Age-dependent retinal neuroaxonal degeneration in children and adolescents with Leber hereditary optic neuropathy under idebenone therapy

Eur J Neurol. 2023 May 9. doi: 10.1111/ene.15847. Online ahead of print.


BACKGROUND: The aim of this study was to investigate the neuroretinal structure of young patients with Leber Hereditary Optic Neuropathy (LHON).

METHODS: For this retrospective cross-sectional analysis, the peripapillary retinal nerve fiber layer (pRNFL) thickness and the macular retinal layer volumes were measured by optical coherence tomography. Patients aged 12 years or younger at disease onset were assigned to the childhood-onset (ChO) group and those aged 13 to 16 years to the early teenage-onset (eTO) group. All patients received treatment with idebenone. The same measurements were repeated in age-matched control groups with healthy subjects.

RESULTS: The ChO group included 11 patients (21 eyes), and the eTO group 14 patients (27 eyes). Mean age at onset was 8.6±2.7 years in the ChO group and 14.8±1.0 years in the eTO group. Mean best-corrected visual acuity (BCVA) was 0.65±0.52 logMAR in the ChO group and 1.60±0. 51 logMAR in the eTO group (p<0.001). Reduced pRNFL was evident in the eTO group compared to the ChO group (46.0±12.7 μm vs. 56.0±14.5 μm, p=0.015). Additionally, a significantly lower combined ganglion cell and inner plexiform layer volume was found in the eTO compared to the ChO group (0.266±0.0027 mm3 vs. 0.294±0.033 mm3 , p=0.003). No difference in these parameters was evident between the age-matched control groups.

CONCLUSION: Less neuroaxonal tissue degeneration was observed in ChO LHON than in eTO LHON, a finding that may explain the better functional outcome of ChO LHON.

PMID:37158303 | DOI:10.1111/ene.15847