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A large cohort study in an Indian population is presented, with clinical and genetic profile analysis of patients with Leber’s hereditary optic neuropathy (LHON) treated over a five-year period. The study included 157 patients; 143 male, 14 female (10.2:1 ratio) with clinically suspected LHON. After genetic testing, 55 males were found to have a mutation for LHON. Mean presenting age was 23.8 ±9.9 years (range 9-53). Median duration of symptoms was six months and mean duration from first hospital appointment to diagnosis was 9.03 ±19.61 months (median two months). For the worst eye at presentations, the condition was mild for one, moderate in 14, severe in 15 and profound in 25. For the better eye, this was mild for seven, moderate for 16, severe for 12 and profound for 20. Simultaneous vision loss occurred for 40 (72.72%). The rest had sequential loss over a period of 12 days to seven months. Pupil signs were noted in 10, bilateral temporal pallor of the disc in 21 and unilateral disc pallor in three. Bilateral optic atrophy was noted in 20 and unilateral in two. One patient had chronic progressive external ophthalmoplegia and one with sensorineural hearing loss. No other cardiac or neurological abnormalities were reported. Visual field assessment showed 22 with central and / or cecocentral visual field loss; eight with severe field loss. Thirteen had abnormal visual evoked potentials. Primary genetic mutation (G11778A in 31 and T14484C in three) was found for 34 with secondary mutation in 21. Treatment with idebenone 900mg daily was given to 15 patients over two to seventh month periods. Vision improved for eight, three were lost to follow-up, three showed no change and one deteriorated. The delay in referral, inadequate treatment compliance and cost of case are likely to have impacted outcomes.

Clinical and genetic profile of Leber’s hereditary optic neuropathy in a cohort of patients from a tertiary eye care center.
Bhate M, Kulkarni S, Nalawade R, Pujar A.
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Fiona Rowe (Prof)

Institute of Population Health, University of Liverpool, UK.

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