Blindness or visual impairment, binocular

H7_VISIMPBILATERAL

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 H54.0
  • Cause of death: ICD-10 H54.0

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

146

4. Check minimum number of events

None

146

5. Include endpoints

None

146

6. Filter based on genotype QC (FinnGen only)

139

Control definitions (FinnGen only)

Control exclude H7_VISUALDISTBLIND

Extra metadata

Level in the ICD hierarchy 4
First used in FinnGen datafreeze DF2
Parent code in ICD-10 H54
Name in latin Amaurosis oculorum amborum

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 2294 1145 1123
Only index persons 1910 996 914
Unadjusted period prevalence (%)
Whole population 0.03 0.03 0.03
Only index persons 0.04 0.04 0.03
Median age at first event (years)
Whole population 62.61 64.75 60.11
Only index persons 61.83 64.18 59.26

-FinnGen-

Key figures

All Female Male
Number of individuals 139 72 67
Unadjusted period prevalence (%) 0.03 0.03 0.03
Median age at first event (years) 56.21 52.53 60.15

-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_VISIMPBILATERAL and mortality.

Females

Parameter HR [95% CI] p-value
H7_VISIMPBILATERAL 2.117 [1.63, 2.75] < 0.001
Birth year 0.993 [0.98, 1.0] 0.088

During the follow-up period (1.1.1998 — 31.12.2019), 416 out of 1022 females with H7_VISIMPBILATERAL died.

Males

Parameter HR [95% CI] p-value
H7_VISIMPBILATERAL 2.19 [1.67, 2.87] < 0.001
Birth year 0.988 [0.98, 1.0] 0.014

During the follow-up period (1.1.1998 — 31.12.2019), 413 out of 986 males with H7_VISIMPBILATERAL died.

Mortality risk

Mortality risk for people of age

years, who have H7_VISIMPBILATERAL.

N-year risk Females Males
1 0.167% 0.477%
5 0.988% 2.345%
10 2.677% 6.198%
15 5.119% 11.656%
20 9.06% 20.056%

Relationships between endpoints

Index endpoint: H7_VISIMPBILATERAL – Blindness or visual impairment, binocular

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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