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 |
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. |
1887 |
4. Check minimum number of eventsNone |
1887 |
5. Include endpointsNone |
1887 |
6. Filter based on genotype QC (FinnGen only) |
1887 |
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:
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 | 1887 | 1141 | 746 |
| Unadjusted period prevalence (%) | 0.37 | 0.39 | 0.33 |
| Median age at first event (years) | 70.37 | 68.93 | 72.57 |
-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
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
- 1631
- Matched controls
- 16311
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
CKD10
NOMESCO Finland
Insufflation of vitreous cavity
1902.4
323.0
520
*
H35.39
ICD-10 Finland
Degeneration of macula and posterior pole
845.9
323.0
389
6
CKD65
NOMESCO Finland
Pars plana or pars plicata vitrectomy
195.4
323.0
388
26
H35.38
ICD-10 Finland
Preretinal fibrosis of the macula
230.5
323.0
360
20
XCW99
NOMESCO Finland
Other investigative procedure of eye
12.8
323.0
658
815
H35.37
ICD-10 Finland
Macular holes
4503599627370496.0
323.0
1628
*
CKD91
NOMESCO Finland
Extended vitrectomy through pars plana
449.6
323.0
328
9
CKD70
NOMESCO Finland
Excision of preretinal or epiretinal membrane
6747.5
323.0
492
*
CKD94
NOMESCO Finland
Combined vitrectomy and procedure on lens through pars plana
452.2
323.0
351
10
WX140
NOMESCO Finland
Parabulbar anesthesy
100.2
323.0
776
146
S01CA01
ATC
dexamethasone and antiinfectives; ophthalmic (ophth., corticosteroids and antiinfectives in comb.)
8.1
320.7
1209
4249
CK2X4
NOMESCO Finland
Optical coherence tomography (OCT) of ocular fundus
15.8
305.4
536
489
Z96.1
ICD-10 Finland
Presence of intraocular lens
7.5
225.1
627
1248
CJE20
NOMESCO Finland
Phakoemulsification with implantation of artificial lens in posterior chamber
5.5
220.9
1059
4128
CKD40
NOMESCO Finland
Endophotocoagulation of retina
317.2
144.0
144
5
H25.1
ICD-10 Finland
Senile nuclear cataract
4.0
142.5
844
3471
H26.4
ICD-10 Finland
After-cataract
6.3
139.0
418
845
CKD05
NOMESCO Finland
Puncture of vitreous body with injection of medication
143.4
136.6
144
11
H33.0
ICD-10 Finland
Retinal detachment with retinal break
1422.1
136.5
131
*
H35.30
ICD-10 Finland
Kuhnt-Junius degeneration
36.3
126.7
164
50
CJB10
NOMESCO Finland
Laser discission of secondary cataract
6.2
123.8
372
740
CKD92
NOMESCO Finland
Combined vitrectomy and retinal procedure
219.5
119.4
122
6
H35.31
ICD-10 Finland
Senile macular degeneration (atrophic)(exudative)
319.8
117.8
118
*
CK2S4
NOMESCO Finland
Plain photography of ocular fundus
8.6
112.6
261
353
CKC12
NOMESCO Finland
Photocoagulation of retina
60.6
96.6
113
20
H33.3
ICD-10 Finland
Retinal breaks without detachment
243.5
90.5
92
*
WX002
NOMESCO Finland
Sedation and analgesia
3.2
