ArticleInternational journal of ophthalmology2026
Genotype-phenotype correlations in Chinese patients with congenital stationary night blindness and early-onset high myopia: evidence from electrophysiology and whole-exome sequencing.
Article in International journal of ophthalmology, 2026. 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
aimTo identify pathogenic variants in families with congenital stationary night blindness (CSNB) accompanied by early-onset high myopia (eoHM) using whole-exome sequencing (WES), and to evaluate the clinical value of electrophysiological and genetic testing for the differential diagnosis of CSNB, which is frequently misdiagnosed as amblyopia.
methodsThe study cohort comprised families clinically diagnosed with eoHM. Probands and available family members underwent comprehensive ophthalmic examinations. Pathogenic variants were identified
resultsAmong 42 families with eoHM, five were identified with CSNB. The probands aged 2-5y, with spherical equivalents (SE) ranging from -6.00 to -11.00 D and best-corrected visual acuity (BCVA) between 0.15 and 0.6. No organic ocular abnormalities were observed. Initially diagnosed as high myopia and refractive amblyopia, they received optical correction and amblyopia therapy. Electroretinogram (ERG) revealed diminished rod responses and a negative waveform under dark-adapted 3.0 ERG conditions. Seven pathogenic variants were identified in
conclusionThis study reveals marked genetic and clinical heterogeneity in CSNB-related eoHM.
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