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

Vol. 63 No. 1, 2022

ROMANIAN JOURNAL of MORPHOLOGY and EMBRYOLOGY

Maria Filofteia Mercut, Cornelia Andreea Tanasie, Alexandra Oltea Dan, Andreea Mihaela Nicolcescu, Oana Maria Ica, Carmen Luminita Mocanu, Alin Stefan Stefanescu-Dima

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.

Corresponding author: Cornelia Andreea Tanasie, Teaching Assistant, MD, PhD; e-mail: corici.andreea@gmail.com

DOI: 10.47162/RJME.63.1.24 Download PDF
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