This is a non-core endpoint: only basic statistics are computed.
Progressive external ophthalmoplegia
DOID EFO MESH SNOMED Endpoint Browser
H7_PROGEXTOPHTHALMOPLEGIA
progressive external ophthalmoplegia: A mitochondrial myopathy characterized by slowly progressive paralysis of the levator palpebrae, orbicularis oculi, and extraocular muscles. Ragged-red fibers and atrophy are found on muscle biopsy. Familial and sporadic forms may occur. Disease onset is usually in the first or second decade of life, and the illness slowly progresses until usually all ocular motility is lost. (From Adams et al., Principles of Neurology, 6th ed, p1422)
Endpoint definition
↥
FinnGen phenotype data
429209 individuals
Apply sex-specific rule None
429209
Check conditions None
429209
Check pre-conditions, main-only, mode, registry filters
2 out of 7 registries used, show all original rules.
20
Check minimum number of events None
20
Include endpoints None
20
Remove individuals based on genotype QC
19
H7_PROGEXTOPHTHALMOPLEGIA
Control definitions
Control exclude
H7_OCUMUSCLE
Extra metadata
Level in the ICD hierarchy
4
First used in FinnGen datafreeze
DF2
Parent code in ICD-10
H49
Name in latin
Ophthalmoplegia externa progressiva
Not enough data for upset plot.
Or the full data table
Similar endpoints
↥List of similar endpoints to
Progressive external ophthalmoplegia
based on the number of shared cases.
Broader endpoints:
- Paralytic strabismus
- Strabismus
- Disorders of ocular muscles, binocular movement, accommodation and refraction
- Diseases of the eye and adnexa
- Any operation in hilmo
Narrower endpoints:
None
Summary Statistics
↥Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 19 | 12 | 7 |
| Unadjusted prevalence (%) | 0.00 | 0.01 | 0.00 |
| Mean age at first event (years) | 49.92 | 50.59 | 48.78 |
Mortality
Not a core endpoint, no data to show.
Age distribution of first events
Year distribution of first events
Cumulative Incidence
Not a core endpoint, no data to show.
Correlations
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Index endpoint: H7_PROGEXTOPHTHALMOPLEGIA – Progressive external ophthalmoplegia
GWS hits:
Survival analyses between endpoints
↥Not a core endpoint, no data to show.
Drugs most likely to be purchased after Progressive external ophthalmoplegia
↥Endpoint not on priority list, no data to show.