ArticleJournal of ophthalmology2019
Prediction of Causative Genes in Inherited Retinal Disorders from Spectral-Domain Optical Coherence Tomography Utilizing Deep Learning Techniques.
Article in Journal of ophthalmology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers, 3 of them syntheses 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
27 citing papers in PubMed, 3 syntheses or guidelines pooled it, 51 citations in OpenAlex.
- Vitreoretinal disease detection using artificial intelligence: a systematic review and meta-analysis.International ophthalmology · 2026Pooled it
- Diagnostic Accuracy of AI Models in Detecting Different Inherited Retinal Diseases: A Systematic Review and Meta-Analysis.Translational vision science & technology · 2025Pooled it
- A Systematic Review of Artificial Intelligence Applications Used for Inherited Retinal Disease Management.Medicina (Kaunas, Lithuania) · 2022Pooled it
- AI-based clinician decision support system for diagnosis of inherited retinal diseases: a multicenter, randomized trial.Nature medicine · 2026Trial
- Artificial intelligence applications in inherited retinal dystrophies.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2026Review
- A self-supervised learning method for detection of retinitis pigmentosa and Stargardt disease.Scientific reports · 2025Article
- The Role of Artificial Intelligence in Imaging-Based Diagnosis of Retinal Dystrophy and Evaluation of Gene Therapy Efficacy.Journal of personalized medicine · 2025Review
- AI-Assisted Optical Coherence Tomography Segmentation for Enhanced Diagnosis of Inherited Retinal Diseases.Translational vision science & technology · 2025Article
- Perspectives on the Current and Future State of Artificial Intelligence in Medical Genetics.American journal of medical genetics. Part A · 2025Review
- Next-generation phenotyping of inherited retinal diseases from multimodal imaging with Eye2Gene.Nature machine intelligence · 2025Article
- Advances and prospects of multi-modal ophthalmic artificial intelligence based on deep learning: a review.Eye and vision (London, England) · 2024Review
- Article
- Distinct Clinical Effects of Two RP1L1 Hotspots in East Asian Patients With Occult Macular Dystrophy (Miyake Disease): EAOMD Report 4.Investigative ophthalmology & visual science · 2024Article
- Artificial intelligence in retinal disease: clinical application, challenges, and future directions.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2023Review
- Prediction of visual impairment in retinitis pigmentosa using deep learning and multimodal fundus images.The British journal of ophthalmology · 2023Article
- Article
- Safety always: the challenges of cloud computing in medical practice and ophthalmology.Eye (London, England) · 2023Article
- SynthEye: Investigating the Impact of Synthetic Data on Artificial Intelligence-assisted Gene Diagnosis of Inherited Retinal Disease.Ophthalmology science · 2023Article
- Deep Learning to DistinguishJournal of clinical medicine · 2021Article
- Structural evaluation in inherited retinal diseases.The British journal of ophthalmology · 2021Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
9 authors at 3 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeTo illustrate a data-driven deep learning approach to predicting the gene responsible for the inherited retinal disorder (IRD) in macular dystrophy caused by
methodsSeventy-five subjects with IRD or no ocular diseases have been ascertained from the database of Japan Eye Genetics Consortium; 10
resultsA total of 178 images from 75 subjects were included in this study. The mean training accuracy was 98.5%, ranging from 90.6 to 100.0. The mean overall test accuracy was 90.9% (82.0-97.6). The mean test accuracy per gene category was 100% for
conclusionThis study highlighted a novel application of deep neural networks in the prediction of the causative gene in IRD retinopathies from SD-OCT, with a high prediction accuracy. It is anticipated that deep neural networks will be integrated into general screening to support clinical/genetic diagnosis, as well as enrich the clinical education.
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.