Analysis of Genetic Mutations in a Cohort of Hereditary Optic Neuropathy in Shanghai, China
Purpose. To evaluate the clinical classification and characteristics of hereditary optic neuropathy patients in a single center in China. Method. Retrospective case study. Patients diagnosed with hereditary optic neuropathy between January 2014 and December 2015 in the neuro-ophthalmology division i...
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| Format: | Article |
| Language: | English |
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Wiley
2017-01-01
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| Series: | Journal of Ophthalmology |
| Online Access: | http://dx.doi.org/10.1155/2017/6186052 |
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| _version_ | 1849305116612493312 |
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| author | Dekang Gan Mengwei Li Jihong Wu Xinghuai Sun Guohong Tian |
| author_facet | Dekang Gan Mengwei Li Jihong Wu Xinghuai Sun Guohong Tian |
| author_sort | Dekang Gan |
| collection | DOAJ |
| description | Purpose. To evaluate the clinical classification and characteristics of hereditary optic neuropathy patients in a single center in China. Method. Retrospective case study. 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. Results. 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, 5–46 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, 0.1–20 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. Conclusion. 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. |
| format | Article |
| id | doaj-art-3d0d0a236a3c4f12b4df03343884ddb2 |
| institution | Kabale University |
| issn | 2090-004X 2090-0058 |
| language | English |
| publishDate | 2017-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Journal of Ophthalmology |
| spelling | doaj-art-3d0d0a236a3c4f12b4df03343884ddb22025-08-20T03:55:33ZengWileyJournal of Ophthalmology2090-004X2090-00582017-01-01201710.1155/2017/61860526186052Analysis of Genetic Mutations in a Cohort of Hereditary Optic Neuropathy in Shanghai, ChinaDekang Gan0Mengwei Li1Jihong Wu2Xinghuai Sun3Guohong Tian4Department of Ophthalmology, Eye, Ear, Nose and Throat Hospital of Fudan University, Shanghai, ChinaDepartment of Ophthalmology, Eye, Ear, Nose and Throat Hospital of Fudan University, Shanghai, ChinaDepartment of Ophthalmology, Eye, Ear, Nose and Throat Hospital of Fudan University, Shanghai, ChinaDepartment of Ophthalmology, Eye, Ear, Nose and Throat Hospital of Fudan University, Shanghai, ChinaDepartment of Ophthalmology, Eye, Ear, Nose and Throat Hospital of Fudan University, Shanghai, ChinaPurpose. To evaluate the clinical classification and characteristics of hereditary optic neuropathy patients in a single center in China. Method. Retrospective case study. 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. Results. 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, 5–46 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, 0.1–20 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. Conclusion. 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.http://dx.doi.org/10.1155/2017/6186052 |
| spellingShingle | Dekang Gan Mengwei Li Jihong Wu Xinghuai Sun Guohong Tian Analysis of Genetic Mutations in a Cohort of Hereditary Optic Neuropathy in Shanghai, China Journal of Ophthalmology |
| title | Analysis of Genetic Mutations in a Cohort of Hereditary Optic Neuropathy in Shanghai, China |
| title_full | Analysis of Genetic Mutations in a Cohort of Hereditary Optic Neuropathy in Shanghai, China |
| title_fullStr | Analysis of Genetic Mutations in a Cohort of Hereditary Optic Neuropathy in Shanghai, China |
| title_full_unstemmed | Analysis of Genetic Mutations in a Cohort of Hereditary Optic Neuropathy in Shanghai, China |
| title_short | Analysis of Genetic Mutations in a Cohort of Hereditary Optic Neuropathy in Shanghai, China |
| title_sort | analysis of genetic mutations in a cohort of hereditary optic neuropathy in shanghai china |
| url | http://dx.doi.org/10.1155/2017/6186052 |
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