Diseases Studied

Kearns-Sayre syndrome (KSS)

Alternative Names: Kearns-Sayre Mitochondrial Cytopathy

Disease Category: Mitochondrial Disorders

A rare disorder affecting nerves and muscles caused by genetic mutations affecting the mitochondria (specialized cell structures that produce energy). It is characterized by progressive loss of eye movement until complete paralysis (absence of movement), ptosis (eyelid drooping), and abnormal pigmentation of the membranous lining of the eyes. Other symptoms include cognitive deficits, ataxia (lack of coordination), mild skeletal muscle weakness, cardiac conduction block (defective electrical signaling in the heart), hearing loss, diabetes, and stunted growth. Most patients with this disease have a sporadic mutation in the DNA of the mitochondria (specialized cell structures that produce energy).

Research groups studying this disease