Amblyopia ex anopsia

H7_AMBLYANOPSIA

Endpoint definition

Endpoint definition steps

FinnGen

Phenotype data

520210

1. Apply sex-specific rule

None

520210

2. Check conditions

None

520210

3. Check pre-conditions, main-only, mode, registry filters

Registry filters:

  • Hospital discharge: ICD-10 H53.0
  • Hospital discharge: ICD-9 3680A
  • Hospital discharge: ICD-8 37720
  • Cause of death: ICD-10 H53.0
  • Cause of death: ICD-9 3680A
  • Cause of death: ICD-8 37720

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

1646

4. Check minimum number of events

None

1646

5. Include endpoints

None

1646

6. Filter based on genotype QC (FinnGen only)

1646

Control definitions (FinnGen only)

Control exclude
H7_VISUALDISTBLIND

Extra metadata

Level in the ICD hierarchy
4
First used in FinnGen datafreeze
DF2
Parent code in ICD-10
H53
Name in latin
Amblyopia ex anopsia

Case counts by codes

FinnGen case counts by registry codes:

generic upset plot

Upset plot

Full data table

Summary Statistics

-FinRegistry-

Key figures

All Female Male
Number of individuals
Whole population 31190 15645 15478
Only index persons 23884 12205 11679
Unadjusted period prevalence (%)
Whole population 0.44 0.45 0.43
Only index persons 0.45 0.45 0.45
Median age at first event (years)
Whole population 6.33 6.37 6.15
Only index persons 6.77 6.98 6.55

-FinnGen-

Key figures

All Female Male
Number of individuals 1646 1023 623
Unadjusted period prevalence (%) 0.32 0.35 0.27
Median age at first event (years) 17.40 12.90 24.79