84.6
568
2318
XCK10
NOMESCO Finland
Photography of fundus of eye
4.6
78.0
300
758
Z01.0
ICD-10 Finland
Examination of eyes and vision
3.3
68.4
415
1534
WX142
NOMESCO Finland
Sub-tenon anesthesy
51.8
65.9
79
16
S01ED51
ATC
timolol, combinations; ophthalmic
4.2
62.2
258
691
ZXA05
NOMESCO Finland
Left side
2.6
61.2
616
3109
H35.36
ICD-10 Finland
Macular cyst
+∞
59.7
57
*
ZXA00
NOMESCO Finland
Right side
2.5
59.5
643
3362
WX100
NOMESCO Finland
Conjunctival surface anesthesia
3.1
54.5
346
1297
CKD95
NOMESCO Finland
Extended combined vitectomy and lens procedure through pars plana
263.3
50.4
51
*
H26.2
ICD-10 Finland
Complicated cataract
20.2
45.2
68
35
XCH00
NOMESCO Finland
Eye pressure measurement
5.5
44.9
139
270
H35.7
ICD-10 Finland
Separation of retinal layers
+∞
39.7
38
*
ZXA10
NOMESCO Finland
Bilateral
2.3
37.5
411
2066
CKD20
NOMESCO Finland
Removal of vitreous body substitute
+∞
36.6
35
*
CKD93
NOMESCO Finland
Extended combined procedure on vitreous body and retina
344.1
34.0
34
*
XCD20
NOMESCO Finland
Photoangiography of eye
30.1
33.0
44
15
ZXE00
NOMESCO Finland
One hour or less
1.9
32.8
706
4648
S01XA20
ATC
artificial tears and other indifferent preparations; ophthalmic
1.8
29.6
787
5512
ZXE10
NOMESCO Finland
More than one and less than three hours
1.9
29.5
681
4540
S01BC05
ATC
ketorolac; ophthalmic
4.3
28.1
109
269
CKC10
NOMESCO Finland
Local photocoagulation of retina
65.2
28.0
32
5
CKD15
NOMESCO Finland
Injection of vitreous substitute
275.4
26.8
27
*
CKC20
NOMESCO Finland
Cryopexy of undetached retina
+∞
25.1
24
*
H3601, E113
ICD-10 Finland
NA
+∞
25.1
24
*
H34.8
ICD-10 Finland
Other retinal vascular occlusions
+∞
24.0
23
*
H25.0
ICD-10 Finland
Senile incipient cataract
2.8
23.6
161
610
A98
ICPC
Health maint/preventive medicine
2.8
23.3
1553
14279
H43.8
ICD-10 Finland
Other disorders of vitreous body
2.4
21.6
193
855
H43.1
ICD-10 Finland
Vitreous haemorrhage
6.9
21.2
53
79
H35.8
ICD-10 Finland
Other specified retinal disorders
111.4
20.6
22
*
ZXD30
NOMESCO Finland
Difficulties in perfomrming procedure
3.4
20.5
104
324
Z3231
NOMESCO Finland
Registered nurse
1.7
19.7
479
3141
Z2221
NOMESCO Finland
Medical doctor
1.7
19.5
467
3054
CKC30
NOMESCO Finland
Cryopexy of detached retina
+∞
18.8
18
*
H53.1
ICD-10 Finland
Subjective visual disturbances
2.8
18.7
123
458
H36.01
ICD-10 Finland
Diabetic maculopathy
192.1
18.6
19
*
H3600, E113
ICD-10 Finland
NA
+∞
17.7
17
*
H25.8
ICD-10 Finland
Other senile cataract
2.0
17.2
232
1237
ZXD10
NOMESCO Finland
Scheduled procedure
1.6
16.2
654
4868
TCG40
NOMESCO Finland
Measurement of higher-grade errors of refraction
15.8
15.7
25
16
S01EC01
ATC
acetazolamide; systemic
4.4
14.3
51
118
S01EE01
ATC
latanoprost; ophthalmic
2.3
14.1
137
631
CM2X4
NOMESCO Finland
Follow-up OCT of age-related macular degeneration lesions
75.8
13.6
15
*
CKC60
NOMESCO Finland
