{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,14]],"date-time":"2026-01-14T01:02:12Z","timestamp":1768352532996,"version":"3.49.0"},"reference-count":43,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2013,2,7]],"date-time":"2013-02-07T00:00:00Z","timestamp":1360195200000},"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":["Acta Ophthalmologica"],"published-print":{"date-parts":[[2013,5]]},"abstract":"<jats:title>Abstract.<\/jats:title><jats:p><jats:bold>Purpose:\u2002<\/jats:bold> To identify the underlying molecular genetic cause in a Czech family with optic atrophy, deafness, ptosis, ophthalmoplegia, polyneuropathy and ataxia transmitted as an autosomal dominant trait.<\/jats:p><jats:p><jats:bold>Methods:\u2002<\/jats:bold> Ophthalmological and neurological examination followed by molecular genetic analyses.<\/jats:p><jats:p><jats:bold>Results:\u2002<\/jats:bold> Seven family members were clinically affected. There was a variable but progressive visual, hearing and neurological disability across the family as a whole. The majority of subjects presented with impairment of visual function and a variable degree of ptosis and\/or ophthalmoplegia from the first to the third decade of life. Deafness, neuropathy and ataxia appeared later, in the third and fourth decade. Migraine, tachycardia, intention tremor, nystagmus and cervical dystonia were observed in isolated individuals. A significant overall feature was the high level of neurological disability leading to 3 of 4 members being unable to walk or stand unaided before the age of 60\u2003years. A novel missense mutation c.1345A&gt;C (p.Thr449Pro) in <jats:italic>OPA1<\/jats:italic> segregating with the disease phenotype over three generations was detected. <jats:italic>In silico<\/jats:italic> analysis supported pathogenicity of the identified sequence variant.<\/jats:p><jats:p><jats:bold>Conclusion:\u2002<\/jats:bold> Our work expands the spectrum of mutation in <jats:italic>OPA1<\/jats:italic>, which may lead to severe multisystem neurological disorder. The molecular genetic cause of dominant optic atrophy in the Czech population is reported for the first time. We propose that regular cardiac follow\u2010up in patients diagnosed with dominant optic atrophy and widespread neurological disease should be considered.<\/jats:p>","DOI":"10.1111\/aos.12038","type":"journal-article","created":{"date-parts":[[2013,2,7]],"date-time":"2013-02-07T10:45:29Z","timestamp":1360233929000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":32,"title":["Novel <i>OPA1<\/i> missense mutation in a family with optic atrophy and severe widespread neurological 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