis pigmentosa.
- Closing excerpt
- This research represents a major step toward advancing gene therapy for USH1F and the multiple challenges of hearing, balance, and vision impairment.
- Interpretation limits
- Verbatim excerpts from the authors’ abstract; the closing excerpt may describe a finding, limitation or recommendation. Design, population, effect size and uncertainty have not been independently extracted or appraised. Read the complete abstract and linked paper before interpreting the findings.
Read complete abstract (139 words)
Usher syndrome type 1F (USH1F), resulting from mutations in the protocadherin-15 (PCDH15) gene, is characterized by congenital lack of hearing and balance, and progressive blindness in the form of retinitis pigmentosa. In this study, we explore an approach for USH1F gene therapy, exceeding the single AAV packaging limit by employing a dual-adeno-associated virus (dual-AAV) strategy to deliver the full-length PCDH15 coding sequence. We demonstrate the efficacy of this strategy in mouse USH1F models, effectively restoring hearing and balance in these mice. Importantly, our approach also proves successful in expressing PCDH15 protein in clinically relevant retinal models, including human retinal organoids and nonhuman primate retina, showing efficient targeting of photoreceptors and proper protein expression in the calyceal processes. This research represents a major step toward advancing gene therapy for USH1F and the multiple challenges of hearing, balance, and vision impairment.
Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 39441757 · DOI · PMC11601915
In vivo photoreceptor base editing ameliorates rhodopsin-E150K autosomal-recessive retinitis pigmentosa in mice [2]
Abstract reading summary — source excerpts
- Opening excerpt
- Rhodopsin, the prototypical class-A G-protein coupled receptor, is a highly sensitive receptor for light that enables phototransduction in rod photoreceptors.
- Closing excerpt
- These findings demonstrate that in vivo base editing can restore the function of mutated structural and functional proteins in animal models of disease, including rhodopsin-associated RP and suggest that the timing of gene-editing is a crucial determinant of successful treatment outcomes for degenerative genetic diseases.
- Interpretation limits
- Verbatim excerpts from the authors’ abstract; the closing excerpt may describe a finding, limitation or recommendation. Design, population, effect size and uncertainty have not been independently extracted or appraised. Read the complete abstract and linked paper before interpreting the findings.
Read complete abstract (238 words)
Rhodopsin, the prototypical class-A G-protein coupled receptor, is a highly sensitive receptor for light that enables phototransduction in rod photoreceptors. Rhodopsin plays not only a sensory role but also a structural role as a major component of the rod outer segment disc, comprising over 90% of the protein content of the disc membrane. Mutations in RHO which lead to structural or functional abnormalities, including the autosomal recessive E150K mutation, result in rod dysfunction and death. Therefore, correction of deleterious rhodopsin mutations could rescue inherited retinal degeneration, as demonstrated for other visual genes such as RPE65 and PDE6B. In this study, we describe a CRISPR/Cas9 adenine base editing strategy to correct the E150K mutation and demonstrate precise in vivo editing in a Rho-E150K mouse model of autosomal recessive retinitis pigmentosa (RP). Using ultraviolet-visible spectroscopy, mass spectrometry, and the G-protein activation assay, we characterized wild-type rhodopsin and rhodopsin variants containing bystander base edits. Subretinal injection of dual-adeno-associated viruses delivering our base editing strategy yielded up to 44% Rho correction in homozygous Rho-E150K mice. Injection at postnatal day 15, but not later time points, restored rhodopsin expression, partially rescued retinal function, and partially preserved retinal structure. These findings demonstrate that in vivo base editing can restore the function of mutated structural and functional proteins in animal models of disease, including rhodopsin-associated RP and suggest that the timing of gene-editing is a crucial determinant of successful treatment outcomes for degenerative genetic diseases.
Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 39556729 · DOI · PMC11621631
Phototoxicity avoidance is a potential therapeutic approach for retinal dystrophy caused by EYS dysfunction [3]
Abstract reading summary — source excerpts
- Opening excerpt
- Inherited retinal dystrophies (IRDs) are progressive diseases leading to vision loss.
- Closing excerpt
- These findings suggest that avoiding phototoxicity would be a potential therapeutic approach for EYS-RD.
- Interpretation limits
- Verbatim excerpts from the authors’ abstract; the closing excerpt may describe a finding, limitation or recommendation. Design, population, effect size and uncertainty have not been independently extracted or appraised. Read the complete abstract and linked paper before interpreting the findings.
Read complete abstract (146 words)
Inherited retinal dystrophies (IRDs) are progressive diseases leading to vision loss. Mutation in the eyes shut homolog (EYS) gene is one of the most frequent causes of IRD. However, the mechanism of photoreceptor cell degeneration by mutant EYS has not been fully elucidated. Here, we generated retinal organoids from induced pluripotent stem cells (iPSCs) derived from patients with EYS-associated retinal dystrophy (EYS-RD). In photoreceptor cells of RD organoids, both EYS and G protein-coupled receptor kinase 7 (GRK7), one of the proteins handling phototoxicity, were not in the outer segment, where they are physiologically present. Furthermore, photoreceptor cells in RD organoids were vulnerable to light stimuli, and especially to blue light. Mislocalization of GRK7, which was also observed in eys-knockout zebrafish, was reversed by delivering control EYS into photoreceptor cells of RD organoids. These findings suggest that avoiding phototoxicity would be a potential therapeutic approach for EYS-RD.
Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 38646933 · DOI · PMC11141876
A congenic C57BL/6J rd1 mouse model for retinal degeneration research [4]
Abstract reading summary — source excerpts
- Opening excerpt
- Retinitis pigmentosa is an inherited retinal disease caused by thousands of mutations in over 100 different genes.
