{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T22:56:03Z","timestamp":1790549763813,"version":"4.1.0"},"reference-count":41,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T00:00:00Z","timestamp":1790553600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Genet."],"abstract":"<jats:sec>\n                    <jats:title>Purpose<\/jats:title>\n                    <jats:p>\n                      Biallelic\n                      <jats:italic>EYS<\/jats:italic>\n                      variants are one of the frequent causes of autosomal recessive inherited retinal disease worldwide, yet the\n                      <jats:italic>EYS<\/jats:italic>\n                      mutational landscape of Eastern European and Northern Asian populations has not been systematically described. We characterized the molecular and clinical spectrum of\n                      <jats:italic>EYS<\/jats:italic>\n                      -associated retinitis pigmentosa (RP) in this population.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      Thirty-nine patients with confirmed biallelic\n                      <jats:italic>EYS<\/jats:italic>\n                      variants were selected from 500 patients enrolled in the prospective inherited retinal disease genotyping clinical trial (NCT03901391). All patients underwent whole exome sequencing with copy number\/structural variant analysis and standardized ophthalmic phenotyping, including best corrected visual acuity (BCVA), slit lamp biomicroscopy, refractometry, perimetry, optical coherent tomography (OCT), fundus autofluorescence (FAF), ophthalmoscopy and electroretinogram (ERG).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      We identified 34 distinct\n                      <jats:italic>EYS<\/jats:italic>\n                      variants: 22 pathogenic, 8 likely pathogenic, and 4 variants of uncertain significance by American College of Medical Genetics (ACMG) criteria. Fifteen variants were novel, including eight structural deletions. Two recurrent alleles c.1155T&amp;gt;A (p.Cys385*) in 16 (20.3%) alleles, and c.8648_8655del (p.Thr2883Lysfs*4) in 15 (19.0%) alleles were the most frequent; together they accounted for 39.2% of alleles, with relatedness analysis supporting a shared founder origin. Median age of disease manifestation was 18 years and median BCVA 0.16 logMAR; worse acuity correlated with older age (rank correlation coefficient = 0.34, p = 0.035).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      This first description of the\n                      <jats:italic>EYS<\/jats:italic>\n                      spectrum in an Eastern European and Northern Asian cohort expands the allelic diversity of the gene, provides a genotype-phenotype description and defines two population-specific founder alleles amenable to targeted screening and future treatment.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.3389\/fgene.2026.1951476","type":"journal-article","created":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T22:10:10Z","timestamp":1790547010000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["The mutational and clinical spectrum of EYS-associated retinitis pigmentosa in an Eastern European and Northern Asian cohort: two recurrent founder alleles"],"prefix":"10.3389","volume":"17","author":[{"given":"Marianna","family":"Weener","sequence":"first","affiliation":[{"name":"Ocular Genomics Institute, Massachusetts Eye and Ear, Harvard Medical School","place":["Boston, MA, United States"]},{"name":"Oftalmic Clinical Research Center","place":["Moscow, Russia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Igor","family":"Hatsenko","sequence":"additional","affiliation":[{"name":"Morozovskaya Children\u2019s City Clinical Hospital","place":["Moscow, Russia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Inna","family":"Zolnikova","sequence":"additional","affiliation":[{"name":"Helmholtz National Medical Research Center of Eye Diseases","place":["Moscow, Russia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Natella","family":"Chincharauli","sequence":"additional","affiliation":[{"name":"I.M. Sechenov First Moscow State Medical University","place":["Moscow, Russia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Shilova","sequence":"additional","affiliation":[{"name":"Ophthalmology Clinic of Dr. Shilova","place":["Moscow, Russia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Venger","sequence":"additional","affiliation":[{"name":"EYS Patients Advocacy Group","place":["Moscow, Russia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olga","family":"Luneva","sequence":"additional","affiliation":[{"name":"EYS Patients Advocacy Group","place":["Moscow, Russia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Larisa","family":"Balashova","sequence":"additional","affiliation":[{"name":"Pirogov Russian National Research Medical University","place":["Moscow, Russia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean","family":"Salmasi","sequence":"additional","affiliation":[{"name":"Pirogov Russian National Research Medical University","place":["Moscow, Russia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gennadiy","family":"Poryadin","sequence":"additional","affiliation":[{"name":"Pirogov Russian National Research Medical University","place":["Moscow, Russia"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2026,9,28]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"1285","DOI":"10.1038\/ng.241","article-title":"EYS, encoding an ortholog of drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosa","volume":"40","author":"Abd El-Aziz","year":"2008","journal-title":"Nat. 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