In this article, Dr. Tanyatuth Padungkiatsagul of Mahidol University discusses Leber hereditary optic neuropathy, a maternally inherited bilateral optic neuropathy that typically affects teenage males with acute vision loss first in one eye and then the other within days or weeks. There are some distinctive changes in the ocular fundus appearance at various stages of the process that make specific diagnosis possible clinically. The etiology involves mutations in the mitochondrial DNA, and penetrance is incomplete. Due to the acute sequential presentation, there is a unique opportunity to study treatments that reduce risk of symptom development. There are active clinical trials underway to study gene therapy and drug therapy.
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