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

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 (S

SUBMITTER: Igelman AD 

PROVIDER: S-EPMC11774682 | biostudies-literature | 2025 Jan

REPOSITORIES: biostudies-literature