trochlear nerve disease: Diseases of the fourth cranial (trochlear) nerve or its nucleus in the midbrain. The nerve crosses as it exits the midbrain dorsally and may be injured along its course through the intracranial space, cavernous sinus, superior orbital fissure, or orbit. Clinical manifestations include weakness of the superior oblique muscle which causes vertical DIPLOPIA that is maximal when the affected eye is adducted and directed inferiorly. Head tilt may be seen as a compensatory mechanism for diplopia and rotation of the visual axis. Common etiologies include CRANIOCEREBRAL TRAUMA and INFRATENTORIAL NEOPLASMS.
Disorders of ocular muscles, binocular movement, accommodation and refraction
DOID EFO Endpoint Browser PheWeb
H7_OCUMUSCLE
Endpoint definition
↥
Endpoint definition steps |
FinnGen |
|---|---|
Phenotype data |
473681 |
1. Apply sex-specific ruleNone |
473681 |
2. Check conditionsNone |
473681 |
3. Check pre-conditions, main-only, mode, registry filtersRegistry filters: 2 out of 7 registries used, show all original rules. |
17879 |
4. Check minimum number of eventsNone |
17879 |
5. Include endpoints |
21703 |
6. Filter based on genotype QC (FinnGen only) |
20778 |
Control definitions (FinnGen only)
Controls for this endpoint are individuals that are not cases.
Extra metadata
Level in the ICD hierarchy
2
First used in FinnGen datafreeze
DF2
Disorders of ocular muscles, binocular movement, accommodation and refraction
based on the number of shared cases.
Similar with more cases:
Similar with less cases:
Summary Statistics
↥-FinRegistry-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | |||
| Whole population | 248423 | 136716 | 110987 |
| Only index persons | 208020 | 116371 | 91649 |
| Unadjusted period prevalence (%) | |||
| Whole population | 3.54 | 3.92 | 3.10 |
| Only index persons | 3.93 | 4.28 | 3.50 |
| Median age at first event (years) | |||
| Whole population | 13.60 | 15.31 | 11.30 |
| Only index persons | 18.58 | 21.26 | 15.18 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 20778 | 13266 | 7512 |
| Unadjusted period prevalence (%) | 4.69 | 5.21 | 3.77 |
| Median age at first event (years) | 40.32 | 36.80 | 46.54 |
-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_OCUMUSCLE and mortality.
Females
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| H7_OCUMUSCLE | 1.217 [1.1, 1.34] | < 0.001 |
| Birth year | 0.996 [0.99, 1.0] | 0.298 |
During the follow-up period (1.1.1998 — 31.12.2019), 6074 out of 92689 females with H7_OCUMUSCLE died.
Males
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| H7_OCUMUSCLE | 1.31 [1.18, 1.46] | < 0.001 |
| Birth year | 0.984 [0.97, 0.99] | < 0.001 |
During the follow-up period (1.1.1998 — 31.12.2019), 6047 out of 77046 males with H7_OCUMUSCLE died.
Mortality risk
Mortality risk for people of age
years, who have H7_OCUMUSCLE.| N-year risk | Females | Males |
|---|---|---|
| 1 | 0.153% | 0.232% |
| 5 | 0.804% | 1.397% |
| 10 | 1.805% | 3.451% |
| 15 | 3.508% | 6.696% |
| 20 | 6.108% | 10.742% |
Relationships between endpoints
↥Index endpoint: H7_OCUMUSCLE – Disorders of ocular muscles, binocular movement, accommodation and refraction
GWS hits: 1
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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