FP512 : Kearns Sayre Syndrome – Classical Case Of A Rare Disease!

Dr.DARSHANA RATHOD, D19691, Dr.Samirkumar Maganbhai Serasiya

Kearns Sayre Syndrome (KSS), a rare multi-system mitochondrial disorder presents with a classical triad of external ophthalmoplegia, pigmentary retinopathy, and cardiac conduction defects. We describe a case of 19 years old female patient who presented with a complaint of drooping of both eyelids since 5 years. On examination, bilateral moderate symmetrical ptosis with very poor levator muscle function and restrictions of eye movements was noted. Fundus examination revealed bilateral salt and pepper retinopathy. On investigation, electrocardiography showed Right Bundle Branch Block. Patient had short stature and delayed puberty. After diagnosing this as a case of KSS, bilateral ptosis correction was performed using silicon frontalis sling. Postoperatively, she had minimal bilateral symmetrical lagophthalmos with optimum functional and esthetic ptosis correction. Patient was also referred to physician, cardiologist and geneticist.