Evidence map›Paper›PMID 37806543›Full record

ArticleAmerican journal of ophthalmology2024

RBP3-Retinopathy-Inherited High Myopia and Retinal Dystrophy: Genetic Characterization, Natural History, and Deep Phenotyping.

Michalis Georgiou, Kaoru Fujinami, Anthony G Robson, Yu Fujinami-Yokokawa, Ahmed F Shakarchi, Marco H Ji, Sami H Uwaydat, Angela Kim, Masha Kolesnikova, Gavin Arno and 5 more

Open access · hybridAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in American journal of ophthalmology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.

0numbers the graph read from it
0cells of the map it votes in
9citing papers in PubMed
1.1field-weighted citation impact, top 22% of its field
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

9 citing papers in PubMed, 7 citations in OpenAlex.

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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

15 authors at 5 institutions in 4 countries.

Michalis GeorgiouFrom Moorfields Eye Hospital (M.G., K.F., A.G.R., G.A., N.P., O.A.M., A.R.W., M.M.), London, UK; UCL Institute of Ophthalmology (M.G., K.F., A.G.R.m G.A., N.P., O.A.M., A.R.W., M.M.), University College London, London, UK; Jones Eye Institute (M.G., A.F.S., M.H.J., S.H.U.), University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA.
Kaoru FujinamiFrom Moorfields Eye Hospital (M.G., K.F., A.G.R., G.A., N.P., O.A.M., A.R.W., M.M.), London, UK; UCL Institute of Ophthalmology (M.G., K.F., A.G.R.m G.A., N.P., O.A.M., A.R.W., M.M.), University College London, London, UK; Laboratory of Visual Physiology (K.F., Y.F.-Y.), Division of Vision Research, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo, Japan.
Anthony G RobsonFrom Moorfields Eye Hospital (M.G., K.F., A.G.R., G.A., N.P., O.A.M., A.R.W., M.M.), London, UK; UCL Institute of Ophthalmology (M.G., K.F., A.G.R.m G.A., N.P., O.A.M., A.R.W., M.M.), University College London, London, UK.
Yu Fujinami-YokokawaLaboratory of Visual Physiology (K.F., Y.F.-Y.), Division of Vision Research, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo, Japan; Department of Health Policy and Management (Y.F.-Y.), Keio University School of Medicine, Tokyo, Japan.
Ahmed F ShakarchiJones Eye Institute (M.G., A.F.S., M.H.J., S.H.U.), University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA.
Marco H JiJones Eye Institute (M.G., A.F.S., M.H.J., S.H.U.), University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA.
Sami H UwaydatJones Eye Institute (M.G., A.F.S., M.H.J., S.H.U.), University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA.
Angela KimJonas Children's Vision Care (A.K., M.K., S.H.T.), Departments of Ophthalmology, Pathology & Cell Biology, Columbia Stem Cell Initiative, Columbia University, and Edward S. Harkness Eye Institute, New York-Presbyterian Hospital, New York, New York, USA.
Masha KolesnikovaJonas Children's Vision Care (A.K., M.K., S.H.T.), Departments of Ophthalmology, Pathology & Cell Biology, Columbia Stem Cell Initiative, Columbia University, and Edward S. Harkness Eye Institute, New York-Presbyterian Hospital, New York, New York, USA.
Gavin ArnoFrom Moorfields Eye Hospital (M.G., K.F., A.G.R., G.A., N.P., O.A.M., A.R.W., M.M.), London, UK; UCL Institute of Ophthalmology (M.G., K.F., A.G.R.m G.A., N.P., O.A.M., A.R.W., M.M.), University College London, London, UK.
Nikolas PontikosFrom Moorfields Eye Hospital (M.G., K.F., A.G.R., G.A., N.P., O.A.M., A.R.W., M.M.), London, UK; UCL Institute of Ophthalmology (M.G., K.F., A.G.R.m G.A., N.P., O.A.M., A.R.W., M.M.), University College London, London, UK.
Omar A MahrooFrom Moorfields Eye Hospital (M.G., K.F., A.G.R., G.A., N.P., O.A.M., A.R.W., M.M.), London, UK; UCL Institute of Ophthalmology (M.G., K.F., A.G.R.m G.A., N.P., O.A.M., A.R.W., M.M.), University College London, London, UK.
Stephen H TsangJonas Children's Vision Care (A.K., M.K., S.H.T.), Departments of Ophthalmology, Pathology & Cell Biology, Columbia Stem Cell Initiative, Columbia University, and Edward S. Harkness Eye Institute, New York-Presbyterian Hospital, New York, New York, USA.
Andrew R WebsterFrom Moorfields Eye Hospital (M.G., K.F., A.G.R., G.A., N.P., O.A.M., A.R.W., M.M.), London, UK; UCL Institute of Ophthalmology (M.G., K.F., A.G.R.m G.A., N.P., O.A.M., A.R.W., M.M.), University College London, London, UK.
Michel MichaelidesFrom Moorfields Eye Hospital (M.G., K.F., A.G.R., G.A., N.P., O.A.M., A.R.W., M.M.), London, UK; UCL Institute of Ophthalmology (M.G., K.F., A.G.R.m G.A., N.P., O.A.M., A.R.W., M.M.), University College London, London, UK. Electronic address: michel.michaelides@ucl.ac.uk.
Dr. M.G.R. Educational and Research Institute · INNewYork–Presbyterian Hospital · USUniversity of Arkansas for Medical Sciences · USKeio University · JPMACOM (United States) · US

