Visual prognosis in Irish Leber’s hereditary optic neuropathy
Reviewed by Claire Howard

Leber’s hereditary optic neuropathy (LHON) is an inherited optic neuropathy This paper presents a retrospective review of clinical data from patients with LHON presenting to an Irish tertiary referral ophthalmic hospital. Clinical and genetic characteristics were assessed for useful biomarkers of visual prognosis. LHON diagnosis was made on classic clinical signs with genetic confirmation. Alternate diagnoses were excluded with serological investigations and neuroimaging. Serial logarithm of the minimum angle of resolution (logMAR) visual acuity (VA) was stratified into ‘on-chart’ for logMAR 1.0 or better and ‘off-chart’ if worse than logMAR 1.0. Serial optical coherence tomography scans of the retinal nerve fibre layer (RNFL) and ganglion cell complex (GCC) monitored structure. Idebenone-treated and untreated patients were contrasted. Statistical analyses were performed to assess correlations of presenting characteristics with final VA. Forty-four patients from 34 pedigrees were recruited, of which 87% were male and 75% harboured the 11778 mutation. Legal blindness status was reached in 56.8% of patients by final review (mean 74 months). Preservation of initial nasal RNFL was the best predictor of on-chart final VA. Females had worse final VA than males and patients presenting at < 20 years of age had superior final VA. Idebenone therapy (50% of cohort) yielded no statistically significant benefit to final VA, although the study design precluded definitive comment on efficacy. In conclusion, visual outcomes were universally poor; however, VA may not be the most appropriate outcome measure and certain patient-reported outcome measures may be of more use when assessing future LHON interventions.

The natural history of Leber’s hereditary optic neuropathy in an Irish population and assessment for prognostic biomarkers.
Stephenson KA, McAndrew J, Kenna PF, Cassidy L.
NEURO-OPHTHALMOLOGY
2022;46(3):159-70.