Evidence map›Paper›PMID 40630585›Full record

ArticlemedRxiv : the preprint server for health sciences2025

Quantification of Optical Coherence Tomography Features in >3500 Patients with Inherited Retinal Disease Reveals Novel Genotype-Phenotype Associations.

William Woof, Thales A C de Guimarães, Saoud Al-Khuzaei, Malena Daich Varela, Mital Shah, Gunjan Naik, Sagnik Sen, Pallavi Bagga, Bernardo Mendes, Yiu Wai Chan and 27 more

Abstract readPreprint
PubMed Full text at PMC Publisher
In one paragraph

Article in medRxiv : the preprint server for health sciences, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from 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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

37 authors.

William WoofInstitute of Ophthalmology, University College London, 11-43 Bath Street, London, UK.ORCID 0000-0001-7555-329X
Thales A C de GuimarãesInstitute of Ophthalmology, University College London, 11-43 Bath Street, London, UK.ORCID 0000-0002-7936-6851
Saoud Al-KhuzaeiOxford Eye Hospital, John Radcliffe Hospital, Oxford OX3 9DU, UK.ORCID 0000-0002-2779-3202
Malena Daich VarelaInstitute of Ophthalmology, University College London, 11-43 Bath Street, London, UK.ORCID 0000-0003-4960-4510
Mital ShahInstitute of Ophthalmology, University College London, 11-43 Bath Street, London, UK.ORCID 0000-0001-7496-6121
Gunjan NaikInstitute of Ophthalmology, University College London, 11-43 Bath Street, London, UK.ORCID 0000-0003-1296-1362
Sagnik SenGenetics, Moorfields Eye Hospital NHS Foundation Trust, 162 City Road, London EC1V 2PD, UK.ORCID 0000-0001-5835-5371
Pallavi BaggaInstitute of Ophthalmology, University College London, 11-43 Bath Street, London, UK.ORCID 0000-0001-5226-1948
Bernardo MendesInstitute of Ophthalmology, University College London, 11-43 Bath Street, London, UK.ORCID 0009-0002-0416-6852
Yiu Wai ChanInstitute of Ophthalmology, University College London, 11-43 Bath Street, London, UK.ORCID 0009-0004-4911-4233
Siying LinInstitute of Ophthalmology, University College London, 11-43 Bath Street, London, UK.ORCID 0000-0003-1122-8396
Biraja GhoshalInstitute of Ophthalmology, University College London, 11-43 Bath Street, London, UK.ORCID 0000-0001-5456-2197
Bart LiefersInstitute of Ophthalmology, University College London, 11-43 Bath Street, London, UK.ORCID 0000-0002-2763-6426
Dun Jack FuInstitute of Ophthalmology, University College London, 11-43 Bath Street, London, UK.ORCID 0000-0003-2852-6912
Michalis GeorgiouInstitute of Ophthalmology, University College London, 11-43 Bath Street, London, UK.ORCID 0000-0001-6397-8071
Alan Sousa da SilvaInstitute of Ophthalmology, University College London, 11-43 Bath Street, London, UK.ORCID 0000-0003-1250-943X
Quang NguyenInstitute of Ophthalmology, University College London, 11-43 Bath Street, London, UK.ORCID 0000-0003-2665-3125
Yichen LiuInstitute of Ophthalmology, University College London, 11-43 Bath Street, London, UK.ORCID 0000-0002-9563-9151
Dayyanah SumodheeInstitute of Ophthalmology, University College London, 11-43 Bath Street, London, UK.ORCID 0000-0001-7274-6088
Yu Fujinami-YokokawaInstitute of Ophthalmology, University College London, 11-43 Bath Street, London, UK.ORCID 0000-0001-7555-5797
Praveen J PatelInstitute of Ophthalmology, University College London, 11-43 Bath Street, London, UK.ORCID 0000-0001-8682-4067
Jennifer FurmanInstitute of Ophthalmology, University College London, 11-43 Bath Street, London, UK.
Ismail MoghulInstitute of Ophthalmology, University College London, 11-43 Bath Street, London, UK.ORCID 0000-0003-3653-2327
Mariya MoosajeeInstitute of Ophthalmology, University College London, 11-43 Bath Street, London, UK.ORCID 0000-0003-1688-5360
Juliana SallumDepartment of Ophthalmology and Visual Sciences, Escola Paulista de Medicina, Federal University of Sao Paulo.ORCID 0000-0002-7206-4447
Samantha R De SilvaOxford Eye Hospital, John Radcliffe Hospital, Oxford OX3 9DU, UK.ORCID 0000-0002-4455-2814
Birgit LorenzTransmit Centre of Translational Ophthalmology, Justus-Liebig-University Giessen, Germany.ORCID 0000-0002-9737-8127
Philipp HerrmannDepartment of Ophthalmology, University of Bonn, Germany.
Frank G HolzTransmit Centre of Translational Ophthalmology, Justus-Liebig-University Giessen, Germany.ORCID 0000-0001-8019-9272
Kaoru FujinamiInstitute of Ophthalmology, University College London, 11-43 Bath Street, London, UK.ORCID 0000-0003-4248-0033
Andrew R WebsterInstitute of Ophthalmology, University College London, 11-43 Bath Street, London, UK.ORCID 0000-0001-6915-9560
Omar A MahrooInstitute of Ophthalmology, University College London, 11-43 Bath Street, London, UK.ORCID 0000-0003-1254-0832
Susan M DownesOxford Eye Hospital, John Radcliffe Hospital, Oxford OX3 9DU, UK.ORCID 0000-0001-7373-2665
Savita MadhusuhanSt Paul's Eye Unit,Liverpool University Hospitals NHS Foundation Trust, Liverpool, UK.ORCID 0000-0002-8203-0929
Konstantinos BalaskasInstitute of Ophthalmology, University College London, 11-43 Bath Street, London, UK.ORCID 0000-0002-7690-6277
Michel MichaelidesInstitute of Ophthalmology, University College London, 11-43 Bath Street, London, UK.ORCID 0000-0002-1552-7046
Nikolas PontikosInstitute of Ophthalmology, University College London, 11-43 Bath Street, London, UK.ORCID 0000-0003-1782-4711

