Congenital stationary night blindness linked to early and worsening myopia

Individuals with congenital stationary night blindness (CSNB) show early and significant progression of myopia, according to a study. The research highlights the need for potential long-term interventions to slow myopia progression in these patients and suggests that CSNB should be considered in the diagnosis of early-onset myopia.

The multicenter, retrospective study included 78 participants with CSNB caused by variants in the CACNA1F, NYX, or TRPM1 genes. Data from at least 6 measurements of spherical equivalent refraction (SER) taken before age 18 were analyzed.

A mixed-effect model to track SER progression over time and evaluate differences between genotypes was used.

Results revealed that all 3 genotypes—CACNA1F, NYX, and TRPM1—demonstrated significant myopic SER at birth, with initial values of -3.076D, -5.511D, and -5.386D, respectively. Furthermore, myopia progression was notable across all genotypes, with annual increases of -0.254D, -0.257D, and -0.326D.

The study also emphasizes the need to consider CSNB in the differential diagnosis for early-onset myopia and calls for further research into effective management strategies.

Reference
Igelman AD, White E, Tayyib A, et al. Characterising the refractive error in paediatric patients with congenital stationary night blindness: a multicentre study. Br J Ophthalmol. 2024;bjo-2023-323747. doi: 10.1136/bjo-2023-323747. Epub ahead of print. PMID: 39079892.