{
  "abstract": "Introduction Congenital Stationary Night Blindness (CSNB) comprises non-progressive retinal disorders causing impaired night vision due to disrupted retinal signalling. While genetic causes are known, associated visual features remain undercharacterised. The role of myopia control in CSNB is unclear. This study examines associations between CSNB subtypes and foveal hypoplasia (FH), nystagmus, and myopia, and explores links between myopia severity, genotype, and age.Methods We analysed 199 patients with confirmed CSNB from five centres, n=89, and the literature, n=110. Diagnoses were based on ERG and/or genetic testing, classifying cases as incomplete CSNB (iCSNB; CACNA1F) or complete CSNB (cCSNB; NYX and others). Clinical features were recorded, and FH graded using standardised OCT criteria. Chi-squared tests and a generalised linear model (GLM) were used for analysis.Results FH was present in 34.6% of cases, significantly more in iCSNB than cCSNB (χ²=9.05, p=0.026), and always low-grade. Nystagmus occurred in 64% overall, with higher prevalence in the NYX subgroup (85%) than CACNA1F (65%). Visual acuity did not differ between groups. Myopia was significantly worse in cCSNB (median difference = –2.75 D, p=0.0062), with no significant age interaction in the GLM.Conclusions This study links CSNB genotypes to distinct clinical features, improving understanding of phenotype-genotype correlations. FH and nystagmus patterns differ by genetic subtype, supporting genotype-based prognosis and management. Although myopia was more severe in cCSNB, refractive error appeared stable with age, suggesting a cautious approach to myopia control. Longitudinal studies are needed to clarify myopia progression in CSNB.",
  "authors": [
    {
      "affiliations": [
        "Department of Psychology and Vision Sciences, University of Leicester, Leicester, UK"
      ],
      "name": "Vanessa Rodwell"
    },
    {
      "affiliations": [
        "Department of Psychology and Vision Sciences, University of Leicester, Leicester, UK"
      ],
      "name": "Rebecca McLean"
    },
    {
      "affiliations": [
        "Department of Psychology and Vision Sciences, University of Leicester, Leicester, UK"
      ],
      "name": "Michael Hisaund"
    },
    {
      "affiliations": [
        "Department of Psychology and Vision Sciences, University of Leicester, Leicester, UK"
      ],
      "name": "George Garratt"
    },
    {
      "affiliations": [
        "Institut de la vision, Paris, Île-de-France, France"
      ],
      "name": "Jinu Han"
    },
    {
      "affiliations": [
        "Yonsei University College of Medicine, Seodaemun-gu, Seoul, Korea (the Republic of)"
      ],
      "name": "Vasily Smirnov"
    },
    {
      "affiliations": [
        "Ophthalmology, University of Southampton, Southampton, UK"
      ],
      "name": "Richard Hertle"
    },
    {
      "affiliations": [
        "Centre Hospitalier Universitaire de Lille, Lille, Hauts-de-France, France"
      ],
      "name": "James Self"
    },
    {
      "affiliations": [
        "Ophthalmology, Lions Eye Institute, Nedlands, WA, Australia"
      ],
      "name": "Fred Chen"
    },
    {
      "affiliations": [
        "Department of Psychology and Vision Sciences, University of Leicester, Leicester, UK"
      ],
      "name": "Gail Maconachie"
    },
    {
      "affiliations": [
        "Department of Psychology and Vision Sciences, University of Leicester, Leicester, UK"
      ],
      "name": "Zhanhan Tu"
    },
    {
      "affiliations": [
        "Ophthalmology, Akron Children’s Hospital, Akron, OH, USA"
      ],
      "name": "Christina Zeitz"
    },
    {
      "affiliations": [
        "Department of Psychology and Vision Sciences, University of Leicester, Leicester, UK"
      ],
      "name": "Irene Gottlob"
    },
    {
      "affiliations": [
        "Department of Psychology and Vision Sciences, University of Leicester, Leicester, UK"
      ],
      "name": "Mervyn G Thomas"
    }
  ],
  "title": "#ECR-Poster-08 Phenotypic spectrum of congenital stationary night blindness: associations with foveal hypoplasia",
  "uid": "fb960783-ad35-5ecb-94be-a248a80449db"
}