Kearns-Sayre Syndrome in A 27-Year-Old Male: A Case Report

Objective: To report a case of a 27-year-old patient who presented with progressive external ophthalmoplegia and ptosis along with pigmentary retinopathy, cardiac conduction abnormalities, and hearing loss.

Methods: Descriptive case report.

Results: We report a rare case of a patient who presented with progressive external ophthalmoplegia and ptosis. Upon further physical and diagnostic examination, he was also found to have pigmentary retinopathy, cardiac conduction abnormalities, and hearing loss, which are associated with his ophthalmologic signs and symptoms.

Conclusion: In conclusion, Kearns-Sayre Syndrome is an inherited mitochondrial myopathy characterized by chronic progressive external ophthalmoplegia, pigmentary retinopathy, and other non-ophthalmologic findings such as cardiac conduction abnormalities and hearing deficits. In a patient presenting with these ophthalmologic findings, it is important to also look out for associated cardiac and otologic abnormalities and manage these associated life-threatening conditions.

Keywords: Kearns-Sayre Syndrome; Chronic Progressive External Ophthalmoplegia