Abstract
Chronic progressive external ophthalmoplegia (CPEO) is characterized by gradually (=chronic) worsening (=progressive) weakness (=plegia) of all eye muscles (external ophthalmoplegia), sparing the pupils (=internal). It can occur alone or as part of the ophthalmoplegia plus syndromes. CPEO usually reflects a mitochondrial disorder and may be sporadic or inherited. The mitochondrial genome shows variable abnormalities, with mutations in autosomal genes involved in mitochondrial replication, such as POLG1, PEO1 (Twinkle), and ANT1. Kearns–Sayre syndrome (KSS, also called Kearns–Sayre–Daroff syndrome) patients have CPEO onset before the age of 20 years, pigmentary retinopathy, with cardiac conduction abnormalities, weakness, ataxia, deafness, elevated cerebrospinal fluid protein, and brain spongiform changes. The treatment involves ptosis correction and ocular lubrication. All CPEO patients require cardiac screening because of KSS.
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
