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

Austin D. Igelman, Elizabeth White, Alaa Tayyib, Lesley Everett, Ajoy Vincent, Elise Heon, Christina Zeitz, Michel Michaelides, Omar A. Mahroo, Mohamed Katta, Andrew Webster, Markus Preising, Birgit Lorenz, Samer Khateb, Eyal Banin, Dror Sharon, Shahar Luski, Filip Van Den Broeck, Bart Peter Leroy, Elfride De BaereSophie Walraedt, Katarina Stingl, Laura Kuehlewein, Susanne Kohl, Milda Reith, Anne Fulton, Aparna Raghuram, Isabelle Meunier, Hélène Dollfus, Tomas S. Aleman, Emma C. Bedoukian, Erin C. O'neil, Emily Krauss, Andrea Vincent, Charlotte Jordan, Alessandro Iannaccone, Parveen Sen, Srilekha Sundaramurthy, Soumittra Nagasamy, Irina Balikova, Ingele Casteels, Shyamanga Borooah, Shaden Yassin, Aaron Nagiel, Hillary Schwartz, Xavier Zanlonghi, Irene Gottlob, Rebecca J. Mclean, Francis L. Munier, Andrew Stephenson, Robert Sisk, Robert Koenekoop, Lorri B. Wilson, Douglas Fredrick, Dongseok Choi, Paul Yang, Mark Edward Pennesi*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

2 Scopus citations

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.

Original languageEnglish
Article number759767
JournalBritish Journal of Ophthalmology
DOIs
StateAccepted/In press - 2024
Externally publishedYes

Bibliographical note

Publisher Copyright:
© Author(s).

Keywords

  • child health (paediatrics)
  • genetics

Fingerprint

Dive into the research topics of 'Characterising the refractive error in paediatric patients with congenital stationary night blindness: a multicentre study'. Together they form a unique fingerprint.

Cite this