Clinical, Structural, and Genetic Features of Leber Hereditary Optic Neuropathy in Colombia: A Multicenter Retrospective Cohort Study

This study characterizes the clinical, structural, and genetic profile of Colombian patients with Leber’s Hereditary Optic Neuropathy (LHON) through a multicenter retrospective cohort with longitudinal follow-up. Medical records from five neuro-ophthalmology centers (2019–2024) were reviewed. Inclusion criteria were genetically confirmed LHON, age ≥ 10 years, and complete ophthalmologic evaluation (best corrected visual acuity (BCVA), visual fields, and optical coherence tomography (OCT)). Twenty-one patients (42 eyes) were included. Median follow-up was 14.2 months (IQR 11.0–17.8). The predominant mutations were m.11778G>A (61.9%), m.14484T>C (28.6%) and m.3460G>A (9.5%). Median age at diagnosis was 37 years. BCVA showed no significant change during follow-up (p = .62). However, OCT revealed significant thinning in both retinal nerve fiber layer (median decrease: 11.0 μm, p = .0005) and ganglion cell complex (median decrease: 2.6 μm, p = .0040). Post-hoc power was high for RNFL (0.957) and moderate for GCC (0.534), but insufficient for visual acuity (0.095). This is the largest LHON cohort reported in Colombia to date. Despite stable visual acuity, progressive retinal thinning was observed. These findings highlight the importance of structural imaging for disease monitoring and the need to optimize diagnostic timelines through referral pathways, genetic testing access, and national registries.