{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T00:00:23Z","timestamp":1790899223629,"version":"4.1.0"},"reference-count":26,"publisher":"MDPI AG","issue":"13","license":[{"start":{"date-parts":[[2026,6,30]],"date-time":"2026-06-30T00:00:00Z","timestamp":1782777600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003443","name":"The Ministry of Education and Science of the Russian Federation","doi-asserted-by":"crossref","award":["FGFG-2026-0002"],"award-info":[{"award-number":["FGFG-2026-0002"]}],"id":[{"id":"10.13039\/501100003443","id-type":"DOI","asserted-by":"crossref"}]},{"award":["FGFG-2026-0002"],"award-info":[{"award-number":["FGFG-2026-0002"]}],"id":[{"id":"https:\/\/ror.org\/00ghqgy32","id-type":"ROR","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100006769","name":"Russian Science Foundation","doi-asserted-by":"publisher","award":["23-64-00002"],"award-info":[{"award-number":["23-64-00002"]}],"id":[{"id":"10.13039\/501100006769","id-type":"DOI","asserted-by":"publisher"}]},{"award":["23-64-00002"],"award-info":[{"award-number":["23-64-00002"]}],"id":[{"id":"https:\/\/ror.org\/03y2gwe85","id-type":"ROR","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>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 methodological feature of this study is a multi-tiered pathogenicity framework combined with estimation of a biologically plausible prevalence range: Known pathogenic variants define conservative estimates, whereas probably pathogenic variants and strong variants of uncertain significance define broader estimates. Allele frequencies were analyzed in 807,162 individuals from the gnomAD database and 144,127 Russian genomes from GDB and EvogenDB. A Bayesian framework was applied to calculate disease prevalence from aggregated carrier frequencies across predefined variant tiers. Conservative estimates based on known pathogenic variants, were 1 in 343,926 globally and 1 in 1,911,347 in Russia. Including broader tiers increased estimates to 1 in 14,620 and 1 in 32,764, respectively. Compared to previous clinically ascertained prevalence of 1 in 865,000, these estimates define a wider biologically plausible prevalence range and are consistent with possible clinical underascertainment. This tier-based approach accounts for uncertainty in variant classification when estimating rare disease prevalence.<\/jats:p>","DOI":"10.3390\/ijms27135911","type":"journal-article","created":{"date-parts":[[2026,7,1]],"date-time":"2026-07-01T00:50:37Z","timestamp":1782867037000},"page":"5911","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Bayesian Population-Based Prevalence Estimation of KCNV2-Associated Retinopathy: A Comparative Analysis of Disease-Associated Variant Frequencies in Russian and Global Populations"],"prefix":"10.3390","volume":"27","author":[{"given":"Anastasiia V.","family":"Rozhkova","sequence":"first","affiliation":[{"name":"Federal Research Center for Innovator and Emerging Biomedical and Pharmaceutical Technologies, Ministry of Science and Higher Education of the Russian Federation, 125315 Moscow, Russia"},{"name":"Moscow Center for Advanced Studies, Ministry of Science and Higher Education of the Russian Federation, 123592 Moscow, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ekaterina A.","family":"Rutkovskaya","sequence":"additional","affiliation":[{"name":"Federal Research Center for Innovator and Emerging Biomedical and Pharmaceutical Technologies, Ministry of Science and Higher Education of the Russian Federation, 125315 Moscow, Russia"},{"name":"Moscow Center for Advanced Studies, Ministry of Science and Higher Education of the Russian Federation, 123592 Moscow, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7765-3307","authenticated-orcid":false,"given":"Vitaly V.","family":"Kadyshev","sequence":"additional","affiliation":[{"name":"Federal State Budgetary Scientific Institution \u201cResearch Centre for Medical Genetics named after Academician N.P. Bochkov\u201d, Ministry of Science and Higher Education of the Russian Federation, Moskvorechye st., 1, Moscow 115522, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anton A.","family":"Esibov","sequence":"additional","affiliation":[{"name":"Federal Research Center for Innovator and Emerging Biomedical and Pharmaceutical Technologies, Ministry of Science and Higher Education of the Russian Federation, 125315 Moscow, Russia"},{"name":"Moscow Center for Advanced Studies, Ministry of Science and Higher Education of the Russian Federation, 123592 Moscow, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9698-0634","authenticated-orcid":false,"given":"Almaqdad","family":"Alsalloum","sequence":"additional","affiliation":[{"name":"Federal Research Center for Innovator and Emerging Biomedical and Pharmaceutical Technologies, Ministry of Science and Higher Education of the Russian Federation, 125315 Moscow, Russia"},{"name":"Moscow Center for Advanced Studies, Ministry of Science and Higher Education of the Russian Federation, 123592 Moscow, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ekaterina S.","family":"Kuznetsova","sequence":"additional","affiliation":[{"name":"Federal Research Center for Innovator and Emerging Biomedical and Pharmaceutical Technologies, Ministry of Science and Higher Education of the Russian