MUTATIONS OF LEBER’S HEREDITARY OPTIC NEUROPATHY AND THEIR ASSOCIATION WITH CLINICAL MANIFESTATION
Paulina Steniulytė, Simona Vaitkutė, Rasa Liutkevičienė Abstract Leber‘s hereditary optic neuropathy (LHON) is a rare disorder that mainly presents in males in their young age. The majority of cases are caused by three primary maternally inherited mtDNA point mutations (m.3460G > A, m.11778G > A, and m.14484T > C) that affect subunits 4, 6, and…