{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T02:20:04Z","timestamp":1790389204241,"version":"4.1.0"},"reference-count":46,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2005,6,8]],"date-time":"2005-06-08T00:00:00Z","timestamp":1118188800000},"content-version":"vor","delay-in-days":7,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Acta Ophthalmologica Scandinavica"],"published-print":{"date-parts":[[2005,6]]},"abstract":"<jats:title>Abstract.<\/jats:title><jats:p><jats:bold>Purpose:\u2002<\/jats:bold>  <jats:bold>To assess the clinical picture and molecular genetics of 14 Finnish families with dominant optic atrophy (DOA).<\/jats:bold> <\/jats:p><jats:p><jats:bold>Methods:\u2002<\/jats:bold>  <jats:bold>The clinical status of family members was based on the assessment of visual acuity, colour vision, visual fields and optic nerve appearance; 31 individuals were affected, two suspect and 21 unaffected. A total of 30 coding exons and exon\u2212 intron boundaries of the <jats:italic>OPA1<\/jats:italic> gene were sequenced in order to detect mutations.<\/jats:bold> <\/jats:p><jats:p><jats:bold>Results:\u2002<\/jats:bold>  <jats:bold>Half the patients were diagnosed at the age of \u2264\u200a20\u2003years. Ten out of 20 affected individuals followed up for \u2265\u200a6\u2003years had a progressive disease and 10 had a stable disease. According to WHO criteria, 36% of the affected patients were visually handicapped. Eight <jats:italic>OPA1<\/jats:italic> pathogenic mutations, all but one novel, and 18 neutral polymorphisms were detected.<\/jats:bold> <\/jats:p><jats:p><jats:bold>Conclusion:\u2002<\/jats:bold>  <jats:bold>The most sensitive indicators of DOA were optic disc pallor and dyschromatopsia. With molecular genetic analysis, asymptomatic mutation carriers and DOA cases with a mild clinical outcome were ascertained. No mutational hotspot or Finnish major mutation in the <jats:italic>OPA1<\/jats:italic> gene could be demonstrated as most families carried a unique mutation. No obvious genotype\u2212 phenotype correlation could be detected. Detailed clinical assessment and exclusion of non\u2010DOA families prior to mutation screening are necessary for obtaining a high mutation detection rate.<\/jats:bold> <\/jats:p>","DOI":"10.1111\/j.1600-0420.2005.00448.x","type":"journal-article","created":{"date-parts":[[2005,6,8]],"date-time":"2005-06-08T14:57:54Z","timestamp":1118242674000},"page":"337-346","source":"Crossref","is-referenced-by-count":51,"title":["Dominant optic atrophy: correlation between clinical and molecular genetic studies"],"prefix":"10.1111","volume":"83","author":[{"given":"Anu","family":"Puomila","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kirsi","family":"Huoponen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maija","family":"M\u00e4ntyj\u00e4rvi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Petra","family":"H\u00e4m\u00e4l\u00e4inen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Reetta","family":"Paananen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eeva\u2010Marja","family":"Sankila","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marja\u2010Liisa","family":"Savontaus","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mirja","family":"Somer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eeva","family":"Nikoskelainen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,6,8]]},"reference":[{"key":"e_1_2_7_2_1","first-page":"1","article-title":"Spectral sensitivity measurements performed with the Goldmann perimeter","volume":"148","author":"Airas K","year":"1981","journal-title":"Acta Ophthalmol (Copenh)"},{"key":"e_1_2_7_3_1","volume-title":"Molecular Biology of the Cell","author":"Alberts B","year":"2002"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/79944"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9394(03)00665-2"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.3109\/13816819409098868"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9152"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1001\/archopht.1997.01100150097016"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1001\/archopht.1971.00990050135004"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1097\/00125817-200009000-00003"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00184274"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-001-0633-y"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/79936"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1006\/mgme.2001.3278"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/3.6.977"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1159\/000310202"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9394(14)73589-5"},{"key":"e_1_2_7_18_1","first-page":"245","article-title":"Autosomal dominant optic atrophy. 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