Federation, 125315 Moscow, Russia"},{"name":"Moscow Center for Advanced Studies, Ministry of Science and Higher Education of the Russian Federation, 123592 Moscow, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julia A.","family":"Krupinova","sequence":"additional","affiliation":[{"name":"Federal Research Center for Innovator and Emerging Biomedical and Pharmaceutical Technologies, Ministry of Science and Higher Education of the Russian Federation, 125315 Moscow, Russia"},{"name":"Moscow Center for Advanced Studies, Ministry of Science and Higher Education of the Russian Federation, 123592 Moscow, Russia"},{"name":"State Budgetary Institution of Healthcare Moscow Clinical Scientific and Practical Center named after A.S. Loginov Moscow City Health Department, Novogireevskaya st., bldg. 1, Moscow 111123, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9252-1601","authenticated-orcid":false,"given":"Olga N.","family":"Mityaeva","sequence":"additional","affiliation":[{"name":"Federal Research Center for Innovator and Emerging Biomedical and Pharmaceutical Technologies, Ministry of Science and Higher Education of the Russian Federation, 125315 Moscow, Russia"},{"name":"Moscow Center for Advanced Studies, Ministry of Science and Higher Education of the Russian Federation, 123592 Moscow, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0568-6593","authenticated-orcid":false,"given":"Kristina K.","family":"Shefer","sequence":"additional","affiliation":[{"name":"Federal State Autonomous Institution \u201cNational Medical Research Center for Eye Microsurgery named after Academician S.N. Fyodorov\u201d of the Ministry of Health of the Russian Federation, Saint Petersburg Branch, Yaroslav Gashek Str. 21, 192283 St. Petersburg, Russia"},{"name":"Ophthalmology Department of North-Western State Medical University named after I.I. Mechnikov, Kirochnaya Str. 41, 191015 Saint-Petersburg, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ernest V.","family":"Boiko","sequence":"additional","affiliation":[{"name":"Federal State Autonomous Institution \u201cNational Medical Research Center for Eye Microsurgery named after Academician S.N. Fyodorov\u201d of the Ministry of Health of the Russian Federation, Saint Petersburg Branch, Yaroslav Gashek Str. 21, 192283 St. Petersburg, Russia"},{"name":"Ophthalmology Department of North-Western State Medical University named after I.I. Mechnikov, Kirochnaya Str. 41, 191015 Saint-Petersburg, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olesya V.","family":"Sagaydak","sequence":"additional","affiliation":[{"name":"National Medical Research Center of Cardiology named after Academician E.I. Chazov, 121552 Moscow, Russia"},{"name":"Evogen LLC, 115191 Moscow, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Natalya A.","family":"Doroshchuk","sequence":"additional","affiliation":[{"name":"National Medical Research Center of Cardiology named after Academician E.I. Chazov, 121552 Moscow, Russia"},{"name":"Evogen LLC, 115191 Moscow, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1581-9118","authenticated-orcid":false,"given":"Maria V.","family":"Makarova","sequence":"additional","affiliation":[{"name":"Evogen LLC, 115191 Moscow, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mary","family":"Woroncow","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, Lomonosov Moscow State University, Leninskie Gory 1, 119991 Moscow, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6377-9056","authenticated-orcid":false,"given":"Viktor P.","family":"Bogdanov","sequence":"additional","affiliation":[{"name":"Federal Research Center for Innovator and Emerging Biomedical and Pharmaceutical Technologies, Ministry of Science and Higher Education of the Russian Federation, 125315 Moscow, Russia"},{"name":"Moscow Center for Advanced Studies, Ministry of Science and Higher Education of the Russian Federation, 123592 Moscow, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9794-6297","authenticated-orcid":false,"given":"Pavel Y.","family":"Volchkov","sequence":"additional","affiliation":[{"name":"Federal Research Center for Innovator and Emerging Biomedical and Pharmaceutical Technologies, Ministry of Science and Higher Education of the Russian Federation, 125315 Moscow, Russia"},{"name":"Moscow Center for Advanced Studies, Ministry of Science and Higher Education of the Russian Federation, 123592 Moscow, Russia"},{"name":"State Budgetary Institution of Healthcare Moscow Clinical Scientific and Practical Center named after A.S. Loginov Moscow City Health Department, Novogireevskaya st., bldg. 1, Moscow 111123, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2026,6,30]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"751","DOI":"10.1167\/iovs.07-0471","article-title":"Cone Dystrophy with Supernormal Rod Response Is Strictly Associated with Mutations in KCNV2","volume":"49","author":"Wissinger","year":"2008","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"574","DOI":"10.1086\/507568","article-title":"Mutations in the Gene KCNV2 Encoding a Voltage-Gated Potassium Channel Subunit Cause \u201cCone Dystrophy with Supernormal Rod Electroretinogram\u201d in Humans","volume":"79","author":"Wu","year":"2006","journal-title":"Am. J. Hum. 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