ArticleThe British journal of ophthalmology2025
Characterising the refractive error in paediatric patients with congenital stationary night blindness: a multicentre study.
Abstract readMulticenter Study
In one paragraph
Article in The British journal of ophthalmology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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7citing papers in PubMed
–field-weighted citation impact
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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.
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Who cites it
7 citing papers in PubMed.
- Aetiology, characteristics and workup of early onset high myopia.The British journal of ophthalmology · 2026Article
- Genotype-phenotype correlations in Chinese patients with congenital stationary night blindness and early-onset high myopia: evidence from electrophysiology and whole-exome sequencing.International journal of ophthalmology · 2026Article
- Article
- Genetic Spectrum of Negative Electroretinograms in a Predominantly Pediatric Cohort of 177 Patients.Investigative ophthalmology & visual science · 2025Article
- Natural course of refractive errors in early onset inherited retinal diseases.Eye (London, England) · 2025Article
- Increased sensitivity to myopia and altered retinal ON/OFF balance in a mouse model lackingbioRxiv : the preprint server for biology · 2025Article
- Natural Course of Refractive Error in Congenital Stationary Night Blindness: Implications for Myopia Treatment.Investigative ophthalmology & visual science · 2024Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
57 authors.
Austin D IgelmanOregon Health and Science University Casey Eye Institute, Portland, Oregon, USA.ORCID http://orcid.org/0000-0002-6972-0458
Elizabeth WhiteOregon Health and Science University Casey Eye Institute, Portland, Oregon, USA.
Alaa TayyibThe Hospital for Sick Children, Toronto, Ontario, Canada.
Lesley EverettOregon Health & Science University, Portland, Oregon, USA.ORCID http://orcid.org/0000-0002-7373-2056
Ajoy VincentOphthalmology and Vision Sciences, University of Toronto, Toronto, Ontario, Canada.ORCID http://orcid.org/0000-0001-6446-3846
Elise HeonOphthalmology and Vision Sciences, University of Toronto, Toronto, Ontario, Canada.ORCID http://orcid.org/0000-0003-4143-9311
Christina ZeitzInstitut de la Vision, Sorbonne Université, INSERM, CNRS, Paris, France.ORCID http://orcid.org/0000-0002-3510-1712
Michel MichaelidesMoorfields Eye Hospital, London, UK.
Omar A MahrooInstitute of Ophthalmology, University College London, London, UK.ORCID http://orcid.org/0000-0003-1254-0832
Mohamed KattaMoorfields Eye Hospital, London, UK.
Andrew WebsterMoorfields Eye Hospital, London, UK.
Markus PreisingOphthalmology, Justus-Liebig Universität, Giessen, Germany.
Birgit LorenzOphthalmology, Justus-Liebig-University,Universitätsklinikum Gießen und Marburg GmbH, Giessen campus, Giessen, Germany.ORCID http://orcid.org/0000-0002-9737-8127
Samer KhatebDepartment of Ophthalmology, Hadassah Hebrew University Hospital, Jerusalem, Israel.
Eyal BaninDepartment of Ophthalmology, Hadassah Hebrew University Hospital, Jerusalem, Israel.
Dror SharonDepartment of Ophthalmology, Hadassah Hebrew University Hospital, Jerusalem, Israel.
Shahar LuskiDepartment of Ophthalmology, Hadassah Hebrew University Hospital, Jerusalem, Israel.
Filip Van Den BroeckGhent University Department of Ophthalmology, Gent, Belgium.
Bart Peter LeroyDepartment of Ophthalmology and Ctr for Med Genetics, Ghent University Hospital, Ghent, Belgium.ORCID http://orcid.org/0000-0002-9899-2081
Elfride De BaereCenter for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
Sophie WalraedtDepartment of Ophthalmology, Ghent University, Gent, Belgium.
Katarina StinglUniversity Eye Hospital, Center for Ophthalmology, University of Tuebingen, Tuebingen, Germany.ORCID http://orcid.org/0000-0002-8132-911X
Laura KuehleweinUniversity Eye Hospital, Center for Ophthalmology, University of Tuebingen, Tuebingen, Germany.ORCID http://orcid.org/0000-0003-1906-8681
Susanne KohlMolecular Genetics Laboratory, Institute for Ophthalmic Research, University of Tübingen, Tübingen, Germany.
Milda ReithUniversity Eye Hospital, Center for Ophthalmology, University of Tuebingen, Tuebingen, Germany.ORCID http://orcid.org/0000-0003-3656-0707
Anne FultonBoston Children's Hospital, Boston, Massachusetts, USA.
Aparna RaghuramOphthalmology, Boston Children's Hospital, Boston, Massachusetts, USA.ORCID http://orcid.org/0000-0002-2913-6046
Isabelle MeunierOphthalmology, Reference Centre for Genetic Sensory diseases, University Hospital Centre Montpellier, Montpellier, France.
Hélène DollfusCentre des affections rares en génétique ophtalmologique, CHU de Strasbourg, Strasbourg, France.
Tomas S AlemanOphthalmology, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.
