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Optic neuritis

DOID EFO Endpoint Browser PheWeb

H7_OPTNEURITIS

optic neuritis: Optic neuritis is inflammation of the optic nerve, the nerve that carries the visual signal from the eye to the brain.The conditionmay cause sudden, reduced vision in the affected eye(s). While the cause of optic neuritis is unknown, it has been associated with autoimmune diseases, infections, multiple sclerosis , drug toxicity and deficiency of vitamin B-12. Vision often returns to normal within 2-3 weeks without treatment. In some cases, corticosteroids are given to speed recovery. If known, the underlying cause should be treated.

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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 — H46
  • Hospital discharge: ICD-9 — 3773
  • Hospital discharge: ICD-8 — 3670[2-9]
  • Cause of death: ICD-10 — H46
  • Cause of death: ICD-9 — 3773
  • Cause of death: ICD-8 — 3670[2-9]

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

1513

4. Check minimum number of events

None

1513

5. Include endpoints

None

1513

6. Filter based on genotype QC (FinnGen only)

1438

Control definitions (FinnGen only)

Control exclude H7_OPTNERVE

Extra metadata

Level in the ICD hierarchy 3
First used in FinnGen datafreeze DF2
Parent code in ICD-10 H46-H48
Name in latin Neuritis optica

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 10403 6920 3413
Only index persons 9515 6484 3031
Unadjusted period prevalence (%)
Whole population 0.16 0.20 0.10
Only index persons 0.20 0.24 0.12
Median age at first event (years)
Whole population 36.47 35.70 38.00
Only index persons 35.76 35.17 37.00

-FinnGen-

Key figures

All Female Male
Number of individuals 1438 1087 351
Unadjusted period prevalence (%) 0.37 0.43 0.18
Median age at first event (years) 36.60 35.78 39.12

-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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Association

Association between endpoint H7_OPTNEURITIS and mortality.

Females

Parameter HR [95% CI] p-value
H7_OPTNEURITIS 1.515 [1.3, 1.76] < 0.001
Birth year 0.997 [0.99, 1.01] 0.525

During the follow-up period (1.1.1998 — 31.12.2019), 352 out of 4881 females with H7_OPTNEURITIS died.

Males

Parameter HR [95% CI] p-value
H7_OPTNEURITIS 1.457 [1.25, 1.69] < 0.001
Birth year 0.988 [0.98, 1.0] 0.009

During the follow-up period (1.1.1998 — 31.12.2019), 331 out of 2288 males with H7_OPTNEURITIS died.

Mortality risk

Mortality risk for people of age

years, who have H7_OPTNEURITIS.

N-year risk Females Males
1 0.204% 0.266%
5 0.939% 1.733%
10 2.566% 4.544%
15 4.917% 8.48%
20 8.402% 13.804%

Relationships between endpoints

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Index endpoint: H7_OPTNEURITIS – Optic neuritis

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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