ArticleInvestigative ophthalmology & visual science2025
Genetic Spectrum of Negative Electroretinograms in a Predominantly Pediatric Cohort of 177 Patients.
Article in Investigative ophthalmology & visual science, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Purpose: The purpose of this study was to elucidate the common and rare genetic causes of negative electroretinograms (nERGs) and their association with systemic disease and with myopia in a predominantly pediatric cohort. Methods: Patients underwent electroretinogram (ERG) testing at the Hospital for Sick Children (Toronto) between 2007 and 2023. Negative ERG was defined as b/a amplitude of <1 to a dark-adapted 3.0 and/or 10.0 cd*s*m-2 stimulus. Genetic testing results were reanalyzed using American College of Medical Genetics guidelines. Genes accounting for <2.5% of cases were defined as rare. Results: Of 4347 ERGs performed, 293 (6.7%) cases had nERGs. Among these, 276 (94.1%) were classified as inherited; 193 had genetic testing. Of these, 177 (91.7%) had an established genetic diagnosis involving 41 genes. Major phenotypes included congenital stationary night blindness (CSNB, 55.4%), retinoschisis (18.6%), and photoreceptor dystrophies (17.5%). Both common (CACNA1F, RS1, TRPM1, NYX, and IDUA) and rare genetic associations were identified. Among patients with CSNB, postsynaptic ON-bipolar genes were associated with high myopia, increasing refractive error by -6.12 diopters (D). Collectively, rare causes affected the same number of cases as CACNA1F, the most frequently associated gene (27.7% each). Genetic etiology varied (23 genes; 31 cases) among photoreceptor dystrophies causing nERG. Systemic disease affected 31 cases. Five novel genetic associations (ABHD12, AP3B2, OAT, PCDH15, and PDE6A) were found. Conclusions: This study expands the genetic spectrum underlying nERGs, confirming prior associations and identifying five novel genes associations. We provide evidence for the role of ON-bipolar pathway in myopia development. In photoreceptor dystrophies, nERGs rarely occur and likely represent a transient epiphenomenon independent of the underlying gene or mechanism.
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