ReviewTherapeutic advances in ophthalmology
Practical guide to genetic screening for inherited eye diseases.
Review in Therapeutic advances in ophthalmology. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers, 1 of them a synthesis 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
32 citing papers in PubMed, 1 synthesis or guideline pooled it, 43 citations in OpenAlex.
- Portuguese Society of Ophthalmology and Portuguese Society of Human Genetics Joint Clinical Practice Guidelines for Genetic Testing in Inherited Retinal Dystrophies.Clinical genetics · 2025Guideline
- Clinical and Population-Specific Insights Into Inherited Retinal Dystrophies From Whole-Exome Sequencing of the Polish Cohort.Investigative ophthalmology & visual science · 2026Article
- Review
- Novel Genotype-Phenotype Correlations inOphthalmology science · 2026Article
- Using Steady-State Visual Evoked Potentials to Characterize Wide-Ranging Retinopathy Linked toComputational and structural biotechnology journal · 2026Article
- Review
- Next-Generation Sequencing in Congenital Eye Malformations: Identification of Genetic Causes and Comparison of Different Panel-Based Diagnostic Strategies.International journal of molecular sciences · 2025Article
- A Practical Guide to Genetic Eye Conditions for Paediatricians.Journal of paediatrics and child health · 2025Review
- Keep an Eye on Next Generation Sequencing (NGS) Technology: Secondary Findings and Differential Diagnosis in Inherited Retinal Dystrophies (IRDs).Biomedicines · 2025Review
- Next-generation phenotyping of inherited retinal diseases from multimodal imaging with Eye2Gene.Nature machine intelligence · 2025Article
- Prevention and early intervention screening for inherited ocular diseases in Saudi Arabia: a national perspective.Frontiers in ophthalmology · 2025Review
- The importance of genetic counselling and testing in inherited eye diseases: A population-based retrospective study.PloS one · 2025Article
- Incidental finding of aBMJ case reports · 2024Article
- Clinical and genetic characterization of patients with eye diseases included in the Spanish Rare Diseases Patient Registry.Orphanet journal of rare diseases · 2024Article
- Patient experiences and perceived value of genetic testing in inherited retinal diseases: a cross-sectional survey.Scientific reports · 2024Article
- Longitudinal Changes of Retinal Structure in Molecularly Confirmed C1QTNF5 Patients With Late-Onset Retinal Degeneration.Translational vision science & technology · 2023Article
- Foveal Hypoplasia inInternational journal of molecular sciences · 2023Article
- Nigerian parents' perspectives on genetic testing in their children with genetic eye diseases.Journal of community genetics · 2023Article
- Retinal organoids provide unique insights into molecular signatures of inherited retinal disease throughout retinogenesis.Journal of anatomy · 2023Review
- How to Set Up Genetic Counselling for Inherited Macular Dystrophies: Focus on Genetic Characterization.International journal of molecular sciences · 2023Review
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 3 institutions in 1 country.
Funding
Abstract
Genetic eye diseases affect around one in 1000 people worldwide for which the molecular aetiology remains unknown in the majority. The identification of disease-causing gene variant(s) allows a better understanding of the disorder and its inheritance. There is now an approved retinal gene therapy for autosomal recessive
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.