Characterising the refractive error in paediatric patients with congenital stationary night blindness: a multicentre study.

child health (paediatrics) genetics

Journal

The British journal of ophthalmology
ISSN: 1468-2079
Titre abrégé: Br J Ophthalmol
Pays: England
ID NLM: 0421041

Informations de publication

Date de publication:
30 Jul 2024
Historique:
received: 12 04 2023
accepted: 18 07 2024
medline: 31 7 2024
pubmed: 31 7 2024
entrez: 30 7 2024
Statut: aheadofprint

Résumé

Congenital 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 This multicentre, retrospective study explored CSNB caused by variants in 78 individuals were included in this study. All genotypes showed a significant myopic predicted SER at birth (-3.076D, -5.511D and -5.386D) for Patients 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.

Sections du résumé

BACKGROUND/AAIMS UNASSIGNED
Congenital 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
METHODS METHODS
This multicentre, retrospective study explored CSNB caused by variants in
RESULTS RESULTS
78 individuals were included in this study. All genotypes showed a significant myopic predicted SER at birth (-3.076D, -5.511D and -5.386D) for
CONCLUSIONS CONCLUSIONS
Patients 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.

Identifiants

DOI: 10.1136/bjo-2023-323747 PMID: 39079892
pubmed: 39079892
pii: bjo-2023-323747
doi: 10.1136/bjo-2023-323747
pii:
doi:

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Informations de copyright

© Author(s) (or their employer(s)) 2024. No commercial re-use. See rights and permissions. Published by BMJ.

Déclaration de conflit d'intérêts

Competing interests: None declared.

Auteurs

Austin D Igelman (AD)

Oregon Health and Science University Casey Eye Institute, Portland, Oregon, USA.
ORCID: 0000-0002-6972-0458

Elizabeth White (E)

Oregon Health and Science University Casey Eye Institute, Portland, Oregon, USA.

Alaa Tayyib (A)

The Hospital for Sick Children, Toronto, Ontario, Canada.

Lesley Everett (L)

Oregon Health & Science University, Portland, Oregon, USA.
ORCID: 0000-0002-7373-2056

Ajoy Vincent (A)

Ophthalmology and Vision Sciences, University of Toronto, Toronto, Ontario, Canada.
Ophthalmology and Vision Sciences, The Hospital for Sick Children, Toronto, Ontario, Canada.
ORCID: 0000-0001-6446-3846

Elise Heon (E)

Ophthalmology and Vision Sciences, University of Toronto, Toronto, Ontario, Canada.
Ophthalmology and Vision Sciences, The Hospital for Sick Children, Toronto, Ontario, Canada.
ORCID: 0000-0003-4143-9311

Christina Zeitz (C)

Institut de la Vision, Sorbonne Université, INSERM, CNRS, Paris, France.
ORCID: 0000-0002-3510-1712

Michel Michaelides (M)

Moorfields Eye Hospital, London, UK.
Institute of Ophthalmology, University College London, London, UK.

Omar A Mahroo (OA)

Institute of Ophthalmology, University College London, London, UK.
Medical Retina Service, Moorfields Eye Hospital NHS Foundation Trust, London, UK.
ORCID: 0000-0003-1254-0832

Mohamed Katta (M)

Moorfields Eye Hospital, London, UK.

Andrew Webster (A)

Moorfields Eye Hospital, London, UK.

Markus Preising (M)

Ophthalmology, Justus-Liebig Universität, Giessen, Germany.

Birgit Lorenz (B)

Ophthalmology, Justus-Liebig-University,Universitätsklinikum Gießen und Marburg GmbH, Giessen campus, Giessen, Germany.
ORCID: 0000-0002-9737-8127

Samer Khateb (S)

Department of Ophthalmology, Hadassah Hebrew University Hospital, Jerusalem, Israel.

Eyal Banin (E)

Department of Ophthalmology, Hadassah Hebrew University Hospital, Jerusalem, Israel.

Dror Sharon (D)

Department of Ophthalmology, Hadassah Hebrew University Hospital, Jerusalem, Israel.

Shahar Luski (S)

Department of Ophthalmology, Hadassah Hebrew University Hospital, Jerusalem, Israel.

Filip Van Den Broeck (F)

Ghent University Department of Ophthalmology, Gent, Belgium.

Bart Peter Leroy (BP)

Department of Ophthalmology and Ctr for Med Genetics, Ghent University Hospital, Ghent, Belgium.
ORCID: 0000-0002-9899-2081

Elfride De Baere (E)

Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.

Sophie Walraedt (S)

Department of Ophthalmology, Ghent University, Gent, Belgium.

