| Autor: |
Hong-Zin Lin, Cheng-Yoong Pang, Shee-Ping Chen, Rong-Kung Tsai |
| Jazyk: |
angličtina |
| Rok vydání: |
2012 |
| Předmět: |
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| Zdroj: |
Kaohsiung Journal of Medical Sciences, Vol 28, Iss 12, Pp 679-682 (2012) |
| Druh dokumentu: |
article |
| ISSN: |
1607-551X |
| DOI: |
10.1016/j.kjms.2012.04.038 |
| Popis: |
In this report, we describe a Taiwanese (Han Chinese) family with Leber's hereditary optic neuropathy. The family carried a mitochondrial DNA mutation (mtDNA m.14484T>C) associated with spontaneous visual improvement. A 15-year-old boy from this family was diagnosed with Leber's hereditary optic neuropathy 6 months after losing his vision. His vision recovered after 8 months of supportive treatment. His mother, older brother, and two sisters also had the same mutation and had previously experienced vision loss. In this family, there was no male predominance. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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