Kearns-Sayre syndrome (KSS) – has hallmark symptoms in the eyes and throughout the body typically beginning before age 20 and correlates with specific nuclear DNA mutations that cause problems with many of the organs and tissues in the body. Eye symptoms include progressive external ophthalmoplegia, (weakness or paralysis of the eye muscles that impairs eye movement, causing drooping eyelids (ptosis)), and pigmentary retinopathy, (degeneration of the light-sensing tissue in the retina that gives it a speckled and streaked appearance). The retinopathy may cause loss of vision. Systemically, at least one of the following signs or symptoms is noted: abnormalities of the electrical signals that control the heartbeat (cardiac conduction defects), problems with coordination and balance that cause unsteadiness while walking (ataxia), or abnormally high levels of protein in the cerebrospinal fluid. Other symptoms include muscle weakness in their limbs, deafness, kidney problems, or a deterioration of cognitive functions (dementia). Affected individuals often have short stature. In addition, diabetes mellitus is occasionally seen in people with Kearns-Sayre syndrome. Ragged Red fibers can be seen in the muscle cells indicating an excess of mitochondria. A related condition called ophthalmoplegia-plus may be diagnosed if an individual has many of the signs and symptoms of Kearns-Sayre syndrome but not all the criteria are met.
Currently, no effective way to treat mitochondrial abnormalities in KSS exists. Treatment is generally symptomatic and supportive, utilizing multiple specialties to support the organs involved, including regular and long-term follow-up with cardiologists. Other consultations may include audiology, ophthalmology, endocrinology, neurology, and neuropsychiatry. Management options include placement of cardiac pacemakers in individuals with cardiac conduction blocks, eyelid slings for severe ptosis, cochlear implants and hearing aids for neurosensory hearing loss, hormone replacement for endocrinopathies, dilation of the upper esophageal sphincter to alleviate achalasia, folinic acid supplementation in individuals with low cerebral spinal fluid folic acid, administration of coenzyme Q10 and L-carnitine, physical and occupational therapy, and treatment of depression. Surveillance includes EKG and echocardiogram every six to 12 months and yearly audiometry and endocrinologic evaluation.