Idebenone increases chance of stabilization/recovery of visual acuity in OPA1-dominant optic atrophy

Abstract

We previously documented that idebenone treatment in OPA1-Dominant Optic Atrophy (OPA1-DOA) led to some degrees of visual improvement in seven patients. We here present the results of a cohort study, which investigated the effect of off-label idebenone administration in a larger OPA1-DOA group compared with untreated patients. Inclusion criteria were: OPA1-DOA clinical and molecular diagnosis, baseline visual acuity (VA) greater than/equal to counting fingers and treatment duration greater than 7 months. We found a significant difference between the last visit and baseline VA in favor of stabilization/recovery in idebenone-treated as compared to untreated patients. This effect was retained after controlling for confounders.

Figure 1

OPA1‐DOA visual acuity outcome between baseline and last follow‐up visits. Three possible scenarios of VA outcome are shown by way of example: recovery (1); stabilization (2a and 2b) and worsening (3). The VA outcome of interest for statistical analysis was the VA stabilization/recovery, defined as a best‐corrected‐visual acuity change (VA change). VA = best‐corrected‐visual acuity in logMAR unit.

Figure 2

Visual acuity outcome in untreated and idebenone‐treated OPA1‐mutant DOA patients. Panels A and B show cumulative frequency graphs of untreated (A) and idebenone‐treated (B) OPA1‐DOA patients based on their categorical VA outcome. Light‐blue area represents stable/recovery patients, while pink area corresponds to worsening subgroup of patients. The percentage of idebenone stable/recovery (2B: 92%, n = 46) resulted significantly greater than the untreated (2A: 75.7%, n = 28) by more than 15% (Chi‐square test, P = 0.03). Panel C shows VA change box plot with a solid line representing median value and dotted line representing mean value for both groups. VA = best‐corrected‐visual acuity in logMAR unit; BS = baseline; LV = last visit.