Analysis of Genetic Mutations in a Cohort of Hereditary Optic Neuropathy in Shanghai, China
Joint Authors
Sun, Xinghuai
Tian, Guohong
Li, Mengwei
Gan, Dekang
Wu, Jihong
Source
Issue
Vol. 2017, Issue 2017 (31 Dec. 2017), pp.1-5, 5 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2017-12-04
Country of Publication
Egypt
No. of Pages
5
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Gan, Dekang& Li, Mengwei& Wu, Jihong& Sun, Xinghuai& Tian, Guohong. 2017. Analysis of Genetic Mutations in a Cohort of Hereditary Optic Neuropathy in Shanghai, China. Journal of Ophthalmology،Vol. 2017, no. 2017, pp.1-5.
https://search.emarefa.net/detail/BIM-1185135
Modern Language Association (MLA)
Gan, Dekang…[et al.]. Analysis of Genetic Mutations in a Cohort of Hereditary Optic Neuropathy in Shanghai, China. Journal of Ophthalmology No. 2017 (2017), pp.1-5.
https://search.emarefa.net/detail/BIM-1185135
American Medical Association (AMA)
Gan, Dekang& Li, Mengwei& Wu, Jihong& Sun, Xinghuai& Tian, Guohong. Analysis of Genetic Mutations in a Cohort of Hereditary Optic Neuropathy in Shanghai, China. Journal of Ophthalmology. 2017. Vol. 2017, no. 2017, pp.1-5.
https://search.emarefa.net/detail/BIM-1185135
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1185135