Emma C BedoukianChildren's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Erin C O'NeilOphthalmology, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.
Emily KraussChildren's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Andrea VincentOphthalmology, Auckland University, Auckland, New Zealand.ORCID http://orcid.org/0000-0002-4185-3267
Charlotte JordanOphthalmology, Auckland University, Auckland, New Zealand.
Alessandro IannacconeDuke University, Durham, North Carolina, USA.ORCID http://orcid.org/0000-0001-5737-8424
Parveen SenShri Bhagwan Mahavir Vitreoretinal services, Sankara Nethralaya, Chennai, Tamil Nadu, India.
Srilekha SundaramurthySN ONGC Department of Genetcis and Molecular Biology, Vision Research Foundation, Chennai, Tamil Nadu, India.
Soumittra NagasamySN ONGC Department of Genetcis and Molecular Biology, Vision Research Foundation, Chennai, Tamil Nadu, India.
Irina BalikovaDepartment of Ophthalmology, University Hospital Leuven, Leuven, Belgium.
Ingele CasteelsOphthalmology, Leuven University, Leuven, Belgium.ORCID http://orcid.org/0000-0002-2335-1845
Shyamanga BorooahUniversity of California San Diego, La Jolla, California, USA.
Shaden YassinUniversity of California San Diego, La Jolla, California, USA.
Aaron NagielUSC Keck School of Medicine, Los Angeles, California, USA.
Hillary SchwartzChildren's Hospital Los Angeles, Los Angeles, California, USA.ORCID http://orcid.org/0000-0002-2999-2256
Xavier ZanlonghiDepartment of Ophthalmology, University Hospital Centre Rennes, Rennes, France.
Irene GottlobOphthalmology Group, University of Leicester, Leicester, Leics, UK.
Rebecca J McLeanUlverscroft Eye Unit, University of Leicester, Leicester, UK.
Francis L MunierOphthalmology, Jules Gonin Eye Hospital, Lausanne, Switzerland.ORCID http://orcid.org/0000-0002-8928-1050
Andrew StephensonUniversity of Cincinnati College of Medicine, Cincinnati, Ohio, USA.
Robert SiskCincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.
Robert KoenekoopMcGill Univ Health Centre, Montreal, Québec, Canada.
Lorri B WilsonOregon Health and Science University Casey Eye Institute, Portland, Oregon, USA.
Douglas FredrickDepartment of Ophthalmology, Kaiser Permanente, Daly City, California, USA.
Dongseok ChoiOHSU-PSU School of Public Health, Oregon Health & Science University, Portland, Oregon, USA.ORCID http://orcid.org/0000-0002-1552-4072
Paul YangOregon Health and Science University Casey Eye Institute, Portland, Oregon, USA.
Mark Edward PennesiOregon Health and Science University Casey Eye Institute, Portland, Oregon, USA pennesim@ohsu.edu.
Funding
Proteomics CoreP30EY010572 · NEI · OREGON HEALTH & SCIENCE UNIVERSITY · PI Kate E Keller · 1995 to 2026
$19.4MPENN Vision Clinical Scientist ProgramK12EY015398 · NEI · UNIVERSITY OF PENNSYLVANIA · PI JOSHUA L DUNAIEF · 2004 to 2026
$11.7MGenetic Analysis and Manipulation Core (GAEC)P50HD105351 · NICHD · BOSTON CHILDREN'S HOSPITAL · PI SCOTT Loren POMEROY, MUSTAFA SAHIN · 2021 to 2026
$9.4MDevelopment and Maintenance of the Human Photoreceptor-Bipolar Cell Synapse.K08EY030924 · NEI · CHILDREN'S HOSPITAL OF LOS ANGELES · PI NAGIEL, AARON · 2020 to 2024
$1.1MNEI NIH HHS K08 EY030924NEI NIH HHS K12 EY015398NEI NIH HHS P30 EY010572NICHD NIH HHS P50 HD105351
Abstract
background/aaimsCongenital stationary night blindness (CSNB) is an inherited retinal disease that is often associated with high myopia and can be caused by pathological variants in multiple genes, most commonly
methodsThis multicentre, retrospective study explored CSNB caused by variants in
results78 individuals were included in this study. All genotypes showed a significant myopic predicted SER at birth (-3.076D, -5.511D and -5.386D) for
conclusionsPatients with CSNB tend to be myopic from an early age and progress to become more myopic with age. Patients may benefit from long-term myopia slowing treatment in the future and further studies are indicated. Additionally, CSNB should be considered in the differential diagnosis for early-onset myopia.
Indexed as
Eye Diseases, HereditaryGenetic Diseases, X-LinkedMyopiaNight BlindnessRefraction, OcularAdolescentCalcium Channels, L-TypeChildChild, PreschoolDisease ProgressionFemaleGenotypeHumansMaleProteoglycansRetrospective StudiesCACNA1F protein, humanCalcium Channels, L-TypeNYX protein, humanProteoglycansTRPM1 protein, humanTRPM Cation Channelschild health (paediatrics)genetics
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