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¹M.D. Izmir Military Hospital, Eye Clinic, Izmir/TURKEY
²M.D. Izmir Military Hospital, Endocrine and Metabolism Clinic, Izmir/TURKEY
³M.D. Izmir Military Hospital, Cardiology Clinic, Izmir/TURKEY
⁴M.D. Izmir Military Hospital, Neurology Clinic, Izmir/TURKEY In this study, we want to report a Kearns-Sayre Syndrome (KSS) case with a mitochondrial myopathy diagnosis on muscle biopsy with ophthalmologic findings. KSS is a mitochondrial DNA (mtDNA) deletion resulting diminished oxidative phosphorilation and decreased ATP production. Our patient is 27 years old with the complaints of progressive pitosis on both eyes and limitations of eye movements from the age of four. He declares being operated for three times because of congenital pitosis. Ophtalmologic examination revealed right pitosis, bilateral external ophtalmoplegia and atypical pigmentery retinopathy. Our patient has been diagnosed mitochondrial myopathy and has been consulted with cardiology. Electrocardiogram showed mean 64 beats/minute, sinus rhythm, PR interval 0.18 seconds and bifascicular block (right bundle block with left anterior fascicular block). Mitochondrial diseases are very rare and may present with the ophthalmologic findings as the first sign. Because of this, for reducing the morbidity and mortality, rare diseases like KSS should be diagnosed properly. Keywords : Kearns-Sayre syndrome, mitochondrial disease, eye