Local buckling of sclera using implant
+∞
13.6
13
*
H35.0
ICD-10 Finland
Background retinopathy and retinal vascular changes
141.1
13.5
14
*
CKD50
NOMESCO Finland
Endodiathermy of retina
141.1
13.5
14
*
H35.9
ICD-10 Finland
Retinal disorder, unspecified
50.4
12.8
15
*
H36.03
ICD-10 Finland
Proliferative diabetic retinopathy
+∞
12.5
12
*
H35.6
ICD-10 Finland
Retinal haemorrhage
131.0
12.4
13
*
S01EC54
ATC
brinzolamide, combinations; ophthalmic
5.2
12.2
37
73
XCD10
NOMESCO Finland
Electrophysiological examination of eye
3.5
12.1
55
159
TCW99
NOMESCO Finland
Other minor procedure in eye surgery
4.8
12.1
39
82
H53.9
ICD-10 Finland
Visual disturbance, unspecified
3.2
12.0
62
198
114
Kela drug reimbursment
Glaucoma
1.9
11.7
175
962
CM2S4
NOMESCO Finland
Follow-up photography of age-related macular degeneration lesions
65.4
11.6
13
*
H3603, E113
ICD-10 Finland
NA
+∞
11.5
11
*
CKC70
NOMESCO Finland
Circular buckling of sclera
+∞
11.5
11
*
H54.2
ICD-10 Finland
Moderate visual impairment, binocular
13.7
11.5
19
14
H35.4
ICD-10 Finland
Peripheral retinal degeneration
120.8
11.4
12
*
S01EA05
ATC
brimonidine; ophthalmic (sympathomimetics in glaucoma therapy)
3.2
11.0
57
184
F05
ICPC
Visual disturbance other
3.3
10.8
54
170
CK2M4
NOMESCO Finland
Macular light layer imaging (OCT)
60.4
10.6
12
*
S01ED01
ATC
timolol; ophthalmic
2.7
10.6
74
287
S01EA03
ATC
apraclonidine; ophthalmic
7.0
10.6
25
36
CKC15
NOMESCO Finland
Panretinal photocoagulation
110.7
10.4
11
*
H3600, E103
ICD-10 Finland
NA
+∞
10.4
10
*
S01EC04
ATC
brinzolamide; ophthalmic
2.5
10.3
79
322
XCK00
NOMESCO Finland
Perimetry
2.0
10.3
125
638
E10.7
ICD-10 Finland
Type 1 diabetes mellitus, With multiple complications
6.3
10.2
26
42
S01BC03
ATC
diclofenac; ophthalmic
3.8
9.9
41
111
H36.00
ICD-10 Finland
Diabetic background retinopathy
16.8
9.9
15
9
ZX198
NOMESCO Finland
Other local administration
13.4
9.7
16
12
H3603, E103
ICD-10 Finland
NA
+∞
9.4
9
*
H34.1
ICD-10 Finland
Central retinal artery occlusion
+∞
9.4
9
*
TCA20
NOMESCO Finland
Peribulbar therapeutic injection into orbit
21.8
9.4
13
6
H40.13
ICD-10 Finland
Chronic glaucoma with open ventricular angle
2.2
9.3
93
438
CA1ME
NOMESCO Finland
Ultrasound oculometry
7.3
9.2
21
29
CK2L4
NOMESCO Finland
Wide-field/panoramic imaging of ocular fundus
9.1
9.0
18
20
Z3229
NOMESCO Finland
Other healthcare associate professional
1.9
9.0
140
783
S01EE04
ATC
travoprost; ophthalmic
2.9
8.7
50
173
CA1TM
NOMESCO Finland
Calculation of intraocular lens power
3.3
8.7
42
130
CS424
NOMESCO Finland
Visual field testing with Goldmann perimetry
6.4
8.5
21
33
CKW99
NOMESCO Finland
Other operation on choroid, vitreous body and retina
+∞
8.3
8
*
H34.2
ICD-10 Finland
Other retinal artery occlusions
+∞
8.3
8
*
CHD05
NOMESCO Finland
Selective lasertrabeculoplasty
2.4
8.3
65
272
CS444
NOMESCO Finland
Visual field testing with Octopus automated perimetry
