ReviewGenetics in medicine : official journal of the American College of Medical Genetics2015
Navigating the current landscape of clinical genetic testing for inherited retinal dystrophies.
Review in Genetics in medicine : official journal of the American College of Medical Genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers, 1 of them a synthesis that pooled it.
What it found
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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
38 citing papers in PubMed, 1 synthesis or guideline pooled it, 64 citations in OpenAlex.
- Pooled it
- Small Nucleic Acid Therapeutics for Ocular Diseases: Progress, Challenges, and Future Perspectives.Pharmaceutics · 2026Review
- Inherited retinal disorders in Scotland: A 5 year assessment.Eye (London, England) · 2026Article
- Review
- Investigating the frequency of unreported cases and laboratory correspondence practices for variants of uncertain significance in pediatric epilepsy.Epilepsia open · 2025Article
- Keep an Eye on Next Generation Sequencing (NGS) Technology: Secondary Findings and Differential Diagnosis in Inherited Retinal Dystrophies (IRDs).Biomedicines · 2025Review
- Screening of Inherited Retinal Disease Patients in a Low-Resource Setting Using an Augmented Next-Generation Sequencing Panel.Molecular genetics & genomic medicine · 2024Article
- Identification of Pathogenic Copy Number Variants in Mexican Patients With Inherited Retinal Dystrophies Applying an Exome Sequencing Data-Based Read-Depth Approach.Molecular genetics & genomic medicine · 2024Article
- Current management of inherited retinal degenerations in Portugal (IRD-PT survey).Scientific reports · 2024Article
- Screening copy number variations in 35 unsolved inherited retinal disease families.Human genetics · 2024Article
- The Landscape of Genomic Services for Inherited Retinal Degenerations (IRDs) Across Europe.Clinical ophthalmology (Auckland, N.Z.) · 2024Article
- Investigation of Structural Alterations in Inherited Retinal Diseases: A Quantitative SD-OCT-Analysis of Retinal Layer Thicknesses in Light of Underlying Genetic Mutations.International journal of molecular sciences · 2022Article
- Victorian evolution of inherited retinal diseases natural history registry (VENTURE study): Rationale, methodology and initial participant characteristics.Clinical & experimental ophthalmology · 2022Article
- Patient-Reported Health-Related Quality of Life in Individuals with Inherited Retinal Diseases.Ophthalmology science · 2022Article
- Genetic Testing of Inherited Retinal Disease in Australian Private Tertiary Ophthalmology Practice.Clinical ophthalmology (Auckland, N.Z.) · 2022Article
- Advancing precision medicines for ocular disorders: Diagnostic genomics to tailored therapies.Frontiers in medicine · 2022Review
- Genetic testing and diagnosis of inherited retinal diseases.Orphanet journal of rare diseases · 2021Review
- NGS and phenotypic ontology-based approaches increase the diagnostic yield in syndromic retinal diseases.Human genetics · 2021Article
- Pathogenic STX3 variants affecting the retinal and intestinal transcripts cause an early-onset severe retinal dystrophy in microvillus inclusion disease subjects.Human genetics · 2021Article
- Molecular genetics of inherited retinal degenerations in Icelandic patients.Clinical genetics · 2021Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Inherited eye disorders are a significant cause of vision loss. Genetic testing can be particularly helpful for patients with inherited retinal dystrophies because of genetic heterogeneity and overlapping phenotypes. The need to identify a molecular diagnosis for retinal dystrophies is particularly important in the era of developing novel gene therapy-based treatments, such as the RPE65 gene-based clinical trials and others on the horizon, as well as recent advances in reproductive options. The introduction of massively parallel sequencing technologies has significantly advanced the identification of novel gene candidates and has expanded the landscape of genetic testing. In a relatively short time clinical medicine has progressed from limited testing options to a plethora of choices ranging from single-gene testing to whole-exome sequencing. This article outlines currently available genetic testing and factors to consider when selecting appropriate testing for patients with inherited retinal dystrophies.
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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.