Optic nerve head morphology as biomarker in Leber hereditary optic neuropathy (LHON)

Abstract

Purpose : To study the optic nerve head (ONH) morphology in symptomatic patients with Leber hereditary optic neuropathy (LHON) and to correlate ONH parameters with clinical phenotype and mitochondrial DNA genotype.

Methods : Seventy-eight affected patients and 29 age-matched healthy controls were enrolled in the study. All patients underwent ONH optical coherence tomography (OCT) analysis by DRI OCT Triton (Topcon, Japan) and analysed with Orion custom software. For the comparison of the different parameters, the clustered Wilcoxon rank sum test using Rosner-Glynn-Lee method was performed.

Results : LHON patients with the m.11778G>A/MT-ND4 mutation showed a significantly smaller disc area and shorter vertical and horizontal disc diameter compared with controls. Patients with the m.3460G>A/MT-ND1 mutation, instead, presented only a shorter horizontal diameter. Childhood LHON patients with both mutations showed significantly smaller disc area, horizontal and vertical parameters compared to age-matched controls.

Conclusions : This study shows that the ONH morphology could be a potential biomarker to support clinicians to characterize symptomatic LHON patients and possibly at-risk mutation carriers with different genetic mutation and clinical course.

This abstract was presented at the 2023 ARVO Annual Meeting, held in New Orleans, LA, April 23-27, 2023.