2.6
8.3
60
240
H40.11
ICD-10 Finland
Low pressure glaucoma
3.0
8.2
47
161
H36.09*E11.3
ICD-10 Finland
Non-insulin-dependent diabetes mellitus - Diabetic retinopathy
33.5
8.1
10
*
WX110
NOMESCO Finland
Local anesthesy
1.4
8.1
958
8360
H20.1
ICD-10 Finland
Chronic iridocyclitis
5.7
7.8
21
37
UJF32
NOMESCO Finland
Coloscopy
1.4
7.7
432
3323
S01EE05
ATC
tafluprost; ophthalmic
2.2
7.5
72
332
E10.3
ICD-10 Finland
Type 1 diabetes mellitus, With ophthalmic complications
6.5
7.4
18
28
F99
ICPC
Eye/adnexa disease other
6.5
7.4
18
28
F29
ICPC
Eye symptom/complaint other
1.8
7.3
128
747
H54.6
ICD-10 Finland
Moderate visual impairment, monocular
10.9
7.3
13
12
H3601, E103
ICD-10 Finland
NA
+∞
7.3
7
*
H33.1
ICD-10 Finland
Retinoschisis and retinal cysts
+∞
7.3
7
*
CK9F4
NOMESCO Finland
Fluorescein angiography (FAG) of choroid and retina
30.1
7.1
9
*
TPH04
NOMESCO Finland
Cathetrisation of vein
1.4
7.1
314
2304
H26.8
ICD-10 Finland
Other specified cataract
5.6
7.1
19
34
H40.5
ICD-10 Finland
Glaucoma secondary to other eye disorders
8.3
6.8
14
17
H35
ICD-10 Finland
Other retinal disorders
40.2
6.8
8
*
CA1AE
NOMESCO Finland
Eye and orbita ultrasound examination
7.8
6.6
14
18
H54.7
ICD-10 Finland
Unspecified visual loss
5.9
6.6
17
29
A10AB05
ATC
insulin aspart; parenteral (insulins and analog. for injection, fast-acting)
1.9
6.6
90
481
GD1AA
NOMESCO Finland
Thorax X-ray examination
1.3
6.6
708
6011
215
Kela drug reimbursment
Diabetes, non-insulin-treated
1.4
6.6
361
2758
UJD10
NOMESCO Finland
Esophagoscopy, gastroscopy and duodenoscopy
1.4
6.6
458
3645
XCW10
NOMESCO Finland
Assessment of vision
6.9
6.5
15
22
H53.8
ICD-10 Finland
Other visual disturbances
4.0
6.5
24
61
Z01.7
ICD-10 Finland
Laboratory examination
1.6
6.5
159
1025
H33.4
ICD-10 Finland
Traction detachment of retina
70.1
6.4
7
*
H57.1
ICD-10 Finland
Ocular pain
2.6
6.4
43
168
N08.39*E10.2
ICD-10 Finland
Insulin-dependent diabetes mellitus - Diabetic nephropathy
14.4
6.4
10
7
H40.0
ICD-10 Finland
Glaucoma suspect
1.7
6.4
131
800
R4110
NOMESCO Finland
Physiotherapy
1.4
6.4
408
3197
H36.09*E10.3
ICD-10 Finland
Insulin-dependent diabetes mellitus - Diabetic retinopathy
+∞
6.3
6
*
3610A
ICD-9 Finland
Retinal detachments and defects, Retinal detachment with retinal defect
+∞
6.3
6
*
1LA05
NOMESCO Finland
NA
+∞
6.3
6
*
T89
ICPC
Diabetes insulin dependent
3.0
6.1
33
113
A10AA01
ATC
NA
4.7
6.1
19
41
WX144
NOMESCO Finland
Subconjunctival anesthesy
3.6
6.1
25
70
H26.02
ICD-10 Finland
Presenil cataract
2.5
6.1
44
179
S18
ICPC
Laceration/cut
1.3
6.0
674
5733
H33.5
ICD-10 Finland
Other retinal detachments
10.1
6.0
11
11
25000
ICD-8 Finland
Diabetes mellitus, Sine complicatione
3.2
6.0
29
92
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: 4
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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