Degenerative myopia

H7_DEGENMYOPIA

pathological myopia: ['Excessive axial myopia associated with complications (especially posterior staphyloma and CHOROIDAL NEOVASCULARIZATION) that can lead to BLINDNESS.']

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Endpoint definition

Endpoint definition steps

FinnGen

Phenotype data

473681

1. Apply sex-specific rule

None

473681

2. Check conditions

None

473681

3. Check pre-conditions, main-only, mode, registry filters

Registry filters:

  • Hospital discharge: ICD-10 H44.2
  • Hospital discharge: ICD-9 3602A
  • Cause of death: ICD-10 H44.2
  • Cause of death: ICD-9 3602A

2 out of 7 registries used, show all original rules.

209

4. Check minimum number of events

None

209

5. Include endpoints

None

209

6. Filter based on genotype QC (FinnGen only)

200

Control definitions (FinnGen only)

Control exclude H7_VITREOUS

Extra metadata

Level in the ICD hierarchy 4
First used in FinnGen datafreeze DF2
Parent code in ICD-10 H44
Name in latin Myopia degenerativa

Case counts by codes

FinnGen case counts by registry codes:

generic upset plot

Upset plot

Full data table

Summary Statistics

-FinRegistry-

Key figures

All Female Male
Number of individuals
Whole population 2133 1513 608
Only index persons 1912 1363 549
Unadjusted period prevalence (%)
Whole population 0.04 0.04 0.02
Only index persons 0.04 0.05 0.02
Median age at first event (years)
Whole population 59.30 62.03 52.35
Only index persons 57.27 59.91 50.71

-FinnGen-

Key figures

All Female Male
Number of individuals 200 150 50
Unadjusted period prevalence (%) 0.05 0.06 0.03
Median age at first event (years) 56.95 56.74 57.56

-FinRegistry-

Age distribution of first events

-FinnGen-

Age distribution of first events

-FinRegistry-

Year distribution of first events

-FinnGen-

Year distribution of first events

-FinRegistry-

Cumulative Incidence Function

-FinnGen-

Cumulative Incidence Function

No data

Mortality – FinRegistry

Association

Association between endpoint H7_DEGENMYOPIA and mortality.

Females

Parameter HR [95% CI] p-value
H7_DEGENMYOPIA 0.986 [0.85, 1.15] 0.861
Birth year 0.991 [0.98, 1.0] 0.057

During the follow-up period (1.1.1998 — 31.12.2019), 268 out of 1168 females with H7_DEGENMYOPIA died.

Males

Parameter HR [95% CI] p-value
H7_DEGENMYOPIA 0.96 [0.72, 1.27] 0.776
Birth year 0.983 [0.97, 0.99] < 0.001

During the follow-up period (1.1.1998 — 31.12.2019), 79 out of 478 males with H7_DEGENMYOPIA died.

Mortality risk

Mortality risk for people of age

years, who have H7_DEGENMYOPIA.

N-year risk Females Males
1 0.071% 0.19%
5 0.463% 1.034%
10 1.237% 2.553%
15 2.487% 4.715%
20 4.421% 8.143%

Relationships between endpoints

Index endpoint: H7_DEGENMYOPIA – Degenerative myopia

GWS hits: -

Endpoint
Case Overlap
Survival Analysis
Genetic Correlations
Genetic Signals
N (Jaccard index)
HR [CI]
Extremity
rg [CI]
Extremity
Hits
Coloc Hits
FinRegistry
FinnGen
FinRegistry
FinnGen
FinnGen
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