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Genetic eye disease
Characterising the refractive error in paediatric patients with congenital stationary night blindness: a multicentre study
  1. Austin D Igelman1,
  2. Elizabeth White1,
  3. Alaa Tayyib2,
  4. Lesley Everett3,
  5. Ajoy Vincent4,5,
  6. Elise Heon4,5,
  7. Christina Zeitz6,
  8. Michel Michaelides7,8,
  9. Omar A Mahroo8,9,
  10. Mohamed Katta7,
  11. Andrew Webster7,
  12. Markus Preising10,
  13. Birgit Lorenz11,
  14. Samer Khateb12,
  15. Eyal Banin12,
  16. Dror Sharon12,
  17. Shahar Luski12,
  18. Filip Van Den Broeck13,
  19. Bart Peter Leroy14,
  20. Elfride De Baere15,
  21. Sophie Walraedt16,
  22. Katarina Stingl17,
  23. Laura Kuehlewein17,
  24. Susanne Kohl18,
  25. Milda Reith17,18,
  26. Anne Fulton19,
  27. Aparna Raghuram20,21,
  28. Isabelle Meunier22,
  29. Hélène Dollfus23,
  30. Tomas S Aleman24,
  31. Emma C Bedoukian25,
  32. Erin C O'Neil24,25,
  33. Emily Krauss25,
  34. Andrea Vincent26,
  35. Charlotte Jordan26,
  36. Alessandro Iannaccone27,28,29,
  37. Parveen Sen30,
  38. Srilekha Sundaramurthy31,32,
  39. Soumittra Nagasamy31,
  40. Irina Balikova33,
  41. Ingele Casteels34,
  42. Shyamanga Borooah35,
  43. Shaden Yassin35,
  44. Aaron Nagiel36,
  45. Hillary Schwartz37,
  46. Xavier Zanlonghi38,
  47. Irene Gottlob39,
  48. Rebecca J McLean40,
  49. Francis L Munier41,
  50. Andrew Stephenson42,
  51. Robert Sisk43,
  52. Robert Koenekoop44,
  53. Lorri B Wilson1,
  54. Douglas Fredrick45,
  55. Dongseok Choi46,
  56. Paul Yang1,
  57. Mark Edward Pennesi1,47
  1. 1Oregon Health and Science University Casey Eye Institute, Portland, Oregon, USA
  2. 2The Hospital for Sick Children, Toronto, Ontario, Canada
  3. 3Oregon Health & Science University, Portland, Oregon, USA
  4. 4Ophthalmology and Vision Sciences, University of Toronto, Toronto, Ontario, Canada
  5. 5Ophthalmology and Vision Sciences, The Hospital for Sick Children, Toronto, Ontario, Canada
  6. 6Institut de la Vision, Sorbonne Université, INSERM, CNRS, Paris, France
  7. 7Moorfields Eye Hospital, London, UK
  8. 8Institute of Ophthalmology, University College London, London, UK
  9. 9Medical Retina Service, Moorfields Eye Hospital NHS Foundation Trust, London, UK
  10. 10Ophthalmology, Justus-Liebig Universität, Giessen, Germany
  11. 11Ophthalmology, Justus-Liebig-University,Universitätsklinikum Gießen und Marburg GmbH, Giessen campus, Giessen, Germany
  12. 12Department of Ophthalmology, Hadassah Hebrew University Hospital, Jerusalem, Israel
  13. 13Ghent University Department of Ophthalmology, Gent, Belgium
  14. 14Department of Ophthalmology and Ctr for Med Genetics, Ghent University Hospital, Ghent, Belgium
  15. 15Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium
  16. 16Department of Ophthalmology, Ghent University, Gent, Belgium
  17. 17University Eye Hospital, Center for Ophthalmology, University of Tuebingen, Tuebingen, Germany
  18. 18Molecular Genetics Laboratory, Institute for Ophthalmic Research, University of Tübingen, Tübingen, Germany
  19. 19Boston Children's Hospital, Boston, Massachusetts, USA
  20. 20Ophthalmology, Boston Children's Hospital, Boston, Massachusetts, USA
  21. 21Harvard Medical School, Boston, Massachusetts, USA
  22. 22Ophthalmology, Reference Centre for Genetic Sensory diseases, University Hospital Centre Montpellier, Montpellier, France
  23. 23Centre des affections rares en génétique ophtalmologique, CHU de Strasbourg, Strasbourg, France
  24. 24Ophthalmology, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA
  25. 25Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania, USA
  26. 26Ophthalmology, Auckland University, Auckland, New Zealand
  27. 27Duke University, Durham, North Carolina, USA
  28. 28Kittner Eye Center, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA
  29. 29Cell and Gene Therapies, Ophthalmology, Astellas Pharma US, Northbrook, Illinois, USA
  30. 30Shri Bhagwan Mahavir Vitreoretinal services, Sankara Nethralaya, Chennai, Tamil Nadu, India
  31. 31SN ONGC Department of Genetcis and Molecular Biology, Vision Research Foundation, Chennai, Tamil Nadu, India
  32. 32Department of Vitreo-Retinal Services, Medical Research Foundation, Chennai, Tamil Nadu, India
  33. 33Department of Ophthalmology, University Hospital Leuven, Leuven, Belgium
  34. 34Ophthalmology, Leuven University, Leuven, Belgium
  35. 35University of California San Diego, La Jolla, California, USA
  36. 36USC Keck School of Medicine, Los Angeles, California, USA
  37. 37Children's Hospital Los Angeles, Los Angeles, California, USA
  38. 38Department of Ophthalmology, University Hospital Centre Rennes, Rennes, France
  39. 39Ophthalmology Group, University of Leicester, Leicester, Leics, UK
  40. 40Ulverscroft Eye Unit, University of Leicester, Leicester, UK
  41. 41Ophthalmology, Jules Gonin Eye Hospital, Lausanne, Switzerland
  42. 42University of Cincinnati College of Medicine, Cincinnati, Ohio, USA
  43. 43Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA
  44. 44McGill Univ Health Centre, Montreal, Québec, Canada
  45. 45Department of Ophthalmology, Kaiser Permanente, Daly City, California, USA
  46. 46OHSU-PSU School of Public Health, Oregon Health & Science University, Portland, Oregon, USA
  47. 47Retina Foundation of the Southwest, Dallas, Texas, USA
  1. Correspondence to Dr Mark Edward Pennesi; pennesim{at}ohsu.edu

