Kearns-Sayre Syndrome (KSS)

Kearns-Sayre Syndrome, also known as ophthalmoplegia, is related to chronic progressive external ophthalmoplegia and pearson marrow-pancreas syndrome, and has symptoms including cerebellar ataxia, seizures and muscle weakness. An important gene associated with Kearns-Sayre Syndrome is MT-TY (Mitochondrially Encoded TRNA-Tyr (UAU/C)), and among its related pathways/superpathways are Metabolism and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. The drugs Dalfampridine and Histamine have been mentioned in the context of this disorder. Affiliated tissues include eye and retina, and related phenotypes are abnormality of retinal pigmentation and progressive external ophthalmoplegia