Abstract
3/2013
vol. 115
Case report
Leber’s hereditary optic neuropathy – two case reports
- Katedra i Klinika Okulistyki Uniwersytetu Medycznego im. Piastów Śląskich we Wrocławiu
Klinika Oczna 2013, 115 (3): 238-241
Online publish date: 2013/09/26
Aim: The aim of the article is to present 2 cases of LHON revealed in cousins (patients’ mothers were sisters).
Material and methods: They were both diagnosed in the Molecular Medicine Faculty and Department of Ophthalmology, Medical University of Wrocław.
Results: Three of the most popular mutations characteristic for Leber’s hereditary optic neuropathy were negative in both patients.
Conclusion: The patients might have some rare, wild or unidentified mutations.
Material and methods: They were both diagnosed in the Molecular Medicine Faculty and Department of Ophthalmology, Medical University of Wrocław.
Results: Three of the most popular mutations characteristic for Leber’s hereditary optic neuropathy were negative in both patients.
Conclusion: The patients might have some rare, wild or unidentified mutations.
Keywords
Leber’s hereditary optic neuropathy, mtDNA, LHON
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