Kearns-Sayre syndrome

Definition

Kearns-Sayre syndrome (KSS) is a mitochondrial disease characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block.

Also known as Kearns Sayre Syndrome, Kearns-Sayre syndrome — per MONDO

Also identified as

• DOID 12934 per MONDO
• ICD10CM H49.81 per MONDO
• MESH D007625 per MONDO
• NCIT C84798 per MONDO
• OMIM 530000 per MONDO
• Orphanet 480 per MONDO
• SCTID 25792000 per MONDO
• UMLS C0022541 per MONDO