-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
1463
Matched controls
14631
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
H53.0
ICD-10 Finland
Amblyopia ex anopsia
9455.5
323.0
1169
6
37720
ICD-8 Finland
Other diseases of retina and optic nerve, Amblyopia
+∞
236.0
220
*
H50.0
ICD-10 Finland
Convergent concomitant strabismus
39.3
119.6
152
43
H52.0
ICD-10 Finland
Hypermetropia
16.5
115.3
191
132
3680A
ICD-9 Finland
Visual disturbances, Amblyopia ex anopsia
+∞
107.6
102
*
37300
ICD-8 Finland
Strabismus, Concomitans convergens
51.6
91.5
110
23
H52.3
ICD-10 Finland
Anisometropia and aniseikonia
33.8
77.0
101
32
H52.2
ICD-10 Finland
Astigmatism
14.8
75.2
129
95
H50.1
ICD-10 Finland
Divergent concomitant strabismus
31.4
72.7
97
33
Z01.0
ICD-10 Finland
Examination of eyes and vision
3.2
54.6
343
1289
H53.1
ICD-10 Finland
Subjective visual disturbances
10.4
48.3
97
99
H50.30
ICD-10 Finland
Intermittent esotropy
20.4
47.9
72
37
Z96.1
ICD-10 Finland
Presence of intraocular lens
4.0
47.1
205
571
H50.31
ICD-10 Finland
Intermittent exotropia
12.8
46.6
84
69
CEC10
NOMESCO Finland
Recession and resection of extraocular muscle
20.6
46.1
69
35
37301
ICD-8 Finland
Strabismus, Concomitans divergens
21.5
40.7
60
29
XCK00
NOMESCO Finland
Perimetry
4.9
38.6
134
297
XCW99
NOMESCO Finland
Other investigative procedure of eye
3.3
34.2
186
614
H53.2
ICD-10 Finland
Diplopia
26.6
32.0
44
17
H53.4
ICD-10 Finland
Visual field defects
36.4
30.7
39
11
CJE20
NOMESCO Finland
Phakoemulsification with implantation of artificial lens in posterior chamber
2.3
29.8
325
1619
S01CA01
ATC
dexamethasone and antiinfectives; ophthalmic (ophth., corticosteroids and antiinfectives in comb.)
2.1
28.7
415
2337
3780A
ICD-9 Finland
Strabismus and other disorders of binocular eye movements, Convergent concomitant strabismus[STRABISMUS CONCOMITANS CONVERGENS]
65.3
28.0
32
5
H54.2
ICD-10 Finland
Moderate visual impairment, binocular
102.0
27.7
30
*
H52.1
ICD-10 Finland
Myopia
4.4
26.8
100
238
37001
ICD-8 Finland
Refractive errors, Hypermetropia. Hyperopia
142.6
26.7
28
*
H54.5
ICD-10 Finland
Severe visual impairment, monocular
35.1
24.3
31
9
H25.8
ICD-10 Finland
Other senile cataract
3.1
24.0
141
489
H54.7
ICD-10 Finland
Unspecified visual loss
28.7
23.2
31
11
CK2X4
NOMESCO Finland
Optical coherence tomography (OCT) of ocular fundus
3.1
22.4
128
435
Z50.8
ICD-10 Finland
Care involving use of other rehabilitation procedures
3.0
21.2
127
447
3503
FHL
Single muscle retroposition
23.8
20.0
28
12
Z3229
NOMESCO Finland
Other healthcare associate professional
2.6
19.4
153
634
H50.2
ICD-10 Finland
Vertical strabismus
14.2
19.1
32
23
37003
ICD-8 Finland
Refractive errors, Anisometropia
+∞
18.8
18
*
CJB10
NOMESCO Finland
Laser discission of secondary cataract
3.2
18.5
101
333
3781A
ICD-9 Finland
Strabismus and other disorders of binocular eye movements, Divergent concomitant strabismus[STRABISMUS CONCOMITANS DIVERGENS]
171.8
16.5
17
*
XCK10
NOMESCO Finland
Photography of fundus of eye
2.5
16.5
132
550
CEC00
NOMESCO Finland
Recession of extraocular muscle
13.6
16.5
28
21
H53.3
ICD-10 Finland
Other disorders of binocular vision
40.6
16.3
20
5
H53.9
ICD-10 Finland
Visual disturbance, unspecified
6.0
16.1
44
75
3671A
ICD-9 Finland
Disorders of refraction and accommodation, Myopia
