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Wydanie 4/2011
str. 144

Dziedziczna neuropatia wzrokowa Lebera – opis przypadków

Leber Hereditary Optic Neuropathy – Case Report

Grażyna Malukiewicz, Małgorzata Seredyka-Burduk, Elżbieta Zielińska

Klinika Chorób Oczu Collegium Medicum w Bydgoszczy Uniwersytetu Mikołaja Kopernika w Toruniu
Kierownik: dr hab. n. med. Grażyna Malukiewicz, prof. nadzw. UMK

Summary: Leber hereditary optic neuropathy (LHON) is characterized by bilateral sub-acute loss of central vision as a result of focal degeneration of the retinal ganglion cell layer. The prognosis of disease is poor and majority of patients remain severely visually impaired. In majority of affected individuals visual loss begins in the second or third decade of life. In approximately 95% of cases, LHON is caused by three point mutations in mitochondrial DNA. We describe the history of two patients with 11778 mutation and severe visual acuity loss. In our paper we also point at the role of environmental factors in triggering visual loss among carriers. We present the possibility of using gene therapy to treat LHON and we underline problems with proper qualification to treatment.

Słowa kluczowe: dziedziczna neuropatia wzrokowa Lebera, mitochondrialne DNA, mutacja, terapia genowa.

Keywords: Leber hereditary optic neuropathy, mitochondrial DNA, mutation, gene therapy.

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