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

Austin D Igelman¹, Elizabeth White¹, Alaa Tayyib², Lesley Everett³, Ajoy Vincent^{4

5}, Elise Heon^{4

5}, Christina Zeitz⁶, Michel Michaelides^{7

8}, Omar A Mahroo^{8

9}, Mohamed Katta⁷, Andrew Webster⁷, Markus Preising¹⁰, Birgit Lorenz¹¹, Samer Khateb¹², Eyal Banin¹², Dror Sharon¹², Shahar Luski¹², Filip Van Den Broeck¹³, Bart Peter Leroy¹⁴, Elfride De Baere¹⁵, Sophie Walraedt¹⁶, Katarina Stingl¹⁷, Laura Kuehlewein¹⁷, Susanne Kohl¹⁸, Milda Reith^{17

18}, Anne Fulton¹⁹, Aparna Raghuram^{20

21}, Isabelle Meunier²², Hélène Dollfus²³, Tomas S Aleman²⁴, Emma C Bedoukian²⁵, Erin C O'Neil^{24

25}, Emily Krauss²⁵, Andrea Vincent²⁶, Charlotte Jordan²⁶, Alessandro Iannaccone^{27

28

29}, Parveen Sen³⁰, Srilekha Sundaramurthy^{31

32}, Soumittra Nagasamy³¹, Irina Balikova³³, Ingele Casteels³⁴, Shyamanga Borooah³⁵, Shaden Yassin³⁵, Aaron Nagiel³⁶, Hillary Schwartz³⁷, Xavier Zanlonghi³⁸, Irene Gottlob³⁹, Rebecca J McLean⁴⁰, Francis L Munier⁴¹, Andrew Stephenson⁴², Robert Sisk⁴³, Robert Koenekoop⁴⁴, Lorri B Wilson¹, Douglas Fredrick⁴⁵, Dongseok Choi⁴⁶, Paul Yang¹, Mark Edward Pennesi^{47

48}

Affiliations

¹ Oregon Health and Science University Casey Eye Institute, Portland, Oregon, USA.
² The Hospital for Sick Children, Toronto, Ontario, Canada.
³ Oregon Health & Science University, Portland, Oregon, USA.
⁴ Ophthalmology and Vision Sciences, University of Toronto, Toronto, Ontario, Canada.
⁵ Ophthalmology and Vision Sciences, The Hospital for Sick Children, Toronto, Ontario, Canada.
⁶ Institut de la Vision, Sorbonne Université, INSERM, CNRS, Paris, France.
⁷ Moorfields Eye Hospital, London, UK.
⁸ Institute of Ophthalmology, University College London, London, UK.
⁹ Medical Retina Service, Moorfields Eye Hospital NHS Foundation Trust, London, UK.
¹⁰ Ophthalmology, Justus-Liebig Universität, Giessen, Germany.
¹¹ Ophthalmology, Justus-Liebig-University,Universitätsklinikum Gießen und Marburg GmbH, Giessen campus, Giessen, Germany.
¹² Department of Ophthalmology, Hadassah Hebrew University Hospital, Jerusalem, Israel.
¹³ Ghent University Department of Ophthalmology, Gent, Belgium.
¹⁴ Department of Ophthalmology and Ctr for Med Genetics, Ghent University Hospital, Ghent, Belgium.
¹⁵ Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
¹⁶ Department of Ophthalmology, Ghent University, Gent, Belgium.
¹⁷ University Eye Hospital, Center for Ophthalmology, University of Tuebingen, Tuebingen, Germany.
¹⁸ Molecular Genetics Laboratory, Institute for Ophthalmic Research, University of Tübingen, Tübingen, Germany.
¹⁹ Boston Children's Hospital, Boston, Massachusetts, USA.
²⁰ Ophthalmology, Boston Children's Hospital, Boston, Massachusetts, USA.
²¹ Harvard Medical School, Boston, Massachusetts, USA.
²² Ophthalmology, Reference Centre for Genetic Sensory diseases, University Hospital Centre Montpellier, Montpellier, France.
²³ Centre des affections rares en génétique ophtalmologique, CHU de Strasbourg, Strasbourg, France.
²⁴ Ophthalmology, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.
²⁵ Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
²⁶ Ophthalmology, Auckland University, Auckland, New Zealand.
²⁷ Duke University, Durham, North Carolina, USA.
²⁸ Kittner Eye Center, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.
²⁹ Cell and Gene Therapies, Ophthalmology, Astellas Pharma US, Northbrook, Illinois, USA.
³⁰ Shri Bhagwan Mahavir Vitreoretinal services, Sankara Nethralaya, Chennai, Tamil Nadu, India.
³¹ SN ONGC Department of Genetcis and Molecular Biology, Vision Research Foundation, Chennai, Tamil Nadu, India.
³² Department of Vitreo-Retinal Services, Medical Research Foundation, Chennai, Tamil Nadu, India.
³³ Department of Ophthalmology, University Hospital Leuven, Leuven, Belgium.
³⁴ Ophthalmology, Leuven University, Leuven, Belgium.
³⁵ University of California San Diego, La Jolla, California, USA.
³⁶ USC Keck School of Medicine, Los Angeles, California, USA.
³⁷ Children's Hospital Los Angeles, Los Angeles, California, USA.
³⁸ Department of Ophthalmology, University Hospital Centre Rennes, Rennes, France.
³⁹ Ophthalmology Group, University of Leicester, Leicester, Leics, UK.
⁴⁰ Ulverscroft Eye Unit, University of Leicester, Leicester, UK.
⁴¹ Ophthalmology, Jules Gonin Eye Hospital, Lausanne, Switzerland.
⁴² University of Cincinnati College of Medicine, Cincinnati, Ohio, USA.
⁴³ Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.
⁴⁴ McGill Univ Health Centre, Montreal, Québec, Canada.
⁴⁵ Department of Ophthalmology, Kaiser Permanente, Daly City, California, USA.
⁴⁶ OHSU-PSU School of Public Health, Oregon Health & Science University, Portland, Oregon, USA.
⁴⁷ Oregon Health and Science University Casey Eye Institute, Portland, Oregon, USA pennesim@ohsu.edu.
⁴⁸ Retina Foundation of the Southwest, Dallas, Texas, USA.