161.6
15.5
16
*
H25.1
ICD-10 Finland
Senile nuclear cataract
1.9
15.5
233
1297
H26.4
ICD-10 Finland
After-cataract
2.8
15.5
104
394
CK2S4
NOMESCO Finland
Plain photography of ocular fundus
3.1
15.2
83
275
3507
FHL
Retroposition and resection
45.5
15.1
18
*
Q12.0
ICD-10 Finland
Congenital cataract
36.4
14.5
18
5
ZXA10
NOMESCO Finland
Bilateral
1.8
14.1
248
1459
H50.52
ICD-10 Finland
Exophoria
5.2
13.8
42
82
H55
ICD-10 Finland
Nystagmus and other irregular eye movements
13.7
13.7
23
17
R51.80
ICD-10 Finland
Headache
1.9
13.7
234
1359
WX100
NOMESCO Finland
Conjunctival surface anesthesia
2.4
13.5
120
532
H35.30
ICD-10 Finland
Kuhnt-Junius degeneration
3.3
12.8
63
194
XCD10
NOMESCO Finland
Electrophysiological examination of eye
4.3
12.4
45
107
S01XA20
ATC
artificial tears and other indifferent preparations; ophthalmic
1.6
12.3
416
2940
SPAT1263
SPAT
Sampling
1.5
12.1
594
4574
Z71.3
ICD-10 Finland
Dietary counselling and surveillance
2.6
12.1
87
345
H25.0
ICD-10 Finland
Senile incipient cataract
2.9
12.0
71
249
Z31.5
ICD-10 Finland
Genetic counselling
2.6
11.8
89
361
R5110
NOMESCO Finland
Evaluation of the need for aids, the testing, fitting and choice of the aid, instruction in use and delivery of it
2.1
11.6
138
698
R2130
NOMESCO Finland
Counselling and guidance which enhance independent living
2.1
11.3
134
677
3505
FHL
Single muscle resection
35.3
11.3
14
*
GD1AA
NOMESCO Finland
Thorax X-ray examination
1.5
11.2
472
3498
G80.1
ICD-10 Finland
Spastic diplegic cerebral palsy
25.2
11.1
15
6
H50.51
ICD-10 Finland
Esophoria
10.1
11.0
21
21
AA1CG
NOMESCO Finland
Extensive MRI examination of brain with high intensity magnet
2.2
11.0
118
571
H33.0
ICD-10 Finland
Retinal detachment with retinal break
4.1
10.7
41
103
H27.0
ICD-10 Finland
Aphakia
28.2
10.7
14
5
CEC50
NOMESCO Finland
Advancement of extraocular muscle
+∞
10.4
10
*
SPAT1301
SPAT
No procedures
1.5
10.4
434
3196
SPAT1033
SPAT
Irrigation or wax removal of outer auditory canal
1.7
9.8
200
1223
WX140
NOMESCO Finland
Parabulbar anesthesy
3.2
9.8
50
160
Z01.8
ICD-10 Finland
Other specified special examinations
1.6
9.8
258
1700
SPAT1262
SPAT
Handing over of treatment supplies
1.7
9.7
197
1202
H47.2
ICD-10 Finland
Optic atrophy
17.6
9.4
14
8
AA1BG
NOMESCO Finland
Standard MRI examination of brain with high intensity magnet
2.0
9.4
115
587
FM1EE
NOMESCO Finland
Extensive structural and functional ultrasound examination of heart
1.7
9.3
226
1457
SPAT1216
SPAT
Assessment of functional ability
1.8
9.1
156
903
H40.0
ICD-10 Finland
Glaucoma suspect
2.3
9.0
81
363
3780B
ICD-9 Finland
Strabismus and other disorders of binocular eye movements, Convergent concomitant strabismus[STRABISMUS CONVERGENS ALTERNANS]
36.9
9.0
11
*
3781B
ICD-9 Finland
Strabismus and other disorders of binocular eye movements, Divergent concomitant strabismus[STRABISMUS DIVERGENS ALTERNANS]
36.9
9.0
11
*
H50.9
ICD-10 Finland
Strabismus, unspecified
8.0
8.9
19
24
WX408
NOMESCO Finland
General anesthesy, balanced
1.5
8.8
347
2512
Z00.4
ICD-10 Finland
General psychiatric examination, not elsewhere classified
1.7
8.7
177
1083
G80.0
ICD-10 Finland
Spastic quadriplegic cerebral palsy
20.1
8.5
12
6
H26.02
ICD-10 Finland
Presenil cataract
3.8
8.5
34
91
H43.8
ICD-10 Finland
Other disorders of vitreous body
2.2
8.4
