Abstract

Design: Retrospective
Purpose: To study mutation profile and clinical characteristics in genetically proven patients with LHON.
Methods : We retrospectively evaluated patients positive for mutations for LHON. All patients had undergone a detailed ophthalmic evaluation and testing.
Results : 11/31 clinically suspected patients had mutation positive for LHON. 7 had 14484T>C mutation , 2 patients had 11778G>A and 2 had G3460A mutation. Mean age was 21.3+/- 4.7 years. All patients with 14484T>C mutation had symptoms before 20 years while others had later. The logmar visual acuity at presentation ranged from 0.8 to 0.6. Visual field testing revealed different type of scotomas. 4/7 patients with 14484T>C mutation had progression of disease ,two improved and one remained stable. Patients with 11778G>A and G3460A mutation were stable till 1 year.
Conclusion : LHON exhibits genetic and clinical heterogeneity with variable visual outcome with the most common mutation being T14484C

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