PMID: 39079892
PMCID: PMC11774682 (available on 2026-01-28)
DOI: 10.1136/bjo-2023-323747

Multicenter Study

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

Austin D Igelman et al. Br J Ophthalmol. 2025.

. 2025 Jan 28;109(2):286-292.

doi: 10.1136/bjo-2023-323747.

Authors

Affiliations

¹ Oregon Health and Science University Casey Eye Institute, Portland, Oregon, USA.
² The Hospital for Sick Children, Toronto, Ontario, Canada.
³ Oregon Health & Science University, Portland, Oregon, USA.
⁴ Ophthalmology and Vision Sciences, University of Toronto, Toronto, Ontario, Canada.
⁵ Ophthalmology and Vision Sciences, The Hospital for Sick Children, Toronto, Ontario, Canada.
⁶ Institut de la Vision, Sorbonne Université, INSERM, CNRS, Paris, France.
⁷ Moorfields Eye Hospital, London, UK.
⁸ Institute of Ophthalmology, University College London, London, UK.
⁹ Medical Retina Service, Moorfields Eye Hospital NHS Foundation Trust, London, UK.
¹⁰ Ophthalmology, Justus-Liebig Universität, Giessen, Germany.
¹¹ Ophthalmology, Justus-Liebig-University,Universitätsklinikum Gießen und Marburg GmbH, Giessen campus, Giessen, Germany.
¹² Department of Ophthalmology, Hadassah Hebrew University Hospital, Jerusalem, Israel.
¹³ Ghent University Department of Ophthalmology, Gent, Belgium.
¹⁴ Department of Ophthalmology and Ctr for Med Genetics, Ghent University Hospital, Ghent, Belgium.
¹⁵ Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
¹⁶ Department of Ophthalmology, Ghent University, Gent, Belgium.
¹⁷ University Eye Hospital, Center for Ophthalmology, University of Tuebingen, Tuebingen, Germany.
¹⁸ Molecular Genetics Laboratory, Institute for Ophthalmic Research, University of Tübingen, Tübingen, Germany.
¹⁹ Boston Children's Hospital, Boston, Massachusetts, USA.
²⁰ Ophthalmology, Boston Children's Hospital, Boston, Massachusetts, USA.
²¹ Harvard Medical School, Boston, Massachusetts, USA.
²² Ophthalmology, Reference Centre for Genetic Sensory diseases, University Hospital Centre Montpellier, Montpellier, France.
²³ Centre des affections rares en génétique ophtalmologique, CHU de Strasbourg, Strasbourg, France.
²⁴ Ophthalmology, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.
²⁵ Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
²⁶ Ophthalmology, Auckland University, Auckland, New Zealand.
²⁷ Duke University, Durham, North Carolina, USA.
²⁸ Kittner Eye Center, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.
²⁹ Cell and Gene Therapies, Ophthalmology, Astellas Pharma US, Northbrook, Illinois, USA.
³⁰ Shri Bhagwan Mahavir Vitreoretinal services, Sankara Nethralaya, Chennai, Tamil Nadu, India.
³¹ SN ONGC Department of Genetcis and Molecular Biology, Vision Research Foundation, Chennai, Tamil Nadu, India.
³² Department of Vitreo-Retinal Services, Medical Research Foundation, Chennai, Tamil Nadu, India.
³³ Department of Ophthalmology, University Hospital Leuven, Leuven, Belgium.
