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We conducted a case-control cross-sectional prospective electrophysiological study in genetically characterized Myopia-26 patients (\n                      <jats:italic>ARR3<\/jats:italic>\n                      heterozygous symptomatic females) compared with high myopes harboring intact\n                      <jats:italic>ARR3<\/jats:italic>\n                      alleles and one carrier hemizygous male.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Participants were 26 volunteers: 10 healthy control females (E-CTRL, mean age\u2009=\u200931.5\u2009\u00b1\u20098.8 years), one healthy control male, one carrier male of the mutant\n                      <jats:italic>ARR3<\/jats:italic>\n                      allele and 14 female eoHM patients (mean age\u2009=\u200927.0\u2009\u00b1\u200913.1 years) divided in two groups: seven without (M-CTRL) and seven with (MYP-26) genetic alteration in the\n                      <jats:italic>ARR3<\/jats:italic>\n                      gene. The clinical evaluation included complete eye screening and full-field electroretinograms (ERGs) recorded from both eyes under mydriasis. Spherical equivalent was comparable (mean=-9.55\u2009\u00b1\u20092.46 and \u2212\u200910.25\u2009\u00b1\u20093.22 for M-CTRL and MYP-26, respectively) and best corrected visual acuity (BCVA) was significantly different between M-CTRL and MYP-26 (1.0 vs. 0.406\u2009\u00b1\u20090.253, respectively). E-CTRL and M-CTRL showed similar light-adapted flash and flicker ERG amplitudes; however, the prior values were reduced by ~\u200935% (a- and b-waves alike), the latter by ~\u200955% in the MYP-26 group (F\n                      <jats:sub>(2, 45)<\/jats:sub>\n                      \u2009&gt;\u200921.821,\n                      <jats:italic>p<\/jats:italic>\n                      \u2009&lt;\u20090.00001). Dark-adapted a-wave amplitudes were slightly reduced (by ~\u200920%) in all myopic patients compared to E-CTRL, irrespective of the\n                      <jats:italic>ARR3<\/jats:italic>\n                      genotype (E-CTRL vs. eoHM,\n                      <jats:italic>p<\/jats:italic>\n                      \u2009=\u20090.038).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      The cone dysfunction observed in Myopia-26 patients is specifically linked to the mutation of\n                      <jats:italic>ARR3<\/jats:italic>\n                      , and is not the consequence of eoHM, i.e. elongation of the eye. It may play a role in myopic refractive error development through a yet unconfirmed pathomechanism.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1186\/s13023-024-03390-9","type":"journal-article","created":{"date-parts":[[2024,10,17]],"date-time":"2024-10-17T11:03:35Z","timestamp":1729163015000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Cone dysfunction in ARR3-mutation-associated early-onset high myopia: an electrophysiological study"],"prefix":"10.1186","volume":"19","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9318-3640","authenticated-orcid":false,"given":"Tam\u00e1s","family":"Feh\u00e9r","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"No\u00e9mi","family":"Sz\u00e9ll","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Istv\u00e1n","family":"Nagy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zolt\u00e1n","family":"Mar\u00f3ti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tibor","family":"Kalm\u00e1r","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zolt\u00e1n","family":"Sohajda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mirella T. 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This study was approved by the National Scientific and Research Ethics Committee of the Medical Research Council of Hungary (ETT TUKEB, registration number 58542-1\/2017\/EKU). All procedures performed in studies involving human participants were in accordance with the ethical standards of the National Scientific and Research Ethics Committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Obtained.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"IN is an employee of Seqomics Biotechnologies Ltd. IN is an investor of Seqomics Biotechnologies Ltd.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"385"}}