Retinoschisis and retinal cysts

H7_RETINOCHISISCYST

retinal detachment: An eye emergency condition which may lead to blindness if left untreated. It is characterized by the separation of the inner retina layers from the underlying pigment epithelium. Causes include trauma, advanced diabetes mellitus, high myopia, and choroid tumors. Symptoms include sudden appearance of floaters, sudden light flushes, and blurred vision.

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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 H33.1
  • Hospital discharge: ICD-9 3611
  • Hospital discharge: ICD-8 37603
  • Cause of death: ICD-10 H33.1
  • Cause of death: ICD-9 3611
  • Cause of death: ICD-8 37603

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

729

4. Check minimum number of events

None

729

5. Include endpoints

None

729

6. Filter based on genotype QC (FinnGen only)

706

Control definitions (FinnGen only)

Control exclude H7_CHOROIDRETINA

Extra metadata

Level in the ICD hierarchy 4
First used in FinnGen datafreeze DF2
Parent code in ICD-10 H33
Name in latin Retinoschisis et cystae retinales

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 5538 2706 2804
Only index persons 5192 2588 2604
Unadjusted period prevalence (%)
Whole population 0.08 0.08 0.08
Only index persons 0.10 0.10 0.10
Median age at first event (years)
Whole population 62.82 63.54 62.17
Only index persons 62.55 63.27 61.84

-FinnGen-

Key figures

All Female Male
Number of individuals 706 339 367
Unadjusted period prevalence (%) 0.16 0.13 0.18
Median age at first event (years) 63.05 61.66 64.33

-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

Mortality – FinRegistry

Association

Association between endpoint H7_RETINOCHISISCYST and mortality.

Females

Parameter HR [95% CI] p-value
H7_RETINOCHISISCYST 0.746 [0.64, 0.86] < 0.001
Birth year 0.993 [0.98, 1.0] 0.087

During the follow-up period (1.1.1998 — 31.12.2019), 279 out of 2255 females with H7_RETINOCHISISCYST died.

Males

Parameter HR [95% CI] p-value
H7_RETINOCHISISCYST 0.806 [0.7, 0.93] 0.003
Birth year 0.988 [0.98, 1.0] 0.016

During the follow-up period (1.1.1998 — 31.12.2019), 391 out of 2318 males with H7_RETINOCHISISCYST died.

Mortality risk

Mortality risk for people of age

years, who have H7_RETINOCHISISCYST.

N-year risk Females Males
1 0.069% 0.188%
5 0.386% 0.962%
10 0.962% 2.488%
15 1.992% 4.683%
20 3.487% 8.127%

Relationships between endpoints

Index endpoint: H7_RETINOCHISISCYST – Retinoschisis and retinal cysts

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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