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Retinoschisis and retinal cysts

DOID EFO Endpoint Browser PheWeb

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

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Endpoint definition steps

FinnGen

Phenotype data

429209

1. Apply sex-specific rule

None

429209

2. Check conditions

None

429209

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.

653

4. Check minimum number of events

None

653

5. Include endpoints

None

653

6. Filter based on genotype QC (FinnGen only)

633

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

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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 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 633 298 335
Unadjusted period prevalence (%) 0.16 0.13 0.18
Median age at first event (years) 62.83 61.13 64.34

-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

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Relationships between endpoints

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Index endpoint: H7_RETINOCHISISCYST – Retinoschisis and retinal cysts

GWS hits: 1

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