CPEO

Long Name: Chronic Progressive External Ophthalmoplegia Syndrome

Symptoms: Similar to those of KSS plus: visual myopathy, retinitis pigmentosa, dysfunction of the central nervous system

Cause: Single mitochondrial DNA deletions. Mitochondrial DNA point mutations: A3243G (most common)

Source: Dr. Rolf Luft; The development of mitochondrial medicine. [Review]; Proceedings of the National Academy of Sciences of the United States of America; 1994; 91(19); 8731-8

Links: https://rarediseases.info.nih.gov/diseases/4503/chronic-progressive-external-ophthalmoplegia