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Progressive external ophthalmoplegia

DOID EFO MESH SNOMED PheWeb

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

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FinnGen phenotype data

356077 individuals

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Apply sex-specific rule None

356077

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Check conditions None

356077

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Filter registries

Hospital Discharge: ICD-10 H49.4
Hospital discharge: ICD-9 $!$
Hospital discharge: ICD-8 $!$
Cause of death: ICD-10 H49.4
Cause of death: ICD-9 $!$
Cause of death: ICD-8 $!$

18

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Check pre-conditions, main-only, mode, ICD version

Look only at ICD versions H.D: 10, 8, 9 ; C.O.D: 10, 8, 9

18

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Check minimum number of events None

18

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Include endpoints None

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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

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Key figures

All Female Male
Number of individuals 18 11 7
Unadjusted prevalence (%) 0.01 0.01 0.00
Mean age at first event (years) 52.14 54.28 48.78

Mortality

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

Age distribution of first events

Year distribution of first events

Cumulative Incidence

Correlations

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Index endpoint: H7_PROGEXTOPHTHALMOPLEGIA – Progressive external ophthalmoplegia
GWS hits:

Survival analyses between endpoints

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Plot

before Progressive external ophthalmoplegia
after Progressive external ophthalmoplegia

loading spinner Loading survival analyses plot

Drugs most likely to be purchased after Progressive external ophthalmoplegia

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