macular holes: Perforations through the whole thickness of the retina including the macula as the result of inflammation, trauma, degeneration, etc. The concept includes retinal breaks, tears, dialyses, and holes.
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. |
1631 |
4. Check minimum number of eventsNone |
1631 |
5. Include endpointsNone |
1631 |
6. Filter based on genotype QC (FinnGen only) |
1583 |
Control definitions (FinnGen only)
Control exclude
H7_CHOROIDRETINA
Extra metadata
Level in the ICD hierarchy
5
First used in FinnGen datafreeze
DF2
Parent code in ICD-10
H35
Similar endpoints
↥List of similar endpoints to
Macular hole
based on the number of shared cases.
Similar with more cases:
- Degeneration of macula and posterior pole
- Other retinal disorders
- Disorders of choroid and retina
- Diseases of the eye and adnexa
- Any event in hilmo or specialist outpatient
Similar with less cases:
None
Case counts by codes
↥
Summary Statistics
↥-FinRegistry-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | |||
| Whole population | 10837 | 6967 | 3864 |
| Only index persons | 10716 | 6888 | 3828 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.17 | 0.20 | 0.11 |
| Only index persons | 0.21 | 0.25 | 0.15 |
| Median age at first event (years) | |||
| Whole population | 70.78 | 70.21 | 71.81 |
| Only index persons | 70.75 | 70.16 | 71.82 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 1583 | 949 | 634 |
| Unadjusted period prevalence (%) | 0.35 | 0.37 | 0.32 |
| Median age at first event (years) | 70.43 | 68.93 | 72.67 |
-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 MACULAR_HOLE and mortality.
Females
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| MACULAR_HOLE | 0.823 [0.69, 0.98] | 0.032 |
| Birth year | 0.998 [0.99, 1.01] | 0.693 |
During the follow-up period (1.1.1998 — 31.12.2019), 473 out of 5602 females with MACULAR_HOLE died.
Males
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| MACULAR_HOLE | 0.685 [0.56, 0.84] | < 0.001 |
| Birth year | 0.985 [0.98, 0.99] | 0.003 |
During the follow-up period (1.1.1998 — 31.12.2019), 348 out of 3044 males with MACULAR_HOLE died.
Mortality risk
Mortality risk for people of age
years, who have MACULAR_HOLE.| N-year risk | Females | Males |
|---|---|---|
| 1 | 0.057% | 0.114% |
| 5 | 0.428% | 0.742% |
| 10 | 1.293% | 2.0% |
| 15 | 2.573% | 3.641% |
| 20 | 4.578% | 6.087% |
Relationships between endpoints
↥Index endpoint: MACULAR_HOLE – Macular hole
GWS hits: 3
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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