- Closing excerpt
- Pde6brd1 strain could become an asset for the field of retinitis pigmentosa research.
- Interpretation limits
- Verbatim excerpts from the authors’ abstract; the closing excerpt may describe a finding, limitation or recommendation. Design, population, effect size and uncertainty have not been independently extracted or appraised. Read the complete abstract and linked paper before interpreting the findings.
Read complete abstract (193 words)
Retinitis pigmentosa is an inherited retinal disease caused by thousands of mutations in over 100 different genes. The most widely used mouse model for retinitis pigmentosa has the retinal degeneration 1 (rd1) mutation in the Pde6b gene, which elicits rapid retinal degeneration and vision loss. A major limitation of these models is that these rd1 strains are not congenic, which prevents the use of appropriate controls. Furthermore, many strains have mutations in other genes which introduces genetic variability and may confound results. To address this issue, we backcrossed the rd1 allele from FVB mice onto a C57BL/6J genetic background over many generations, producing a C57BL/6J.Pde6brd1 strain that was confirmed to be congenic to C57BL/6J mice. We show that this strain recapitulates the electroretinogram and optomotor results expected for mouse strains containing the rd1 mutation. Examination of retinal structure in cross sections of eyes isolated from C57BL/6J.Pde6brd1 mice show a degree of thinning of the outer nuclear layer expected for a rd1 mutation, resulting in nearly complete loss of the outer nuclear layer by postnatal day 35. We anticipate that this C57BL/6J.Pde6brd1 strain could become an asset for the field of retinitis pigmentosa research.
Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 41380951 · DOI · PMC13016136
Key reviews and meta-analyses
The most cited review-type papers among PubMed’s best-match results for this heading, listed with bibliographic details only. Follow the links for the full text and access terms.
- Research article Non-syndromic retinitis pigmentosa [5]
- Research article Expert consensus document: Mitochondrial function as a therapeutic target in heart failure [6]
- Research article Mitochondrial dysfunction in inherited renal disease and acute kidney injury [7]
- Research article Inherited retinal diseases: Linking genes, disease-causing variants, and relevant therapeutic modalities [8]
- Research article Mechanisms of Photoreceptor Death in Retinitis Pigmentosa [9]
- Research article A review of the mechanisms of cone degeneration in retinitis pigmentosa [10]
References
- Ivanchenko MV, Hathaway DM, Mulhall EM, Booth KT, Wang M, Peters CW, et al.. PCDH15 dual-AAV gene therapy for deafness and blindness in Usher syndrome type 1F models. . 2024. PMID 39441757 · DOI · PMC11601915
- Du SW, Newby GA, Salom D, Gao F, Menezes CR, Suh S, et al.. In vivo photoreceptor base editing ameliorates rhodopsin-E150K autosomal-recessive retinitis pigmentosa in mice. . 2024. PMID 39556729 · DOI · PMC11621631
- Otsuka Y, Imamura K, Oishi A, Asakawa K, Kondo T, Nakai R, et al.. Phototoxicity avoidance is a potential therapeutic approach for retinal dystrophy caused by EYS dysfunction. . 2024. PMID 38646933 · DOI · PMC11141876
- Chandler LC, Gardner A, Cepko CL. A congenic C57BL/6J rd1 mouse model for retinal degeneration research. . 2026. PMID 41380951 · DOI · PMC13016136
- Verbakel SK, van Huet RAC, Boon CJF, den Hollander AI, Collin RWJ, Klaver CCW, et al.. Non-syndromic retinitis pigmentosa. Prog Retin Eye Res. 2018. PMID 29597005 · DOI
- Brown DA, Perry JB, Allen ME, Sabbah HN, Stauffer BL, Shaikh SR, et al.. Expert consensus document: Mitochondrial function as a therapeutic target in heart failure. Nat Rev Cardiol. 2017. PMID 28004807 · DOI · PMC5350035
- Emma F, Montini G, Parikh SM, Salviati L. Mitochondrial dysfunction in inherited renal disease and acute kidney injury. Nat Rev Nephrol. 2016. PMID 26804019 · DOI · PMC5469549
- Schneider N, Sundaresan Y, Gopalakrishnan P, Beryozkin A, Hanany M, Levanon EY, et al.. Inherited retinal diseases: Linking genes, disease-causing variants, and relevant therapeutic modalities. Prog Retin Eye Res. 2022. PMID 34839010 · DOI
- Newton F, Megaw R. Mechanisms of Photoreceptor Death in Retinitis Pigmentosa. Genes (Basel). 2020. PMID 32987769 · DOI · PMC7598671
- Narayan DS, Wood JP, Chidlow G, Casson RJ. A review of the mechanisms of cone degeneration in retinitis pigmentosa. Acta Ophthalmol. 2016. PMID 27350263 · DOI
About this article
- Sources
- NLM Medical Subject Headings (definition, synonyms); NCBI PubMed (counts, identifiers); Europe PMC (open-access abstracts and citation counts).
- Verification
- Every reference was resolved against PubMed on 2026-11-04; title, year and DOI matched.
- Review state
- automated source verified; no human expert review has been recorded yet.
- Version
- 1, last updated 2026-11-04.
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Evidence strength
EvidenceHelix's computed view of the study designs behind this topic: how common meta-analyses, randomized trials and reviews are, how recent the literature is, and a plain-language reading. It describes the design mix of the literature. It is not a quality appraisal of any study, and it is not medical advice.