Leber’s hereditary optic neuropathy – two case reports

Małgorzata Mulak; Krystian Kisza; Karolina Dembska; Marta Misiuk-Hojło

eISSN: 2719-3209
ISSN: 0023-2157

Klinika Oczna / Acta Ophthalmologica Polonica

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3/2013
vol. 115

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abstract:

Case report

Leber’s hereditary optic neuropathy – two case reports

Małgorzata Mulak

¹

,

Krystian Kisza

¹

,

Karolina Dembska

¹

,

Marta Misiuk-Hojło

¹

Katedra i Klinika Okulistyki Uniwersytetu Medycznego im. Piastów Śląskich we Wrocławiu

Klinika Oczna 2013, 115 (3): 238-241

Online publish date: 2013/09/26

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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.

keywords:

Leber’s hereditary optic neuropathy – two case reports

Małgorzata Mulak 1 , Krystian Kisza 1 , Karolina Dembska 1 , Marta Misiuk-Hojło 1

Leber’s hereditary optic neuropathy, mtDNA, LHON

Małgorzata Mulak

¹

,

Krystian Kisza

¹

,

Karolina Dembska

¹

,

Marta Misiuk-Hojło

¹