Skip to main content
  • Courtesy of Damien Luviano, MD, FACS, Nishant Kumar, FRCOphth, Beth McGraw,
    File Size: 93 KB
    Ocular Pathology/Oncology

    A 62-year-old woman presented with the inability to move her eyes in all directions. The patient had a history of an arrhythmia. Her eye exam revealed normal visual acuity and pigmentary retinopathy. These signs are indicative of Kearns-Sayre syndrome (KSS). Kearns-Sayre syndrome, an inherited mitochondrial myopathy, is characterized by development of external opthalmopleigia, pigmentary retinopathy, and cardiac conduction abnormalities. The image displays the patient with complete opthalmopleigia, the inability to gaze in all directions due to defect of mitochondrial DNA affecting the extraocular muscles. The extraocular muscles and heart muscles are especially sensitive to the metabolic demands, so they manifest in KSS. The patient had a biopsy of her thigh muscles which showed the characteristic red ragged fibers of Kearns-Sayre syndrome. Follow-up treatment involved implementing a pacemaker.