Abstract

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.

  • child health (paediatrics)
  • genetics

Data availability statement

Data are available upon reasonable request. We can provide data to individuals if they have a reasonable request.

https://doi.org/10.1136/bjo-2023-323747

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    Data availability statement

    Data are available upon reasonable request. We can provide data to individuals if they have a reasonable request.

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    Footnotes

    • X @HeonJeon, @Ethellini

    • Contributors ADI wrote the manuscript. ADI and MEP developed the study initially. ADI and EW provided data analysis. All authors were involved in data collection, editing the manuscript, adjusting the study and providing unique scientific support. MEP is guarantor.

    • Funding This study was supported in part by an unrestricted grant to the Casey Eye Institute from the Research to Prevent Blindness and an NEI core grant P30 EY010572 for ADI, EW, LE, LW, DC, PY and MEP. PY was supported by the Malcolm M. Marquis, MD Endowed Fund for Innovation. This study was supported in part by an unrestricted grant to the Department of Ophthalmology at the USC Keck School of Medicine from Research to Prevent Blindness (AN), NIH K08EY030924 (AN), the Las Madrinas Endowment in Experimental Therapeutics for Ophthalmology (AN), a Research to Prevent Blindness Career Development Award (AN) and a Knights Templar Eye Foundation Endowment (AN). This study was financially supported by the Foundation Fighting Blindness USA (BR-GE-0214-0639 to DS, EB and TBY), Israel Science Foundation (#2154/15 to SK), Chief Scientist Office of the Israeli Ministry of Health and the Lirot association (#300009177 to SK) and the Yedidut Research grant (to EB). This study was supported in part by Indian Council of Medical Research and INSERM (France), an Indo-French collaborative program (No: 53/1/Indo-Foreign/Oph/10-NCD-II). Funding for OAM, ARW, MM and MK were from the Welcome Trust (206619/Z/17/Z) and the NIHR Biomedical Research Centre at Moorfields Eye Hospital and the UCL Institute of Ophthalmology. This study was in part supported by the Fighting Blindness Canada and Vision Health Research Network for RK. This study was further supported by the Ghent University Special Research Fund (BOF15/GOA/011 to EDB and BOF20/GOA/023 to EDB and BPL) and by the Ghent University Hospital Innovation Fund (NucleUZ to EDB). EDB (1802220N) and BPL (1803821N) are Senior Clinical Investigators of the Fund for Research, Flanders. CZ is supported by Retina France, IRP-INSERM MYOPBYNIGHT, Fondation Dalloz-Institut de France. CZ, BPL, BL, EDB, HD, IC, MP, KS, SK, LK and MR are members of the European Reference Network for Rare Eye Diseases (ERN-EYE).

    • Competing interests None declared.

    • Provenance and peer review Not commissioned; externally peer reviewed.

    • Supplemental material This content has been supplied by the author(s). It has not been vetted by BMJ Publishing Group Limited (BMJ) and may not have been peer-reviewed. Any opinions or recommendations discussed are solely those of the author(s) and are not endorsed by BMJ. BMJ disclaims all liability and responsibility arising from any reliance placed on the content. Where the content includes any translated material, BMJ does not warrant the accuracy and reliability of the translations (including but not limited to local regulations, clinical guidelines, terminology, drug names and drug dosages), and is not responsible for any error and/or omissions arising from translation and adaptation or otherwise.