DR. MANJUSHREE BHATE

Abstract

To identify and describe the clinical profile at presentation and treatment outcome with Idebenone in patients diagnosed with Leber’s Hereditary Optic Neuropathy (LHON)

Amongst 55 patients of proven LHON, Idebenone was used for treatment in 15 patients. The clinical profile, mutations identified, and treatment outcome in these was further analysed

All were males, the mean age was 23.80 ± 9.90 (range 9-53 years) mean duration between the first hospital visit and genetically proven diagnosis was 9.03 ± 19.61 months (median 2 months). The visual acuity ranged from 20/40 (logMAR 0.3) to CF (logMAR 2.0). Idebenone treatment duration ranged from 2 to 11 months. An improvement in visual acuity (>2 snellen line) was observed in 10 patients (n=6 both eyes and n=4 in one eye)

Idebenone is currently the only approved treatment for LHON. We observed an improvement in the visual acuity in two-thirds of the patients and offers hope for patients with LHON as a light at the end of the tunnel

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