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

Autor:	Igelman AD; Oregon Health and Science University Casey Eye Institute, Portland, Oregon, USA., White E; Oregon Health and Science University Casey Eye Institute, Portland, Oregon, USA., Tayyib A; The Hospital for Sick Children, Toronto, Ontario, Canada., Everett L; Oregon Health & Science University, Portland, Oregon, USA., Vincent A; Ophthalmology and Vision Sciences, University of Toronto, Toronto, Ontario, Canada.; Ophthalmology and Vision Sciences, The Hospital for Sick Children, Toronto, Ontario, Canada., Heon E; Ophthalmology and Vision Sciences, University of Toronto, Toronto, Ontario, Canada.; Ophthalmology and Vision Sciences, The Hospital for Sick Children, Toronto, Ontario, Canada., Zeitz C; Institut de la Vision, Sorbonne Université, INSERM, CNRS, Paris, France., Michaelides M; Moorfields Eye Hospital, London, UK.; Institute of Ophthalmology, University College London, London, UK., Mahroo OA; Institute of Ophthalmology, University College London, London, UK.; Medical Retina Service, Moorfields Eye Hospital NHS Foundation Trust, London, UK., Katta M; Moorfields Eye Hospital, London, UK., Webster A; Moorfields Eye Hospital, London, UK., Preising M; Ophthalmology, Justus-Liebig Universität, Giessen, Germany., Lorenz B; Ophthalmology, Justus-Liebig-University,Universitätsklinikum Gießen und Marburg GmbH, Giessen campus, Giessen, Germany., Khateb S; Department of Ophthalmology, Hadassah Hebrew University Hospital, Jerusalem, Israel., Banin E; Department of Ophthalmology, Hadassah Hebrew University Hospital, Jerusalem, Israel., Sharon D; Department of Ophthalmology, Hadassah Hebrew University Hospital, Jerusalem, Israel., Luski S; Department of Ophthalmology, Hadassah Hebrew University Hospital, Jerusalem, Israel., Van Den Broeck F; Ghent University Department of Ophthalmology, Gent, Belgium., Leroy BP; Department of Ophthalmology and Ctr for Med Genetics, Ghent University Hospital, Ghent, Belgium., De Baere E; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium., Walraedt S; Department of Ophthalmology, Ghent University, Gent, Belgium., Stingl K; University Eye Hospital, Center for Ophthalmology, University of Tuebingen, Tuebingen, Germany., Kuehlewein L; University Eye Hospital, Center for Ophthalmology, University of Tuebingen, Tuebingen, Germany., Kohl S; Molecular Genetics Laboratory, Institute for Ophthalmic Research, University of Tübingen, Tübingen, Germany., 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., Fulton A; Boston Children's Hospital, Boston, Massachusetts, USA., Raghuram A; Ophthalmology, Boston Children's Hospital, Boston, Massachusetts, USA.; Harvard Medical School, Boston, Massachusetts, USA., Meunier I; Ophthalmology, Reference Centre for Genetic Sensory diseases, University Hospital Centre Montpellier, Montpellier, France., Dollfus H; Centre des affections rares en génétique ophtalmologique, CHU de Strasbourg, Strasbourg, France., Aleman TS; Ophthalmology, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA., Bedoukian EC; Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., O'Neil EC; Ophthalmology, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.; Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Krauss E; Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Vincent A; Ophthalmology, Auckland University, Auckland, New Zealand., Jordan C; Ophthalmology, Auckland University, Auckland, New Zealand., 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., Sen P; Shri Bhagwan Mahavir Vitreoretinal services, Sankara Nethralaya, Chennai, Tamil Nadu, India., 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., Nagasamy S; SN ONGC Department of Genetcis and Molecular Biology, Vision Research Foundation, Chennai, Tamil Nadu, India., Balikova I; Department of Ophthalmology, University Hospital Leuven, Leuven, Belgium., Casteels I; Ophthalmology, Leuven University, Leuven, Belgium., Borooah S; University of California San Diego, La Jolla, California, USA., Yassin S; University of California San Diego, La Jolla, California, USA., Nagiel A; USC Keck School of Medicine, Los Angeles, California, USA., Schwartz H; Children's Hospital Los Angeles, Los Angeles, California, USA., Zanlonghi X; Department of Ophthalmology, University Hospital Centre Rennes, Rennes, France., Gottlob I; Ophthalmology Group, University of Leicester, Leicester, Leics, UK., McLean RJ; Ulverscroft Eye Unit, University of Leicester, Leicester, UK., Munier FL; Ophthalmology, Jules Gonin Eye Hospital, Lausanne, Switzerland., Stephenson A; University of Cincinnati College of Medicine, Cincinnati, Ohio, USA., Sisk R; Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA., Koenekoop R; McGill Univ Health Centre, Montreal, Québec, Canada., Wilson LB; Oregon Health and Science University Casey Eye Institute, Portland, Oregon, USA., Fredrick D; Department of Ophthalmology, Kaiser Permanente, Daly City, California, USA., Choi D; OHSU-PSU School of Public Health, Oregon Health & Science University, Portland, Oregon, USA., Yang P; Oregon Health and Science University Casey Eye Institute, Portland, Oregon, USA., Pennesi ME; Oregon Health and Science University Casey Eye Institute, Portland, Oregon, USA pennesim@ohsu.edu.; Retina Foundation of the Southwest, Dallas, Texas, USA.
Jazyk:	angličtina
Zdroj:	The British journal of ophthalmology [Br J Ophthalmol] 2024 Jul 30. Date of Electronic Publication: 2024 Jul 30.
DOI:	10.1136/bjo-2023-323747
Abstrakt:	Background/aaims: 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 CACNA1F , NYX and TRPM1 . High myopia is associated with retinal degeneration and increased risk for retinal detachment. Slowing the progression of myopia in patients with CSNB would likely be beneficial in reducing risk, but before interventions can be considered, it is important to understand the natural history of myopic progression. Methods: This multicentre, retrospective study explored CSNB caused by variants in CACNA1F , NYX or TRPM1 in patients who had at least 6 measurements of their spherical equivalent of refraction (SER) before the age of 18. A mixed-effect model was used to predict progression of SER overtime and differences between genotypes were evaluated. 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 CACNA1F , NYX and TRPM1 respectively. Additionally, significant progression of myopia per year (-0.254D, -0.257D and -0.326D) was observed for all three genotypes CACNA1F , NYX and TRPM1 , respectively. 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. Competing Interests: Competing interests: None declared. (© Author(s) (or their employer(s)) 2024. No commercial re-use. See rights and permissions. Published by BMJ.)
Databáze:	MEDLINE
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