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Downloaded from http://journals.lww.com/apjoo by BhDMf5ePHKbH4TTImqenVA5KvPVPZ0P5BEgU+IUTEfzO/GUWifn2IfwcEVVH9SSn on 06/01/2020 REVIEW ARTICLE Leber Hereditary Optic Neuropathy— Light at the End of the Tunnel? Ungsoo Samuel Kim, MD, PhD,*† Neringa Jurkute, MD, FEBO,‡ and Patrick Yu-Wai-Man, PhD, FRCOphth‡§¶ mutation being the most common cause of LHON worldwide ac- Abstract: Leber hereditary optic neuropathy (LHON) is an important 5–7 counting for 70–90% of all cases. Leber hereditary optic neu- cause of mitochondrial blindness. The majority of patients harbor one ropathy is characterized by marked incomplete penetrance and a of three mitochondrial DNA (mtDNA) point mutations, m.3460G>A, male sex bias. Although a wide variability is observed between m.11778G>A, and m.14484T>C, which all affect complex I subunits of families, on average, the lifetime risk of visual loss for a male the mitochondrial respiratory chain. The loss of retinal ganglion cells in LHON carrier is about 50% compared with 10% for a female LHON is thought to arise from a combination of impaired mitochondrial LHON carrier. Leber hereditary optic neuropathy results in se- oxidative phosphorylation resulting in decreased adenosine triphosphate vere central visual loss and the visual prognosis is poor with most (ATP) production and increased levels of reactive oxygen species. Treat- patients remaining registered legally blind
The Asia-Pacific Journal of Ophthalmology – Wolters Kluwer Health
Published: Jul 1, 2018
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