Funding

Translational pharmacoepidemiology: neuroprotection and neurotoxicity of antihypertensives and strong anticholinergicsU19AG066567 · NIA · KAISER FOUNDATION RESEARCH INSTITUTE · PI Pamela A Shaw · 2021 to 2026
$80.4M
Bridge2AI:Salutogenesis Data Generation ProjectOT2OD032644 · OD · WASHINGTON UNIVERSITY · PI BAXTER, SALLY LIU, CHUTE, CHRISTOPHER G · 2022 to 2025
$32.7M
Epidemiology and clinical outcomes of diabetic macular edemaK23EY029246 · NEI · UNIVERSITY OF WASHINGTON · PI LEE, AARON · 2018 to 2022
$1.1M
NEI NIH HHS K23 EY029246NIA NIH HHS U19 AG066567NIH HHS OT2 OD032644Wellcome Trust
6 · The paper itself

Abstract

Purpose: To quantify spectral-domain optical coherence tomography (SD-OCT) images cross-sectionally and longitudinally in a large cohort of molecularly characterized patients with inherited retinal disease (IRDs) from the UK. Design: Retrospective study of imaging data. Participants: Patients with a clinical and molecularly confirmed diagnosis of IRD who have undergone macular SD-OCT imaging at Moorfields Eye Hospital (MEH) between 2011 and 2019. We retrospectively identified 4,240 IRD patients from the MEH database (198 distinct IRD genes), including 69,664 SD-OCT macular volumes. Methods: Eight features of interest were defined: retina, fovea, intraretinal cystic spaces (ICS), subretinal fluid (SRF), subretinal hyper-reflective material (SHRM), pigment epithelium detachment (PED), ellipsoid zone loss (EZ-loss) and retinal pigment epithelium loss (RPE-loss). Manual annotations of five b-scans per SD-OCT volume was performed for the retinal features by four graders based on a defined grading protocol. A total of 1,749 b-scans from 360 SD-OCT volumes across 275 patients were annotated for the eight retinal features for training and testing of a neural-network-based segmentation model, AIRDetect-OCT, which was then applied to the entire imaging dataset. Main Outcome Measures: Performance of AIRDetect-OCT, comparing to inter-grader agreement was evaluated using Dice score on a held-out dataset. Feature prevalence, volume and area were analysed cross-sectionally and longitudinally. Results: The inter-grader Dice score for manual segmentation was ≥90% for retina, ICS, SRF, SHRM and PED, >77% for both EZ-loss and RPE-loss. Model-grader agreement was >80% for segmentation of retina, ICS, SRF, SHRM, and PED, and >68% for both EZ-loss and RPE-loss. Automatic segmentation was applied to 272,168 b-scans across 7,405 SD-OCT volumes from 3,534 patients encompassing 176 unique genes. Accounting for age, male patients exhibited significantly more EZ-loss (19.6mm Conclusions: AIRDetect-OCT, a novel deep learning algorithm, enables large-scale OCT feature quantification in IRD patients uncovering cross-sectional and longitudinal phenotype correlations with demographic and genotypic parameters.

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PMID40630585
PMCPMC12236878

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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.