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Start free with EleplanKearns-Sayre syndrome
ORPHA:480Disease
What it is
A rare inborn error of metabolism that is 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.
Key facts
- Prevalence
- 1-9 / 100 000 (Europe)
- Age of onset
- Adolescent, Adult, Childhood, Infancy
- Inheritance
- Autosomal recessive, Mitochondrial inheritance, Not applicable
- Classified as
- Disease
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Very common80–99%
3Common30–79%
11Sometimes5–29%
16- Cardiomyopathy
- Chronic kidney disease
- Cognitive impairment
- Delayed puberty
- Delayed skeletal maturation
- Dementia
- Diabetes mellitus
- Dysphagia
and 8 more in this range
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Genes
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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