82
383
CEC60
NOMESCO Finland
Transposition of extraocular muscle with adjustable suture
90.5
8.4
9
*
CS424
NOMESCO Finland
Visual field testing with Goldmann perimetry
6.7
8.4
20
30
37000
ICD-8 Finland
Refractive errors, Astigmatismus
+∞
8.3
8
*
WX110
NOMESCO Finland
Local anesthesy
1.4
8.2
950
8353
CEC30
NOMESCO Finland
Resection of extraocular muscle
14.6
8.2
13
9
ZXE20
NOMESCO Finland
More than three and less than five hours
1.7
8.1
160
971
SFA10
NOMESCO Finland
Fillning on one surface of tooth
1.4
8.1
734
6187
ZXA05
NOMESCO Finland
Left side
1.5
8.0
262
1814
N05BA01
ATC
diazepam; systemic, rectal
1.8
7.9
148
880
XA800
NOMESCO Finland
Neuropsychological investigation
2.2
7.8
74
339
CEW99
NOMESCO Finland
Other operation on extraocular muscle
45.2
7.7
9
*
F95
ICPC
Strabismus
45.2
7.7
9
*
R29.8
ICD-10 Finland
Other and unspecified symptoms and signs involving the nervous and musculoskeletal systems
2.0
7.7
94
481
AA1AD
NOMESCO Finland
CT of head and brain
1.6
7.7
220
1477
ZXA00
NOMESCO Finland
Right side
1.5
7.6
271
1910
111
Kela drug reimbursment
Epilepsy and comparable convulsive disorders
2.2
7.6
74
346
H90.3
ICD-10 Finland
Sensorineural hearing loss, bilateral
1.7
7.6
145
870
K02.1
ICD-10 Finland
Caries of dentine
1.4
7.5
788
6769
Z03.89
ICD-10 Finland
Observation for other suspected diseases and conditions
1.6
7.4
185
1199
114
Kela drug reimbursment
Glaucoma
2.1
7.3
81
401
S01ED01
ATC
timolol; ophthalmic
2.9
7.2
42
148
3626
FHL
Extracapsular cataract surgery and implantation of an artificial lens
6.3
7.2
18
29
EB1AA
NOMESCO Finland
Tooth X-ray examination
1.4
7.2
673
5654
Q21.10
ICD-10 Finland
Persistent ostium secundum
4.3
7.2
25
59
H03AA01
ATC
levothyroxine sodium; systemic
1.5
7.2
234
1617
37929
ICD-8 Finland
Blindness, one eye, specifically defined
20.1
7.1
10
5
H44.2
ICD-10 Finland
Degenerative myopia
20.1
7.1
10
5
QA4S1
NOMESCO Finland
Photography of skin or subcutaneous tissue in face
6.6
7.1
17
26
TPH04
NOMESCO Finland
Cathetrisation of vein
1.5
7.1
226
1556
G91.1
ICD-10 Finland
Obstructive hydrocephalus
8.8
7.0
14
16
Z2445
NOMESCO Finland
Psychologist
1.9
7.0
95
508
CKD65
NOMESCO Finland
Pars plana or pars plicata vitrectomy
4.0
7.0
26
66
R1230
NOMESCO Finland
Neuropsychological evaluation of need and possibilities to rehabilitation
3.2
7.0
34
108
F32.11
ICD-10 Finland
Moderate depressive episode with somatic syndrome
2.8
6.9
41
148
602
Kela drug reimbursment
Children's severe malnutrition
3.5
6.8
29
83
SPAT1153
SPAT
Removal of sutures
1.4
6.8
322
2403
XCD00
NOMESCO Finland
Clinical examination of eye in general anaesthesia
9.4
6.8
13
14
CEC20
NOMESCO Finland
Recession and advancement of extraocular muscle
40.2
6.8
8
*
37002
ICD-8 Finland
Refractive errors, Myopia
40.2
6.8
8
*
F82
ICD-10 Finland
Specific developmental disorder of motor function
3.5
6.7
29
84
SFA20
NOMESCO Finland
Filling on two surfaces of tooth
1.3
6.7
707
6033
F79.0
ICD-10 Finland
Unspecified mental retardation, with the statement of no, or minimal, impairment of behaviour
4.9
6.7
20
41
SPAT1220
SPAT
Assessment of need for rehabilitation and/or rehabilitation plan
2.0
6.7
80
408
N06AB10
ATC
escitalopram; oral
1.5
6.6
250
1785
Z3231
NOMESCO Finland
Registered nurse
1.4
6.6
356
2723
H40.5
ICD-10 Finland
Glaucoma secondary to other eye disorders