Katarina Stingl (K)

University Eye Hospital, Center for Ophthalmology, University of Tuebingen, Tuebingen, Germany.
ORCID: 0000-0002-8132-911X

Laura Kuehlewein (L)

University Eye Hospital, Center for Ophthalmology, University of Tuebingen, Tuebingen, Germany.
ORCID: 0000-0003-1906-8681

Susanne Kohl (S)

Molecular Genetics Laboratory, Institute for Ophthalmic Research, University of Tübingen, Tübingen, Germany.

Milda Reith (M)

University Eye Hospital, Center for Ophthalmology, University of Tuebingen, Tuebingen, Germany.
Molecular Genetics Laboratory, Institute for Ophthalmic Research, University of Tübingen, Tübingen, Germany.
ORCID: 0000-0003-3656-0707

Anne Fulton (A)

Boston Children's Hospital, Boston, Massachusetts, USA.

Aparna Raghuram (A)

Ophthalmology, Boston Children's Hospital, Boston, Massachusetts, USA.
Harvard Medical School, Boston, Massachusetts, USA.
ORCID: 0000-0002-2913-6046

Isabelle Meunier (I)

Ophthalmology, Reference Centre for Genetic Sensory diseases, University Hospital Centre Montpellier, Montpellier, France.

Hélène Dollfus (H)

Centre des affections rares en génétique ophtalmologique, CHU de Strasbourg, Strasbourg, France.

Tomas S Aleman (TS)

Ophthalmology, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.

Emma C Bedoukian (EC)

Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.

Erin C O'Neil (EC)

Ophthalmology, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.
Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.

Emily Krauss (E)

Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.

Andrea Vincent (A)

Ophthalmology, Auckland University, Auckland, New Zealand.
ORCID: 0000-0002-4185-3267

Charlotte Jordan (C)

Ophthalmology, Auckland University, Auckland, New Zealand.

Alessandro Iannaccone (A)

Duke University, Durham, North Carolina, USA.
Kittner Eye Center, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.
Cell and Gene Therapies, Ophthalmology, Astellas Pharma US, Northbrook, Illinois, USA.
ORCID: 0000-0001-5737-8424

Parveen Sen (P)

Shri Bhagwan Mahavir Vitreoretinal services, Sankara Nethralaya, Chennai, Tamil Nadu, India.

Srilekha Sundaramurthy (S)

SN ONGC Department of Genetcis and Molecular Biology, Vision Research Foundation, Chennai, Tamil Nadu, India.
Department of Vitreo-Retinal Services, Medical Research Foundation, Chennai, Tamil Nadu, India.

Soumittra Nagasamy (S)

SN ONGC Department of Genetcis and Molecular Biology, Vision Research Foundation, Chennai, Tamil Nadu, India.

Irina Balikova (I)

Department of Ophthalmology, University Hospital Leuven, Leuven, Belgium.

Ingele Casteels (I)

Ophthalmology, Leuven University, Leuven, Belgium.
ORCID: 0000-0002-2335-1845

Shyamanga Borooah (S)

University of California San Diego, La Jolla, California, USA.

Shaden Yassin (S)

University of California San Diego, La Jolla, California, USA.

Aaron Nagiel (A)

USC Keck School of Medicine, Los Angeles, California, USA.

Hillary Schwartz (H)

Children's Hospital Los Angeles, Los Angeles, California, USA.
ORCID: 0000-0002-2999-2256

Xavier Zanlonghi (X)

Department of Ophthalmology, University Hospital Centre Rennes, Rennes, France.

Irene Gottlob (I)

Ophthalmology Group, University of Leicester, Leicester, Leics, UK.

Rebecca J McLean (RJ)

Ulverscroft Eye Unit, University of Leicester, Leicester, UK.

Francis L Munier (FL)

Ophthalmology, Jules Gonin Eye Hospital, Lausanne, Switzerland.
ORCID: 0000-0002-8928-1050

Andrew Stephenson (A)

University of Cincinnati College of Medicine, Cincinnati, Ohio, USA.

Robert Sisk (R)

Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.

Robert Koenekoop (R)

McGill Univ Health Centre, Montreal, Québec, Canada.

Lorri B Wilson (LB)

Oregon Health and Science University Casey Eye Institute, Portland, Oregon, USA.

Douglas Fredrick (D)

Department of Ophthalmology, Kaiser Permanente, Daly City, California, USA.

Dongseok Choi (D)

OHSU-PSU School of Public Health, Oregon Health & Science University, Portland, Oregon, USA.
ORCID: 0000-0002-1552-4072

Paul Yang (P)

Oregon Health and Science University Casey Eye Institute, Portland, Oregon, USA.

Mark Edward Pennesi (ME)

Oregon Health and Science University Casey Eye Institute, Portland, Oregon, USA pennesim@ohsu.edu.
Retina Foundation of the Southwest, Dallas, Texas, USA.

Classifications MeSH