pathological myopia: ['Excessive axial myopia associated with complications (especially posterior staphyloma and CHOROIDAL NEOVASCULARIZATION) that can lead to BLINDNESS.']
Endpoint definition
↥
Endpoint definition steps |
FinnGen |
|---|---|
Phenotype data |
520210 |
1. Apply sex-specific ruleNone |
520210 |
2. Check conditionsNone |
520210 |
3. Check pre-conditions, main-only, mode, registry filtersRegistry filters:
2 out of 7 registries used, show all original rules. |
243 |
4. Check minimum number of eventsNone |
243 |
5. Include endpointsNone |
243 |
6. Filter based on genotype QC (FinnGen only) |
243 |
Control definitions (FinnGen only)
- Control exclude
- H7_VITREOUS
Extra metadata
- Level in the ICD hierarchy
- 4
- First used in FinnGen datafreeze
- DF2
- Parent code in ICD-10
- H44
- Name in latin
- Myopia degenerativa
Similar endpoints
↥List of similar endpoints to
Degenerative myopia
based on the number of shared cases.
Similar with more cases:
- Disorders of globe
- Disorders of vitreous body and globe
- Diseases of the eye and adnexa
- Any event in hilmo or specialist outpatient
- Any prescribed medicine buy
Similar with less cases:
None
Case counts by codes
↥
Summary Statistics
↥-FinRegistry-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | |||
| Whole population | 2133 | 1513 | 608 |
| Only index persons | 1912 | 1363 | 549 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.04 | 0.04 | 0.02 |
| Only index persons | 0.04 | 0.05 | 0.02 |
| Median age at first event (years) | |||
| Whole population | 59.30 | 62.03 | 52.35 |
| Only index persons | 57.27 | 59.91 | 50.71 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 243 | 184 | 59 |
| Unadjusted period prevalence (%) | 0.05 | 0.06 | 0.03 |
| Median age at first event (years) | 56.82 | 56.85 | 56.73 |
-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
No data
CodeWAS (R11)
↥CodeWAS is a tool for exploring the associations between an endpoint and all of the medical codes and drug codes.
This is a new tool, please reach out using the contact form for feedback and improvement ideas.
First, a cohort is built by matching controls to the endpoint cases using year of birth and sex. Then, a Fisher test is done for all the medical codes and drug codes between the cases and controls of this cohort. Codes are reported in the table below if they have −log10(p-value) ≥ 6.
Matched cohort
- Matched cases
- 209
- Matched controls
- 2090
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
H44.2
ICD-10 Finland
Degenerative myopia
+∞
273.6
198
*
H52.1
ICD-10 Finland
Myopia
34.4
53.5
70
30
H26.4
ICD-10 Finland
After-cataract
9.5
31.1
70
105
Z96.1
ICD-10 Finland
Presence of intraocular lens
7.3
28.9
80
164
CJB10
NOMESCO Finland
Laser discission of secondary cataract
8.8
25.7
59
89
XCW99
NOMESCO Finland
Other investigative procedure of eye
6.7
22.5
63
126
H26.02
ICD-10 Finland
Presenil cataract
21.1
21.2
31
17
H35.39
ICD-10 Finland
Degeneration of macula and posterior pole
12.4
18.2
33
31
CJE20
NOMESCO Finland
Phakoemulsification with implantation of artificial lens in posterior chamber
3.8
17.7
105
442
H33.0
ICD-10 Finland
Retinal detachment with retinal break
14.6
16.2
27
21
H54.2
ICD-10 Finland
Moderate visual impairment, binocular
65.2
16.0
18
*
Z01.0
ICD-10 Finland
Examination of eyes and vision
4.3
14.8
62
187
S01CA01
ATC
dexamethasone and antiinfectives; ophthalmic (ophth., corticosteroids and antiinfectives in comb.)