³⁴ Ophthalmology, Leuven University, Leuven, Belgium.
³⁵ University of California San Diego, La Jolla, California, USA.
³⁶ USC Keck School of Medicine, Los Angeles, California, USA.
³⁷ Children's Hospital Los Angeles, Los Angeles, California, USA.
³⁸ Department of Ophthalmology, University Hospital Centre Rennes, Rennes, France.
³⁹ Ophthalmology Group, University of Leicester, Leicester, Leics, UK.
⁴⁰ Ulverscroft Eye Unit, University of Leicester, Leicester, UK.
⁴¹ Ophthalmology, Jules Gonin Eye Hospital, Lausanne, Switzerland.
⁴² University of Cincinnati College of Medicine, Cincinnati, Ohio, USA.
⁴³ Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.
⁴⁴ McGill Univ Health Centre, Montreal, Québec, Canada.
⁴⁵ Department of Ophthalmology, Kaiser Permanente, Daly City, California, USA.
⁴⁶ OHSU-PSU School of Public Health, Oregon Health & Science University, Portland, Oregon, USA.
⁴⁷ Oregon Health and Science University Casey Eye Institute, Portland, Oregon, USA pennesim@ohsu.edu.
⁴⁸ Retina Foundation of the Southwest, Dallas, Texas, USA.

PMID: 39079892
PMCID: PMC11774682 (available on 2026-01-28)
DOI: 10.1136/bjo-2023-323747

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.

Keywords: child health (paediatrics); genetics.

PubMed Disclaimer

Conflict of interest statement

Competing interests: None declared.

References

1. Bird AC. Retinal photoreceptor dystrophies LI. Edward Jackson Memorial Lecture. Am J Ophthalmol 1995;119(5):543–62. - PubMed
1. Hendriks M, Verhoeven VJM, Buitendijk GHS, Polling JR, Meester-Smoor MA, Hofman A, et al. Development of Refractive Errors-What Can We Learn From Inherited Retinal Dystrophies? Am J Ophthalmol 2017;182:81–9. - PubMed
1. Williams KM, Georgiou M, Kalitzeos A, Chow I, Hysi PG, Robson AG, et al. Axial Length Distributions in Patients With Genetically Confirmed Inherited Retinal Diseases. Invest Ophthalmol Vis Sci 2022;63(6):15. - PMC - PubMed
1. Wang Y-h, Huang C, Tseng Y-l, Zhong J, Li X-m. Refractive Error and Eye Health: An Umbrella Review of Meta-Analyses. Front Med (Lausanne) 2021;8. - PMC - PubMed
1. Haarman AEG, Enthoven CA, Tideman JWL, Tedja MS, Verhoeven VJM, Klaver CCW. The Complications of Myopia: A Review and Meta-Analysis. Invest Ophthalmol Vis Sci 2020;61(4):49. - PMC - PubMed

Publication types

Actions

MeSH terms

Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions

Substances

Actions
Actions
Actions
Actions
Actions
Actions

Save citation to file

Email citation

Add to Collections

Add to My Bibliography

Your saved search

Create a file for external citation management software

Your RSS Feed

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

Affiliations

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

Authors

Affiliations

Abstract

Conflict of interest statement

References

Publication types

MeSH terms

Substances

Supplementary concepts

Grants and funding

LinkOut - more resources

Full Text Sources