Evidence map›Paper›PMID 41979252›Full record

ArticleInvestigative ophthalmology & visual science2026

ABCA4 Versus PRPH2-Associated Retinopathy: Clinical and Electrophysiological Findings.

Rachael C Heath Jeffery, Jennifer A Thompson, Johnny Lo, Andrea L Vincent, Minal Patil, Lorenzo Bianco, Maurizio Battaglia Parodi, Lucia Ziccardi, Carmen Dell'Aquila, Lucilla Barbano and 22 more

Abstract readMulticenter Study
PubMed Full text at PMC Publisher
In one paragraph

Article in Investigative ophthalmology & visual science, 2026. 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

32 authors.

Rachael C Heath JefferyCentre for Ophthalmology and Visual Science, The University of Western Australia, Perth, Western Australia, Australia.
Jennifer A ThompsonAustralian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Nedlands, Western Australia, Australia.
Johnny LoMathematical Applications and Data Analytics Research Group, School of Science, Edith Cowan University, Perth, Western Australia, Australia.
Andrea L VincentDepartment of Ophthalmology, FMHS, New Zealand National Eye Centre, University of Auckland, Auckland, New Zealand.
Minal PatilDepartment of Ophthalmology, FMHS, New Zealand National Eye Centre, University of Auckland, Auckland, New Zealand.
Lorenzo BiancoDepartment of Ophthalmology, IRCCS San Raffaele Scientific Institute, Milan, Italy.
Maurizio Battaglia ParodiDepartment of Ophthalmology, IRCCS San Raffaele Scientific Institute, Milan, Italy.
Lucia ZiccardiIRCCS-Fondazione Bietti, Rome, Italy.
Carmen Dell'AquilaIRCCS-Fondazione Bietti, Rome, Italy.
Lucilla BarbanoIRCCS-Fondazione Bietti, Rome, Italy.
Wei Chao TangSingapore National Eye Centre, Singapore, Singapore.
Choi Mun ChanSingapore National Eye Centre, Singapore, Singapore.
Camiel J F BoonDepartment of Ophthalmology, Leiden University Medical Center, Leiden, The Netherlands.
Jonathan HensmanDepartment of Ophthalmology, Amsterdam University Medical Center, University of Amsterdam, The Netherlands.
Ta-Ching ChenDepartment of Ophthalmology, National Taiwan University Hospital, Taipei, Taiwan.
Chien-Yu LinDepartment of Ophthalmology, National Taiwan University Hospital, Taipei, Taiwan.
Pei-Lung ChenGraduate Institute of Medical Genomics and Proteomics, National Taiwan University, Taipei, Taiwan.
Ajoy VincentDepartment of Ophthalmology and Vision Sciences, Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
Anupreet TumberDepartment of Ophthalmology and Vision Sciences, Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
Elise HeonDepartment of Ophthalmology and Vision Sciences, Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
John R GriggSave Sight Institute, Faculty of Medicine and Health, The University of Sydney, Sydney, Australia.
Robyn V JamiesonSave Sight Institute, Faculty of Medicine and Health, The University of Sydney, Sydney, Australia.
Elisa E CornishSave Sight Institute, Faculty of Medicine and Health, The University of Sydney, Sydney, Australia.
Benjamin M NashEye Genetics Research Unit, Children's Medical Research Institute, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.
Jeremy ChouOphthalmology, Department of Surgery, University of Melbourne, Melbourne, Victoria, Australia.
Tina M LameyAustralian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Nedlands, Western Australia, Australia.
Samuel McLenachanCentre for Ophthalmology and Visual Science, The University of Western Australia, Perth, Western Australia, Australia.
Danial RoshandelCentre for Ophthalmology and Visual Science, The University of Western Australia, Perth, Western Australia, Australia.
Kaoru FujinamiLaboratory of Visual Physiology, Division of Vision Research, National Institute of Sensory Organs, NHO Tokyo Medical Centre, Tokyo, Japan.
Enid ChelvaClinical Physics, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Nedlands, Western Australia, Australia.
Terri L McLarenCentre for Ophthalmology and Visual Science, The University of Western Australia, Perth, Western Australia, Australia.
Fred K ChenCentre for Ophthalmology and Visual Science, The University of Western Australia, Perth, Western Australia, Australia.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Purpose: The purpose of this study was to characterize the clinical features, electrophysiology, and variant spectrum in ABCA4- and PRPH2-retinopathies and to identify novel electrodiagnostic biomarkers to differentiate between these two genotypes. Methods: We conducted an international multicenter case-control study of patients with a clinical and genetic diagnosis of ABCA4- or PRPH2-retinopathy. Age at symptom onset, best-corrected visual acuity (BCVA), electroretinography (ERG) components, and fundus autofluorescence (FAF) imaging were compared. Subgroup exploratory analysis was performed on those patients with a phenotype similar to central areolar choroidal dystrophy ("CACD-like"), those with flecks distributed throughout the posterior pole ("fleck-like") and a healthy control group. Receiver operating characteristic (ROC) analysis was performed to determine the optimal cutoff for ERG parameters to distinguish PRPH2- from ABCA4-retinopathy. Results: This study included 155 patients with ABCA4-retinopathy, 133 patients with PRPH2-retinopathy, and 52 healthy controls. Significant electrophysiological biomarkers included the light-adapted (LA)30 hertz (Hz) flicker and LA3.0 single flash b-wave peak time (P < 0.001) for the "CACD-like" group with an area under the ROC curve (AUROC) of 0.78 and 0.76 and cutoff thresholds of 27.8 ms or 31.7 ms providing 77% and 85% sensitivity, respectively. Conversely, in the "fleck-like" group, the dark-adapted (DA)0.01 b-wave amplitude and DA3 a-wave amplitude (P < 0.001) had the highest AUROC, namely 0.88 and 0.88, respectively, with cutoff thresholds of 85 µV and 109 µV providing 93% and 88% sensitivity, respectively. Conclusions: Unique ERG profiles can distinguish PRPH2- from ABCA4-retinopathy. The LA30 Hz peak time and DA0.01 b-wave amplitude may have clinical utility in predicting and interpreting the genotype in patients with overlapping retinal phenotypes.

Indexed as

ATP-Binding Cassette TransportersPeripherinsRetinal DiseasesAdultCase-Control StudiesElectroretinographyFemaleFluorescein AngiographyGenotypeHumansMaleMiddle AgedPhenotypeROC CurveVisual AcuityABCA4 protein, humanATP-Binding Cassette TransportersPeripherinsPRPH2 protein, human

Identifiers

PMID41979252
PMCPMC13089665

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Registered trials

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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.