Kearns Sayre Syndrome In A 74-Year Old Filipino Male: A Case Report

Karina Q. De Sagun, MD, Raul D. Cruz, MD, Romulo N. Aguilar, MD, Richard C. Kho, MD, Pamela Paulita P. Astudillo, MD

Department of Ophthalmology and Visual Sciences, University of the Philippines – Philippine General Hospital, Manila, Philippines

Purpose. To describe the case of a patient with Kearns Sayre Syndrome

Methods. This is a report on a case of a 74-year old male diagnosed with Kearns Sayre Syndrome, who presented with progressive ptosis and bilateral extraocular limitation since he was 20 years old. Fundus examination showed pigmentary retinopathy.

Results. Diagnosis was made based on the aforementioned symptoms presenting at 20 years of age together with histopathologic analysis of isolated lateral rectus muscle which revealed characteristic red ragged fibers. Cerebrospinal fluid studies showed increased protein levels. MRI showed Cerebral and Cerebellar atrophy.

Conclusion. The characteristic triad of progressive external ophthalmoplegia, pigmentary retinopathy, with symptoms occurring before the age 20 makes diagnosis of Kearns Sayre Syndrome. Other clinical characteristics and laboratory findings associated with Kearns Sayre Syndrome were also reviewed. Management options for KSS were discussed.