ReviewOrphanet journal of rare diseases2021
Genetic testing and diagnosis of inherited retinal diseases.
Review in Orphanet journal of rare diseases, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 49 papers, 3 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
49 citing papers in PubMed, 3 syntheses or guidelines pooled it, 70 citations in OpenAlex.
- Pooled it
- Diagnostic Accuracy of AI Models in Detecting Different Inherited Retinal Diseases: A Systematic Review and Meta-Analysis.Translational vision science & technology · 2025Pooled it
- Portuguese Society of Ophthalmology and Portuguese Society of Human Genetics Joint Clinical Practice Guidelines for Genetic Testing in Inherited Retinal Dystrophies.Clinical genetics · 2025Guideline
- A national cross-sectional study of patients with inherited retinal disease in China.Scientific reports · 2026Article
- Clinical and genetic spectrum of genetic eye diseases seen in two newly developed ophthalmic genetics clinics: two-year experience.Documenta ophthalmologica. Advances in ophthalmology · 2026Article
- Visualising treatment effects in low-vision settings: proven and potential endpoints for clinical trials of inherited retinal disease therapies.Gene therapy · 2026Review
- Knowledge, attitudes, and practices among guardians toward inherited retinal diseases: a structural equation modeling analysis.Scientific reports · 2026Article
- Deep learning detection of retinitis pigmentosa inheritance forms through synthetic data expansion of a rare disease dataset.Scientific reports · 2026Article
- X-Linked Retinitis Pigmentosa (XLRP): An Investigation of the Impact of XLRP on Health-Related Quality of Life of Carers in Great Britain.Advances in therapy · 2026Article
- [Clinical and genetic aspects of inherited retinal dystrophies : Phenotypic and molecular characterization of 1000 IRD patients in a German tertiary referral center].Die Ophthalmologie · 2026Article
- Real-World Comparison of Overall Survival Among Patients With and Without Inherited Retinal Diseases.Vision (Basel, Switzerland) · 2026Article
- Enhancing Molecular Diagnostic Accuracy in Genetic Eye Disorders Through a Personalized Re-Evaluation Strategy.Investigative ophthalmology & visual science · 2026Article
- Using deep learning to identify inherited retinal diseases based on wide-field retinal imaging data.PloS one · 2026Article
- Deep Learning Detection of Retinitis Pigmentosa Inheritance Forms through Synthetic Data Expansion of a Rare Disease Dataset.Research square · 2025Article
- Review
- A Practical Guide to Genetic Eye Conditions for Paediatricians.Journal of paediatrics and child health · 2025Review
- Multidimensional Quantification of Macular Cone Activity in Pattern Electroretinography Using Discrete Wavelet Transform.Translational vision science & technology · 2025Article
- Genetic Counselor Integration Improves Genetic Eye Disease Diagnostics.Ophthalmology. Retina · 2025Article
- The effect of enhancers on the lentiviral transduction efficiency in the human RPE cells: Insights for advancing retinal gene therapies.Biochemistry and biophysics reports · 2025Article
- State of the Art on Inherited Retinal Dystrophies: Management and Molecular Genetics.Journal of clinical medicine · 2025Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 4 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Inherited retinal diseases (IRDs) are a diverse group of degenerative diseases of the retina that can lead to significant reduction in vision and blindness. Because of the considerable phenotypic overlap among IRDs, genetic testing is a critical step in obtaining a definitive diagnosis for affected individuals and enabling access to emerging gene therapy-based treatments and ongoing clinical studies. While advances in molecular diagnostic technologies have significantly improved the understanding of IRDs and identification of disease-causing variants, training in genetic diagnostics among ophthalmologists is limited. In this review, we will provide ophthalmologists with an overview of genetic testing for IRDs, including the types of available testing, variant interpretation, and genetic counseling. Additionally, we will discuss the clinical applications of genetic testing in the molecular diagnosis of IRDs through case studies.
Indexed as
Identifiers
What OpenQuestion holds
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.