Article
Bayesian Population-Based Prevalence Estimation of KCNV2-Associated Retinopathy: A Comparative Analysis of Disease-Associated Variant Frequencies in Russian and Global Populations.
International journal of molecular sciences - 30 Jun 2026
Rozhkova Anastasiia V, Rutkovskaya Ekaterina A, Kadyshev Vitaly V, Esibov Anton A, Alsalloum Almaqdad, Kuznetsova Ekaterina S, Krupinova Julia A, Mityaeva Olga N, Shefer Kristina K, Boiko Ernest V, Sagaydak Olesya V, Doroshchuk Natalya A, Makarova Maria V, Woroncow Mary, Bogdanov Viktor P, Volchkov Pavel Y
Abstract excerpt
Cone dystrophy with supernormal rod responses (CDSRR) is a rare autosomal recessive hereditary retinal dystrophy caused by biallelic KCNV2 variants. Accurate prevalence data remain limited because current estimates rely on clinically ascertained cases. This study aimed to estimate its population prevalence by integrating curated variant evidence and large-scale population genomics resources. The key...
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