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Patients diagnosed with hereditary optic neuropathy between January 2014 and December 2015 in the neuro-ophthalmology division in Shanghai Eye and ENT Hospital of Fudan University were recruited. Clinical features as well as visual field, brain\/orbital MRI, and spectrum domain optical coherence tomography (SD-OCT) were analyzed. <jats:italic>Results.<\/jats:italic> Eighty-two patients diagnosed by gene test were evaluated, including 66 males and 16 females. The mean age of the patients was 19.4 years (range, 5\u201346 years). A total of 158 eyes were analyzed, including 6 unilateral, 61 bilateral, and 15 sequential. The median duration of the disease was 0.5 year (range, 0.1\u201320 years). Genetic test identified 68 patients with Leber hereditary optic neuropathy, 9 with dominant optic neuropathy, and 2 with a Wolfram gene mutation. There was also one case of hereditary spastic paraplegia, spinocerebellar ataxia, and polymicrogyria with optic nerve atrophy, respectively. <jats:italic>Conclusion.<\/jats:italic> Leber hereditary optic neuropathy is the most common detected type of hereditary optic neuropathy in Shanghai, China. The detection of other autosomal mutations in hereditary optic neuropathy is limited by the currently available technique.<\/jats:p>","DOI":"10.1155\/2017\/6186052","type":"journal-article","created":{"date-parts":[[2017,12,4]],"date-time":"2017-12-04T18:30:59Z","timestamp":1512412259000},"page":"1-5","source":"Crossref","is-referenced-by-count":7,"title":["Analysis of Genetic Mutations in a Cohort of Hereditary Optic Neuropathy in Shanghai, China"],"prefix":"10.1155","volume":"2017","author":[{"given":"Dekang","family":"Gan","sequence":"first","affiliation":[{"name":"Department of Ophthalmology, Eye, Ear, Nose and Throat Hospital of Fudan University, Shanghai, China"},{"name":"Key Laboratory of Visual Impairment and Restoration of Shanghai, Shanghai, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mengwei","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Eye, Ear, Nose and Throat Hospital of Fudan University, Shanghai, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jihong","family":"Wu","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Eye, Ear, Nose and Throat Hospital of Fudan University, Shanghai, China"},{"name":"State Key Laboratory of Medical Neurobiology, Institute of Brain Science, Fudan University, Shanghai, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4440-1389","authenticated-orcid":true,"given":"Xinghuai","family":"Sun","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Eye, Ear, Nose and Throat Hospital of Fudan University, Shanghai, China"},{"name":"State Key Laboratory of Medical Neurobiology, Institute of Brain Science, Fudan University, Shanghai, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4277-1762","authenticated-orcid":true,"given":"Guohong","family":"Tian","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Eye, Ear, Nose and Throat Hospital of Fudan University, Shanghai, China"},{"name":"State Key Laboratory of Medical Neurobiology, Institute of Brain Science, Fudan University, Shanghai, China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","reference":[{"key":"1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.eye.6701591"},{"key":"2","doi-asserted-by":"publisher","DOI":"10.3109\/08820538.2013.825296"},{"issue":"12","key":"3","first-page":"1065","volume":"48","year":"2012","journal-title":"Zhonghua Yan Ke Za Zhi"},{"key":"4","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbrc.2005.11.150"},{"key":"5","first-page":"292","volume":"19","year":"2013","journal-title":"Molecular Vision"},{"key":"6","doi-asserted-by":"publisher","DOI":"10.3109\/19401736.2015.1136304"},{"issue":"4","key":"7","first-page":"703","volume":"58","year":"1996","journal-title":"American Journal of Human Genetics"},{"issue":"2","key":"8","first-page":"203","volume":"48","year":"1991","journal-title":"American Journal of Human Genetics"},{"key":"9","doi-asserted-by":"publisher","DOI":"10.1177\/0883073813492895"},{"issue":"10","key":"10","first-page":"595","volume":"153","year":"1997","journal-title":"Revue Neurologique"},{"key":"11","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.10.007"}],"container-title":["Journal of Ophthalmology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/downloads.hindawi.com\/journals\/joph\/2017\/6186052.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/joph\/2017\/6186052.xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/joph\/2017\/6186052.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2018,5,20]],"date-time":"2018-05-20T19:32:55Z","timestamp":1526844775000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.hindawi.com\/journals\/joph\/2017\/6186052\/"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017]]},"references-count":11,"alternative-id":["6186052","6186052"],"URL":"https:\/\/doi.org\/10.1155\/2017\/6186052","relation":{},"ISSN":["2090-004X","2090-0058"],"issn-type":[{"value":"2090-004X","type":"print"},{"value":"2090-0058","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017]]}}}