Current status & outcomes of the Welsh national cohort of patients with leber's hereditary optic neuropathy treated with idebenone

Abstract

Aims/Purpose: To assess the real‐world effectiveness of idebenone in a heterogenous group of patients with LHON treated with idebenone in Wales. This provides insight into the national outcomes of.Methods: Patients were identified from the ophthalmic genetics service based at Cardiff Eye Unit. Clinical notes were reviewed and details were collated on: demographics of patients, genetic mutation ascribed to be causative of LHON, visual acuity from diagnosis through to March 2023. Visual acuity was analysed for clinically relevant recovery (CRR) defined as improvement from “off‐chart” to at least 5 letters “on‐chart” or “on‐chart” improvement of at least 10 letters.Results: 11 patients with LHON were identified as being treated with Idebenone 300 mg TDS. Currently 45.9 ± 20.3 years of age (range 22–73). 8 male and 3 female patients. 6 patients had the m11778G > A mutation and 4 patients had the m14484T>C. Disease duration at treatment onset ranged from 2 to 216 months with a mean of 35.8 months. Patients had a mean duration of treatment of 14 months (range 6–20). 2 eyes in one patient demonstrated CRR improving from a nadir of 6/60 and counting fingers acuity to 6/6 and 6/7.5 respectively. All other patients demonstrated no CRR at the time of data collection.Conclusions: Idebenone has mixed results in a heterogenous group of patients with LHON providing significant benefit for one patient out of a cohort of 12, meanwhile others demonstrated limited improvements, albeit prior to a full two‐year course of treatment. It remains to be seen what the long‐term outcomes will be with sustained treatment with idebenone.