5.9
6.6
17
29
NA7EA
NOMESCO Finland
Scoliosis X-ray examination
3.1
6.6
34
113
SPAT1230
SPAT
Aid fitting and borrowing and monitoring of use
1.6
6.6
161
1038
F83
ICD-10 Finland
Mixed specific developmental disorders
3.0
6.5
35
119
SPAT1223
SPAT
Implementation of physical therapy rehabilitation plan
1.4
6.5
310
2315
SFC01
NOMESCO Finland
Adjuvant procedure of filling therapy
1.4
6.5
285
2095
R62.0
ICD-10 Finland
Delayed milestone
2.8
6.5
39
143
TAB00
NOMESCO Finland
Lumbar puncture
2.3
6.4
58
263
Q14.2
ICD-10 Finland
Congenital malformation of optic disc
70.1
6.4
7
*
G40.9
ICD-10 Finland
Epilepsy, unspecified
2.5
6.4
47
193
WYA30
NOMESCO Finland
Preparations for expected poor cooperation
1.7
6.4
117
694
C07AA05
ATC
propranolol; systemic
1.5
6.3
215
1501
Z94.0
ICD-10 Finland
Kidney transplant status
4.2
6.3
22
53
N03AG01
ATC
valproic acid; systemic, rectal
2.0
6.3
76
392
SPAT1312
SPAT
General health counselling
1.3
6.3
487
3952
3670A
ICD-9 Finland
Disorders of refraction and accommodation, Hypermetropia
+∞
6.3
6
*
H54.0
ICD-10 Finland
Blindness, binocular
+∞
6.3
6
*
3673A
ICD-9 Finland
Disorders of refraction and accommodation, Anisometropia and aniseikonia
+∞
6.3
6
*
SPAT1310
SPAT
Counselling related to known health issue
1.4
6.2
434
3459
Z2446
NOMESCO Finland
Social worker
1.7
6.2
121
729
3768
FHL
Eye examination under general anesthesia
26.8
6.2
8
*
TCW99
NOMESCO Finland
Other minor procedure in eye surgery
4.8
6.2
19
40
N03AX16
ATC
pregabalin; oral
1.5
6.2
218
1531
A12AX
ATC
Calcium, combinations with vitamin D and/or other drugs
1.4
6.2
284
2102
S01ED51
ATC
timolol, combinations; ophthalmic
2.0
6.2
70
351
S01FA01
ATC
atropine; ophthalmic
7.7
6.1
13
17
R56.8
ICD-10 Finland
Other and unspecified convulsions
2.0
6.1
76
394
N05BA04
ATC
oxazepam; oral
1.5
6.1
257
1874
WX404
NOMESCO Finland
Intravenous generell anesthesy
1.5
6.1
258
1881
WX704
NOMESCO Finland
Intubation
1.9
6.1
88
486
H35.0
ICD-10 Finland
Background retinopathy and retinal vascular changes
8.6
6.1
12
14
WX400
NOMESCO Finland
Inhalation anesthesy
2.0
6.0
72
370
N06AB03
ATC
fluoxetine; oral
1.6
6.0
145
930
N06AB06
ATC
sertraline; oral
1.7
6.0
134
842
H04.10
ICD-10 Finland
Dry eye syndrome
1.8
6.0
97
554
G47.3
ICD-10 Finland
Sleep apnoea
1.5
6.0
189
1292
S01EC01
ATC
acetazolamide; systemic
3.5
6.0
26
76
SPAT1053
SPAT
Memory test
1.7
6.0
114
683

Mortality – FinRegistry

Association

Association between endpoint H7_AMBLYANOPSIA and mortality.

Females

Parameter HR [95% CI] p-value
H7_AMBLYANOPSIA 1.145 [0.96, 1.36] 0.129
Birth year 0.993 [0.98, 1.0] 0.109

During the follow-up period (1.1.1998 — 31.12.2019), 491 out of 12381 females with H7_AMBLYANOPSIA died.

Males

Parameter HR [95% CI] p-value
H7_AMBLYANOPSIA 1.106 [0.9, 1.36] 0.347
Birth year 0.988 [0.98, 1.0] 0.011

During the follow-up period (1.1.1998 — 31.12.2019), 396 out of 12315 males with H7_AMBLYANOPSIA died.

Mortality risk

Mortality risk for people of age

years, who have H7_AMBLYANOPSIA.

N-year risk Females Males
1 0.091% 0.197%
5 0.531% 1.439%
10 1.477% 3.554%
15 3.156% 6.592%
20 5.152% 10.904%

Relationships between endpoints

Index endpoint: H7_AMBLYANOPSIA – Amblyopia ex anopsia

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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