ABSTRACT

The study of mitochondrial DNA (mtDNA) abnormalities has intensified in the last 10 years and revolutionized our knowledge of a previously esoteric subject. Ophthalmologists were initially among the first physicians to express interest in this genetic topic because of the intriguing facts related to the genetic transmission of Leber hereditary neuroretinopathy (LHON). Ophthalmology continues to be in the forefront of mtDNA research due to several serious eye diseases that are associated with mtDNA mutations.