Leber"s Inherited Optic Neuropathy: A Large Family

Yıl 2012, Cilt: 37 Sayı: 2, 121 - 124, 01.06.2012

Taylan Peköz Pınar Bengi Boz Filiz Koç

Öz

Leber's hereditary optic neuropathy characterized by loss of central vision is often seen in men and a maternally inherited disease. Here, admitted to our clinic with complaints of unilateral visual loss was diagnosed as Leber's hereditary optic neuropathy which was confirmed by the presence of a mutation at 3460G>A position.

Anahtar Kelimeler

Optic neuropathy, vision loss, inherited, mutation

Leber"in Herediter Optik Nöropatisi: Geniş Bir Aile

Öz

Leber"in Herediter Optik Nöropatisi (LHON) sıklıkla erkeklerde görülen ve santral görme kaybı ile karekterize maternal olarak kalıtılan bir hastalıktır. Burada tek taraflı görme kaybı yakınması ile kliniğimize başvuran ve mtDNA 3460G>A mutasyonu saptanarak LHON olarak kabul edilen bir olgu sunuyoruz.

Anahtar Kelimeler

Optik nöropati, görme bozukluğu, kalıtsal, mutasyon

Kaynakça

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