Progressive external ophthalmoplegia

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
diagram bullet diagram downward connector

Filter registries Inpat., Oupat., Death

Hospital Discharge: ICD-10 H49.4
Cause of death: ICD-10 H49.4

Check pre-conditions None

Include endpoints None

Check conditions None

Apply sex-specific rule None

diagram downward connector H7_PROGEXTOPHTHALMOPLEGIA

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

Summary Statistics

Key figures

All Female Male
Number of individuals 12 9 -
Unadjusted prevalence (%) 0.00 0.01 -
Mean age at first event (years) 48.99 53.49 -

Mortality

Follow-up Absolute risk HR [95% CI] p N
1998–2019 - - - -
15 years - - - -
5 years - - - -
1 year - - - -

Correlations

Index endpoint: H7_PROGEXTOPHTHALMOPLEGIA – Progressive external ophthalmoplegia
GWS hits:

Survival analyses between endpoints

Plot

before Progressive external ophthalmoplegia
after Progressive external ophthalmoplegia

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Drugs most likely to be purchased after Progressive external ophthalmoplegia