A Case Report on Kearns Sayre Syndrome: A Rare Oculomyoencephalopathy

Abhishikta Chakraborty, Utkarsh Rai, Jawahar Jyoti Kuli

Abstract: A 22 year short-statured female presented with progressive drooping of both upper eyelids, gradually progressive restriction of eye movements in all gazes. No complaint of diplopia or diminution of vision, no diurnal variation; no history of prior ocular surgery or trauma. She complained of generalised weakness and mild hearing loss. BCVA was 6/6 OU. Chin & Brow elevation present, B/L mild ptosis with preserved Bell?s phenomenon. B/L EOM movement limited in all gazes. Direct & consensual reflexes normal. B/L pigmentary retinopathy was present. Audiometry showed B/L sensorineural deafness. ECG showed AV conduction delay with LVH. Multidisciplinary management for ptosis correction, vision & hearing aids was given.

Keywords: KSS, Ptosis, Hearing loss, conductive hearing loss, Sensorineural Hearing Loss, cardiac abnormalities, red ragged fibers, EOM restriction, skeletal muscle biopsy