ReviewAsia-Pacific journal of ophthalmology (Philadelphia, Pa.)
Retinal Dystrophies and the Road to Treatment: Clinical Requirements and Considerations.
Review in Asia-Pacific journal of ophthalmology (Philadelphia, Pa.). The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers, 1 of them a synthesis that pooled it.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
25 citing papers in PubMed, 1 synthesis or guideline pooled it.
- A Systematic Review and Meta-Analyses of Interventional Clinical Trial Studies for Gene Therapies for the Inherited Retinal Degenerations (IRDs).Biomolecules · 2021Pooled it
- Novel Genotype-Phenotype Correlations inOphthalmology science · 2026Article
- Test-retest variability of the full-field stimulus test in patients with retinitis pigmentosa: REPEAT Study Report No. 4.Acta ophthalmologica · 2026Article
- Addressing clinical uncertainties in ATMP reimbursement: a review of methodological guidelines and European practice.Frontiers in pharmacology · 2026Review
- Atypical Retinitis Pigmentosa With Macular Sparing in a Patient With Compound HeterozygousClinical case reports · 2026Article
- Relationship between the full-field stimulus test and self-reported visual function in patients with retinitis pigmentosa: REPEAT Study report No. 3.Acta ophthalmologica · 2025Article
- Evolution of Light-Sensitive Proteins in Optogenetic Approaches for Vision Restoration: A Comprehensive Review.Biomedicines · 2025Review
- Key challenges in developing a gene therapy for Usher syndrome: machine-assisted scoping review.Journal of community genetics · 2024Article
- Inherited retinal dystrophies and orphan designations in the European Union.European journal of ophthalmology · 2024Review
- A cohort study of 19 patients with gyrate atrophy of the choroid and retina (GACR).Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2024Article
- Somatostatin analogues as a treatment option for cystoid maculopathy in retinitis pigmentosa.BMJ open ophthalmology · 2024Article
- Frequency and Genetic Spectrum of Inherited Retinal Dystrophies in a Large Dutch Pediatric Cohort: The RD5000 Consortium.Investigative ophthalmology & visual science · 2024Article
- Clinical and genetic characterization of patients with eye diseases included in the Spanish Rare Diseases Patient Registry.Orphanet journal of rare diseases · 2024Article
- Human CRB1 and CRB2 form homo- and heteromeric protein complexes in the retina.Life science alliance · 2024Article
- Spectrum of variants associated with inherited retinal dystrophies in Northeast Mexico.BMC ophthalmology · 2024Article
- Article
- Inherited retinal disorders: a genotype-phenotype correlation in an Indian cohort and the importance of genetic testing and genetic counselling.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2023Article
- Genetic and Clinical Profile of Retinopathies Due to Disease-Causing Variants in Leber Congenital Amaurosis (LCA)-Associated Genes in a Large German Cohort.International journal of molecular sciences · 2023Article
- Transcorneal Electrical Stimulation Dose-Dependently Slows the Visual Field Loss in Retinitis Pigmentosa.Translational vision science & technology · 2023Article
- Clinical and Therapeutic Evaluation of the Ten Most PrevalentBiomedicines · 2023Article
Corrections and comments
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Authors and funding
2 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
: Retinal dystrophies (RDs) comprise relatively rare but devastating causes of progressive vision loss. They represent a spectrum of diseases with marked genetic and clinical heterogeneity. Mutations in the same gene may lead to different diagnoses, for example, retinitis pigmentosa or cone dystrophy. Conversely, mutations in different genes may lead to the same phenotype. The age at symptom onset, and the rate and characteristics of peripheral and central vision decline, may vary widely per disease group and even within families. For most RD cases, no effective treatment is currently available. However, preclinical studies and phase I/II/III gene therapy trials are ongoing for several RD subtypes, and recently the first retinal gene therapy has been approved by the US Food and Drug Administration for RPE65-associated RDs: voretigene neparvovec-rzyl (Luxturna). With the rapid advances in gene therapy studies, insight into the phenotypic spectrum and long-term disease course is crucial information for several RD types. The vast clinical heterogeneity presents another important challenge in the evaluation of potential efficacy in future treatment trials, and in establishing treatment candidacy criteria. This perspective describes these challenges, providing detailed clinical descriptions of several forms of RD that are caused by genes of interest for ongoing and future gene or cell-based therapy trials. Several ongoing and future treatment options will be described.
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