{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,9]],"date-time":"2026-03-09T14:56:59Z","timestamp":1773068219815,"version":"3.50.1"},"reference-count":29,"publisher":"Springer Science and Business Media LLC","issue":"3","license":[{"start":{"date-parts":[[2013,2,14]],"date-time":"2013-02-14T00:00:00Z","timestamp":1360800000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Ophthalmic Physiologic Optic"],"published-print":{"date-parts":[[2013,5]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Purpose<\/jats:title>\n                    <jats:p>\n                      Myopia is a complex eye disorder. The X\u2010linked form of complete congenital stationary night blindness (\n                      <jats:styled-content style=\"fixed-case\">CSNB<\/jats:styled-content>\n                      1A) is usually associated with moderate to high myopia, and is caused by mutations in the\n                      <jats:italic>\n                        <jats:styled-content style=\"fixed-case\">NYX<\/jats:styled-content>\n                      <\/jats:italic>\n                      gene. We explored if\n                      <jats:italic>\n                        <jats:styled-content style=\"fixed-case\">NYX<\/jats:styled-content>\n                      <\/jats:italic>\n                      mutations could be associated with high myopia, but not\n                      <jats:styled-content style=\"fixed-case\">CSNB<\/jats:styled-content>\n                      1A.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      The coding regions of the\n                      <jats:italic>\n                        <jats:styled-content style=\"fixed-case\">NYX<\/jats:styled-content>\n                      <\/jats:italic>\n                      gene were sequenced for 204 Chinese males with high myopia (\u22128.00 dioptres or worse for both eyes). The frequencies of any sequence variations identified were determined in 200 Chinese males without myopia. Electro\u2010oculography, electroretinography and standard cone function tests were performed on a male high myope carrying a mutation.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      A missense mutation (c.529_530\n                      <jats:styled-content style=\"fixed-case\">GC<\/jats:styled-content>\n                      &gt;\n                      <jats:styled-content style=\"fixed-case\">AT<\/jats:styled-content>\n                      or p.Ala177Met) was identified in one male subject with high myopia, but not in 200 male emmetropes. Neither was this variant found in any of the 529 male and 567 female subjects of various ethnic backgrounds whose genome sequences are documented in the 1000 Genomes Project database. The mutation was predicted to affect the protein function. From ocular electrophysiological tests, the proband was found to have normal rod function, but mildly abnormal cone function and inner retina function. He did not seem to suffer from\n                      <jats:styled-content style=\"fixed-case\">CSNB<\/jats:styled-content>\n                      1A.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      One novel missense\n                      <jats:italic>\n                        <jats:styled-content style=\"fixed-case\">NYX<\/jats:styled-content>\n                      <\/jats:italic>\n                      mutation was identified in an adult male presented with high myopia, but without the major electrophysiological features normally associated with\n                      <jats:styled-content style=\"fixed-case\">CSNB<\/jats:styled-content>\n                      1A.\n                      <jats:italic>\n                        <jats:styled-content style=\"fixed-case\">NYX<\/jats:styled-content>\n                      <\/jats:italic>\n                      gene mutations may be considered as one of the rare genetic risk factors for high myopia without key features of\n                      <jats:styled-content style=\"fixed-case\">CSNB<\/jats:styled-content>\n                      1A.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/opo.12036","type":"journal-article","created":{"date-parts":[[2013,2,14]],"date-time":"2013-02-14T01:23:12Z","timestamp":1360804992000},"page":"346-353","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":21,"title":["A novel missense mutation in the\n                    <i>\n                      <scp>NYX<\/scp>\n                    <\/i>\n                    gene associated with high myopia"],"prefix":"10.1007","volume":"33","author":[{"given":"Shea Ping","family":"Yip","sequence":"first","affiliation":[{"name":"Department of Health Technology and Informatics The Hong Kong Polytechnic University Hong Kong SAR China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Choi Chu","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Health Technology and Informatics The Hong Kong Polytechnic University Hong Kong SAR China"},{"name":"Centre for Myopia Research, School of Optometry The Hong Kong Polytechnic University Hong Kong SAR China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wai Chi","family":"Yiu","sequence":"additional","affiliation":[{"name":"Department of Health Technology and Informatics The Hong Kong Polytechnic University Hong Kong SAR China"},{"name":"Centre for Myopia Research, School of Optometry The Hong Kong Polytechnic University Hong Kong SAR China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wing Hong","family":"Hung","sequence":"additional","affiliation":[{"name":"Department of Health Technology and Informatics The Hong Kong Polytechnic University Hong Kong SAR China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wai Wa","family":"Lam","sequence":"additional","affiliation":[{"name":"Department of Health Technology and Informatics The Hong Kong Polytechnic University Hong Kong SAR China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Man Chi","family":"Lai","sequence":"additional","affiliation":[{"name":"Department of Health Technology and Informatics The Hong Kong Polytechnic University Hong Kong SAR China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Po Wah","family":"Ng","sequence":"additional","affiliation":[{"name":"Department of Health Technology and Informatics The Hong Kong Polytechnic University Hong Kong SAR China"},{"name":"Centre for Myopia Research, School of Optometry The Hong Kong Polytechnic University Hong Kong SAR China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wai Yan","family":"Fung","sequence":"additional","affiliation":[{"name":"Department of Health Technology and Informatics The Hong Kong Polytechnic University Hong Kong SAR China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patrick HW","family":"Chu","sequence":"additional","affiliation":[{"name":"Centre for Myopia Research, School of Optometry The Hong Kong Polytechnic University Hong Kong SAR China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bo","family":"Jiang","sequence":"additional","affiliation":[{"name":"Department of Health Technology and Informatics The Hong Kong Polytechnic University Hong Kong SAR China"},{"name":"Centre for Myopia Research, School of Optometry The Hong Kong Polytechnic University Hong Kong SAR China"},{"name":"Department of Ophthalmology, The First Affiliated hospital, College of Medicine Zhejiang University Hangzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Henry HL","family":"Chan","sequence":"additional","affiliation":[{"name":"Centre for Myopia Research, School of Optometry The Hong Kong Polytechnic University Hong Kong SAR China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maurice KH","family":"Yap","sequence":"additional","affiliation":[{"name":"Centre for Myopia Research, School of Optometry The Hong Kong Polytechnic University Hong Kong SAR China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2013,2,14]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1475-1313.2011.00884.x"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1001\/archopht.125.1.38"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1444-0938.2007.00181.x"},{"key":"e_1_2_7_5_1","unstructured":"National Centre for Biotechnology Information (NCBI).http:\/\/www.ncbi.nlm.nih.gov\/accessed 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