Kearns-Sayre syndrome (KSS)

Epidemiology

• rare
• onset usually before the age of 20

Genetics

• maternal inheritance (mitochondrial genomic aberration)

Clinical manifestations

• progressive external ophthalmoplegia
• retinitis pigmentosa
• ptosis
• variable feature
  • mild skeletal muscle weakness
  • short stature
  • hearing loss
  • ataxia
  • cognitive impairment
  • diabetes
  • seizures are infrequent
  • several endocrine disorders can be associated with KSS

Laboratory

• hyperglycemia may be observed
• elevated cerebrospinal fluid protein
• biochemical analysis of enzymes of oxidative phosphorylation
• mitochondrial genome analysis Electrocardiogram
  • heart block may be observed

Management

• specific treatment not available
• limited success in some clinical trials with
  • Coenzyme Q10
  • riboflavin
  • vitamin C
  • vitamin K
• prognosis: slowly progressive disorder

More general terms

• neuromuscular disease; myoneural disease
• mitochondrial encephalomyopathy
• syndrome

Patient information

Kearns-Sayre syndrome patient information

Database

• OMIM: https://mirror.omim.org/entry/530000