|Title||A CASE REPORT OF KEARNS-SAYRE SYNDROME|
|Author, Co-Author||Huey-Fen Song|
Northern Hemisphere C-D
|Abstract|| BACKGROUND: Kearns-Sayre syndrome (KSS) is a rare disorder caused by deletion mutations in mitochondrial DNA (mtDNA). KSS is defined by a triad of chronic progressive external ophthalmoplegia (CPEO), pigmentary retinopathy, and cardiac conduction defects (arrhythmias, heart block, and cardiomyopathy); also associated with mental retardation, short stature, deafness, vestibular problems, and elevated cerebrospinal fluid protein. Barnard and Scholz first reported the association of external ophthalmoplegia and retinal dystrophy in 1944 and Kearns and Sayre subsequently added cardiomyopathy as a feature. CASE RERORT. A 42 year old male was seen in VAMC Tucson with chief complaint of progressive decrease of visual acuity, foreign body sensation OU, and a ten year history of muscle pain, weakness, cardiomyopathy, and eyelid ptopsis. He was first diagnosed with Kearns-Sayre syndrome at age of 24. He was diagnosed with an unknown neurologic disease in 1977. In 1978, he started experiencing difficulty reading and retinitis pigmentosa was diagnosed. He had further episodes of poor vision and, subsequently in 1985, he was diagnosed with heart block and pacemaker was placed. A muscle biopsy in the 1970's was significant for red ragged fibers, and rebiopsy in 2000 shows no progression. He underwent a serious of blepharoplasty (bilateral tarsal slings) in 1993 and 1994. He also reports dysphagia and deafness. The eye exam reveals restriction of gaze at all direction with typical doll's head maneuvers, exposure keratopathy with corneal thinning secondary to lagophthalmus from surgery and scarring, and diffused RPE degeneration with extensive peripapillary atrophy OU. The best-corrected visual acuity was 20/200 OD/OS.
CONCLUSIONS. Here we report a case of KSS with severe CPEO and pigmentary retinopathy. Although rebiopsy of muscle showed no progression, visual symptoms continue to deteriorate.
|Affiliation of Co-Authors|