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Visual impairment including blindness (binocular or monocular)

DOID EFO Endpoint Browser PheWeb

H7_BLINDANDVISIMPAIRMENT

Endpoint definition

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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
  • Cause of death: ICD-10 — H54

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

2368

4. Check minimum number of events

None

2368

5. Include endpoints

2405

6. Filter based on genotype QC (FinnGen only)

2311

Control definitions (FinnGen only)

Control exclude H7_VISUALDISTBLIND

Extra metadata

Level in the ICD hierarchy 3
First used in FinnGen datafreeze DF2
Parent code in ICD-10 H53-H54
Name in latin Amaurosis et amblyopia

Case counts by codes

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FinnGen case counts by registry codes:

generic upset plot

Upset plot

Full data table

Summary Statistics

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-FinRegistry-

Key figures

All Female Male
Number of individuals
Whole population 26076 14702 11205
Only index persons 22660 13073 9587
Unadjusted period prevalence (%)
Whole population 0.37 0.42 0.31
Only index persons 0.43 0.48 0.37
Median age at first event (years)
Whole population 68.74 74.19 61.57
Only index persons 68.69 74.12 61.29

-FinnGen-

Key figures

All Female Male
Number of individuals 2311 1315 996
Unadjusted period prevalence (%) 0.51 0.52 0.50
Median age at first event (years) 66.55 64.48 69.29

-FinRegistry-

Age distribution of first events

01020304050607080900.0k0.5k1.0k1.5k2.0k2.5k3.0k3.5k4.0k4.5k5.0k5.5k6.0kAgeIndividuals

-FinnGen-

Age distribution of first events

0102030405060708090050100150200250300350400450500AgeIndividuals

-FinRegistry-

Year distribution of first events

197019801985199019952000200520102015202020220.0k0.5k1.0k1.5k2.0k2.5k3.0k3.5k4.0k4.5k5.0k5.5k6.0k6.5k7.0kYearIndividuals

-FinnGen-

Year distribution of first events

197019751980198519901995200020052010201520202023050100150200250300350400450500550600YearIndividuals

-FinRegistry-

Cumulative Incidence Function

01020304050607080901000.00.20.40.60.81.01.21.41.61.82.02.22.42.62.83.0AgeProbability of first incidence (%)

-FinnGen-

Cumulative Incidence Function

01020304050607080901000.00.51.01.52.02.53.03.54.0AgeProbability of first incidence (%)

Mortality – FinRegistry

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Association

Association between endpoint H7_BLINDANDVISIMPAIRMENT and mortality.

Females

Parameter HR [95% CI] p-value
H7_BLINDANDVISIMPAIRMENT 1.228 [1.11, 1.36] < 0.001
Birth year 0.993 [0.99, 1.0] 0.091

During the follow-up period (1.1.1998 — 31.12.2019), 4878 out of 12825 females with H7_BLINDANDVISIMPAIRMENT died.

Males

Parameter HR [95% CI] p-value
H7_BLINDANDVISIMPAIRMENT 1.588 [1.4, 1.81] < 0.001
Birth year 0.986 [0.98, 1.0] 0.003

During the follow-up period (1.1.1998 — 31.12.2019), 3352 out of 9538 males with H7_BLINDANDVISIMPAIRMENT died.

Mortality risk

Mortality risk for people of age

years, who have H7_BLINDANDVISIMPAIRMENT.

N-year risk Females Males
1 0.102% 0.191%
5 0.656% 1.749%
10 1.618% 4.371%
15 3.177% 8.319%
20 5.462% 13.391%

Relationships between endpoints

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Index endpoint: H7_BLINDANDVISIMPAIRMENT – Visual impairment including blindness (binocular or monocular)

GWS hits: 2

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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