Retinal morphological and functional response to Idebenone therapy in Leber hereditary optic neuropathy

• Published in: Romanian journal of morphology and embryology Vol. 63; no. 1; pp. 213 - 219
• Main Authors: Mercuţ, Maria Filofteia, Tănasie, Cornelia Andreea, Dan, Alexandra Oltea, Nicolcescu, Andreea Mihaela, Ică, Oana Maria, Mocanu, Carmen Luminiţa, Ştefănescu-Dima, Alin Ştefan
• Format: Journal Article
• Language: English
• Published: Academy of Medical Sciences, Romanian Academy Publishing House, Bucharest 01.01.2022
• Subjects: Case Reports
• ISSN: 1220-0522; 2066-8279
• DOI: 10.47162/RJME.63.1.24

Leber hereditary optic neuropathy (LHON) is a mitochondrial disease leading to optic atrophy due to degeneration of the retinal ganglion cell. A curative treatment is not available at the moment, but a new antioxidant drug, Idebenone, is expected to reduce the progression of the disorder. Two male patients, genetically confirmed with LHON, were clinically, morphologically, and electrophysiologically evaluated, before and three, six, nine and 12 months after starting the treatment. The patient with 3460G>A mutation in mitochondrially-encoded nicotinamide adenine dinucleotide, reduced form (NADH):ubiquinone oxidoreductase core subunit ( mtND ) 1 gene showed an improvement in visual acuity, visual field, and visual evoked potentials with no effect on morphological examinations, while the patient with 11778G>A mutation in mtND4 gene showed no functional, nor morphological recovery after one year of treatment. This study demonstrates that Idebenone, depending on the genetic profile of the disease, may be effective in functional improvement in patients with LHON.