Funding

Instrumentation, Fabrication, and Design CoreP30EY019007 · NEI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI Xin Zhang · 2010 to 2026
$12.9M
Therapeutic gene editing and multimodal imaging in juvenile macular degeneration R24EY028758 · NEI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI AUDO , ISABELLE, SPARROW, JANET RUTHE · 2020 to 2024
$10.9M
Translational Gene Therapy for CNGB1 Retinitis PigmentosaR24EY027285 · NEI · MICHIGAN STATE UNIVERSITY · PI HAUSWIRTH, WILLIAM W, MICHALAKIS, STYLIANOS · 2018 to 2022
$8.6M
Toward mechanism- and gene-based therapies for retinal degenerationR01EY018213 · NEI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI Stephen H Tsang · 2008 to 2026
$6.6M
Gene Silencing and Gene Editing in PhototransductionR01EY024698 · NEI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI Stephen H Tsang · 2015 to 2026
$4.7M
Enhancing cone survival in retinitis pigmentosa through cell-specific therapeutic CRISPR editing of a roxadustat targetR01EY033770 · NEI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI JAMES Bryant HURLEY, Stephen H Tsang · 2022 to 2026
$2.6M
Identification of the specific risk allele responsible for oxidative stress in ARMS2/HTRA1-related AMDU01EY034590 · NEI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI MCFALINE-FIGUEROA, JOSE LUIS, TSANG, STEPHEN H · 2022 to 2024
$1.2M
Precision genome surgery in autologous stem cell transplantU01EY030580 · NEI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI SPARROW, JANET RUTHE, TSANG, STEPHEN H · 2019 to 2020
$810k
NEI NIH HHS P30 EY019007NEI NIH HHS R01 EY018213NEI NIH HHS R01 EY024698NEI NIH HHS R01 EY033770NEI NIH HHS R24 EY027285NEI NIH HHS R24 EY028758NEI NIH HHS U01 EY030580NEI NIH HHS U01 EY034590Wellcome Trust
6 · The paper itself

Abstract

purposeTo examine the genetic and clinical features and the natural history of RBP3-associated retinopathy.

designMulti-center international, retrospective, case series of adults and children, with moleculraly confirmed RBP3-asociated retinopathy.

methodsThe genetic, clinical, and retinal imaging findings, including optical coherence tomography (OCT) and fundus autofluorescence (FAF), were investigated both cross-sectionally and longitudinally. The results of international standard full-field electroretinography (ERG) and pattern electroretinography (PERG) were reviewed.

resultsWe ascertained 12 patients (5 female and 7 male) from 10 families (4 patients previously reported). Ten novel disease-causing RBP3 variants were identified. Ten patients were homozygous. The mean age (±SD, range) of the group was 21.4 years (±19.1, 2.9-60.5 years) at baseline evaluation. All 12 patients were highly myopic, with a mean spherical equivalent of -16.0D (range, -7.0D to -33.0D). Visual acuity was not significantly different between eyes, and no significant anisometropia was observed. Mean best-corrected visual acuity (BCVA) was 0.48 logMAR (SD, ±0.29; range, 0.2-1.35 logMAR); at baseline. Eleven patients had longitudinal BCVA assessment, with a mean BCVA of 0.46 logMAR after a mean follow-up of 12.6 years. All patients were symptomatic with reduced VA and myopia by the age of 7 years old. All patients had myopic fundi and features in keeping with high myopia on OCT, including choroidal thinning. The 4 youngest patients had no fundus pigmentary changes, with the rest of the patients presenting with a variable degree of mid-peripheral pigmentation and macular changes. FAF showed variable phenotypes, ranging from areas of increased signal to advanced atrophy in older patients. OCT showed cystoid macular edema at presentation in 3 patients, which persisted during follow-up in 2 patients and resolved to atrophy in the third patient. The ERGs were abnormal in 9 of 9 cases, revealing variable relative involvement of rod and cone photoreceptors with additional milder dysfunction post-phototransduction in some. All but 1 patient had PERG evidence of macular dysfunction, which was severe in most cases.

conclusionsThis study details the clinical and functional phenotype of RBP3-retinopathy in the largest cohort reported to date. RBP3-retinopathy is a disease characterized by early onset, slow progression over decades, and high myopia. The phenotypic spectrum and natural history as described herein has prognostic and counseling implications. RBP3-related disease should be considered in children with high myopia and retinal dystrophy.

Indexed as

MyopiaRetinal DystrophiesRetinol-Binding ProteinsAdultAgedAtrophyChildElectroretinographyFemaleHumansMaleRetinaRetinol-Binding Proteins, InterstitialRetrospective StudiesTomography, Optical CoherenceYoung AdultRetinol-Binding ProteinsRetinol-Binding Proteins, Interstitial

Identifiers

PMID37806543
PMCPMC11139644
OpenAlexW4387428679

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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.