3.2
14.2
110
537
CK2S4
NOMESCO Finland
Plain photography of ocular fundus
7.2
14.1
35
57
3602A
ICD-9 Finland
Disorders of the globe, Degenerative disorders of globe[MYOPIA MALIGNA]
+∞
13.7
13
*
H35.30
ICD-10 Finland
Kuhnt-Junius degeneration
6.9
13.4
34
57
114
Kela drug reimbursment
Glaucoma
5.0
12.7
43
103
CK2X4
NOMESCO Finland
Optical coherence tomography (OCT) of ocular fundus
5.2
12.2
39
88
S01ED51
ATC
timolol, combinations; ophthalmic
5.0
12.0
40
94
H25.1
ICD-10 Finland
Senile nuclear cataract
3.1
12.0
80
344
H43.8
ICD-10 Finland
Other disorders of vitreous body
17.7
11.9
18
11
H33.3
ICD-10 Finland
Retinal breaks without detachment
10.4
10.5
20
21
CKD05
NOMESCO Finland
Puncture of vitreous body with injection of medication
6.2
10.4
28
51
S01EC04
ATC
brinzolamide; ophthalmic
6.9
8.7
21
33
H35.4
ICD-10 Finland
Peripheral retinal degeneration
21.1
8.6
12
6
S01EE01
ATC
latanoprost; ophthalmic
4.8
8.5
28
65
H35.31
ICD-10 Finland
Senile macular degeneration (atrophic)(exudative)
5.6
8.5
24
47
H44.3
ICD-10 Finland
Other degenerative disorders of globe
+∞
8.4
8
*
CS494
NOMESCO Finland
Other visual field testing
12.4
8.2
14
12
H52.3
ICD-10 Finland
Anisometropia and aniseikonia
34.8
8.1
10
*
Z3229
NOMESCO Finland
Other healthcare associate professional
4.0
8.0
32
90
XCK10
NOMESCO Finland
Photography of fundus of eye
3.6
8.0
36
113
CKD65
NOMESCO Finland
Pars plana or pars plicata vitrectomy
10.0
7.9
15
16
S01XA20
ATC
artificial tears and other indifferent preparations; ophthalmic
2.3
7.8
110
681
H26.2
ICD-10 Finland
Complicated cataract
26.1
7.6
10
*
XCK00
NOMESCO Finland
Perimetry
3.9
7.5
31
90
37002
ICD-8 Finland
Refractive errors, Myopia
+∞
7.3
7
*
R5210
NOMESCO Finland
Assessment of the improvements needed in the living environment
+∞
7.3
7
*
S01EE04
ATC
travoprost; ophthalmic
6.5
7.3
18
30
WX100
NOMESCO Finland
Conjunctival surface anesthesia
3.3
7.1
36
124
H40.13
ICD-10 Finland
Chronic glaucoma with open ventricular angle
4.6
6.9
23
55
3610A
ICD-9 Finland
Retinal detachments and defects, Retinal detachment with retinal defect
41.4
6.8
8
*
S01EE05
ATC
tafluprost; ophthalmic
6.1
6.6
17
30
CS424
NOMESCO Finland
Visual field testing with Goldmann perimetry
14.9
6.5
10
7
H53.0
ICD-10 Finland
Amblyopia ex anopsia
14.9
6.5
10
7
ZXA10
NOMESCO Finland
Bilateral
2.6
6.4
53
245
H40.0
ICD-10 Finland
Glaucoma suspect
3.5
6.3
29
93
ZXA00
NOMESCO Finland
Right side
2.3
6.2
68
362
CKC12
NOMESCO Finland
Photocoagulation of retina
5.5
6.2
17
33
Mortality – FinRegistry
↥Association
Association between endpoint H7_DEGENMYOPIA and mortality.
Females
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| H7_DEGENMYOPIA | 0.986 [0.85, 1.15] | 0.861 |
| Birth year | 0.991 [0.98, 1.0] | 0.057 |
During the follow-up period (1.1.1998 — 31.12.2019), 268 out of 1168 females with H7_DEGENMYOPIA died.
Males
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| H7_DEGENMYOPIA | 0.96 [0.72, 1.27] | 0.776 |
| Birth year | 0.983 [0.97, 0.99] | < 0.001 |
During the follow-up period (1.1.1998 — 31.12.2019), 79 out of 478 males with H7_DEGENMYOPIA died.
Mortality risk
Mortality risk for people of age
years, who have H7_DEGENMYOPIA.| N-year risk | Females | Males |
|---|---|---|
| 1 | 0.071% | 0.19% |
| 5 | 0.463% | 1.034% |
| 10 | 1.237% | 2.553% |
| 15 | 2.487% | 4.715% |
| 20 | 4.421% | 8.143% |
Relationships between endpoints
↥Index endpoint: H7_DEGENMYOPIA – Degenerative myopia
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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