Özlem Araal, Füsun Mayda Domaç, Handan Mısırlı, Pınar Topaloğlu

Haydarpaşa Numune Eğitim ve Araştırma Hastanesi I. Nöroloji Kliniği, İstanbul

Keywords: bilateral optic atrophy, mithocondrıal DNA

Abstract

Leber's hereditary optic neuropathy (LHON) is a disease which presents at the second or third decades and is characterized with the findings of acute or subacute, painless, unilateral or bilateral visual loss. Though usually there is a positive family history on the maternal side definitive diagnosis can be established by finding the change in the mitochondrial gene. In our study, the patient who had the diagnosis of LHON with the confirmation of medical history, neuro-ophtalmological examination and genetic evaluation was presented.