Dr.Anisha Rathod, R15753
A 12-year-old boy had blurred vision of the right eye for more than 1 year Visual acuity of the left eye had begun to worsen 2 months previously.Best corrected Visual acuity both eyes finger counting 2 metres .Anterior segment,Pupils were normal.Family History not significant. .VEP suggestive of axonaopathy right more than left eye.Visual fields-Near total field defect bilaterally.Colour Vision-Total Colour BlindnessMRI- Normal,CSF Manometry-NormalRESULTS: Based on the clinical presentation,LHON was suspected.mtDNA examination revealed a point mutation at np 11778.After coenzyme Q10 treatment with vitamin B12 and C,visual acuity remained steady during follow-ups. Visual acuity improved to FC 3 metre in right eye .Bilateral disc pallor was noted but peripapillary telangiectasis,disc margin blurring had disappeared .CONCLUSIONS: Patients with progressive painless dimunition of vision and no active signs of optic neuritis should be evaluated by genetic testing to rule of LHON.
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