Keratoconus

H7_CORNEALDEFORM

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 H18.6
  • Hospital discharge: ICD-9 3716
  • Hospital discharge: ICD-8 37103
  • Cause of death: ICD-10 H18.6
  • Cause of death: ICD-9 3716
  • Cause of death: ICD-8 37103

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

930

4. Check minimum number of events

None

930

5. Include endpoints

None

930

6. Filter based on genotype QC (FinnGen only)

930

Control definitions (FinnGen only)

Control exclude
H7_SCLERACORNEA

Extra metadata

Level in the ICD hierarchy
4
First used in FinnGen datafreeze
DF2
Parent code in ICD-10
H18
Name in latin
Keratoconus

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 7756 2530 5162
Only index persons 7472 2441 5031
Unadjusted period prevalence (%)
Whole population 0.12 0.07 0.14
Only index persons 0.16 0.09 0.19
Median age at first event (years)
Whole population 36.99 41.37 34.91
Only index persons 36.87 41.09 34.82

-FinnGen-

Key figures

All Female Male
Number of individuals 930 403 527
Unadjusted period prevalence (%) 0.19 0.14 0.23
Median age at first event (years) 40.96 43.61 38.92

-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
838
Matched controls
8379
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
H18.6
ICD-10 Finland
Keratoconus
4503599627370496.0
323.0
815
*
Z94.7
ICD-10 Finland
Corneal transplant status
+∞
208.2
191
*
CG2T4
NOMESCO Finland
Topography assessment of cornea
261.2
185.6
184
9
CGG11
NOMESCO Finland
Corneal cross-linking
1677.5
148.5
140
*
CGG45
NOMESCO Finland
Full thickness transplantation of cornea using homograft
+∞
145.1
135
*
CG2X4
NOMESCO Finland
Optical coherence tomography (OCT) of cornea
1437.2
129.7
123
*
XCW99
NOMESCO Finland
Other investigative procedure of eye
11.4
128.0
262
320
WX100
NOMESCO Finland
Conjunctival surface anesthesia
11.7
116.7
233
266
TCG10
NOMESCO Finland
Removal of sutures from cornea
326.7
114.1
113
*
S01XA20
ATC
artificial tears and other indifferent preparations; ophthalmic
5.5
113.0
498
1768
H18.5
ICD-10 Finland
Hereditary corneal dystrophies
856.6
80.8
78
*
3716A
ICD-9 Finland
Corneal opacity and other disorders of cornea, Keratoconus
+∞
75.1
71
*
H52.2
ICD-10 Finland
Astigmatism
29.9
71.0
96
36
Z3229
NOMESCO Finland
Other healthcare associate professional
7.0
63.2
169
290
WX140
NOMESCO Finland
Parabulbar anesthesy
14.6
63.0
109
85
CGD40
NOMESCO Finland
Implantation of intracorneal ring segments
+∞
62.3
59
*
Z96.1
ICD-10 Finland
Presence of intraocular lens
7.1
58.1
153
255
ZXA10
NOMESCO Finland
Bilateral
4.3
54.9
240
716
R5110
NOMESCO Finland
Evaluation of the need for aids, the testing, fitting and choice of the aid, instruction in use and delivery of it
5.0
54.5
197
484
S01CA01
ATC
dexamethasone and antiinfectives; ophthalmic (ophth., corticosteroids and antiinfectives in comb.)
3.4
52.4
342
1418
3604
FHL
Penetration of the cornea
+∞
50.5
48
*
H16.0
ICD-10 Finland
Corneal ulcer
15.4
45.4
76
54
CGD99
NOMESCO Finland
Other operation for error of refraction
+∞
44.1
42
*
WX002
NOMESCO Finland
Sedation and analgesia
3.6
44.0
240
846
37103
ICD-8 Finland
Corneal opacity, Keratoconus
+∞
42.0
40
*
XCK10
NOMESCO Finland
Photography of fundus of eye
4.8
41.7
151
364
Z01.0
ICD-10 Finland
Examination of eyes and vision
3.7
40.3
205
677
CJE20
NOMESCO Finland
Phakoemulsification with implantation of artificial lens in posterior chamber
3.5
39.7
221
782
H16.9
ICD-10 Finland
Keratitis, unspecified
107.6
38.1
41
*
S01BA04
ATC
prednisolone; ophthalmic (corticosteroids, plain)
23.5
37.0
53
24
ZXA00
NOMESCO Finland
Right side
3.0
36.9
271
1160
3718X
ICD-9 Finland
Corneal opacity and other disorders of cornea, Other corneal disorders
+∞
36.7
35
*
TCG30
NOMESCO Finland
Imaging of anterior and posterior part of cornea
+∞
36.7
35
*
ZXA05
NOMESCO Finland
Left side
3.0
35.8
257
1079
CK2S4
NOMESCO Finland
Plain photography of ocular fundus
6.4
34.5
95
164
CG2S4
NOMESCO Finland
Photography of cornea
350.6
34.2
34
*
H20.0
ICD-10 Finland
Acute and subacute iridocyclitis
176.9
32.9
34
*
CGG99
NOMESCO Finland
Other reconstructive operations on cornea and sclera
+∞
32.5
31
*
3619
FHL
Other operations in this group, such as corneal refractive surgery
+∞
31.4
30
*
S01BA01
ATC
dexamethasone; ophthalmic (corticosteroids, plain)
8.3
29.2
66
85
H18.1
ICD-10 Finland
Bullous keratopathy
+∞
27.2
26
*
H18.4
ICD-10 Finland
Corneal degeneration
279.5
26.9
27
*
H18.7
ICD-10 Finland
Other corneal deformities
279.5
26.9
27
*
S01ED01
ATC
timolol; ophthalmic
10.4
26.8
53
54
ZXD20
NOMESCO Finland
Day surgery
3.3
26.3
149
519
H25.1
ICD-10 Finland
Senile nuclear cataract
3.0
25.2
162
616
CK2X4
NOMESCO Finland
Optical coherence tomography (OCT) of ocular fundus
4.3
24.8
97
248
CG2Z4
NOMESCO Finland
Specialised imaging of cornea
133.9
24.7
26
*
Z3231
NOMESCO Finland
Registered nurse
2.4
24.7
256
1284
ZXD10
NOMESCO Finland
Scheduled procedure
2.1
22.3
334
1977
S01GX01
ATC
cromoglicic acid; ophthalmic
2.5
22.0
207
981
S01FA01
ATC
atropine; ophthalmic
51.4
21.2
25
5
S01AD03
ATC
aciclovir; ophthalmic
7.7
21.0
49
67
H18.8
ICD-10 Finland
Other specified disorders of cornea
215.0
20.7
21
*
H26.4
ICD-10 Finland
After-cataract
4.3
19.9
77
194
H18.2
ICD-10 Finland
Other corneal oedema
+∞
19.9
19
*
CGF10
NOMESCO Finland
Suture of laceration of cornea
204.5
19.6
20
*
H26.2
ICD-10 Finland
Complicated cataract
12.2
18.9
34
29
H19.1*B00.5
ICD-10 Finland
Herpesviral keratoconjunctivitis
+∞
18.8
18
*
H16.8
ICD-10 Finland
Other keratitis
+∞
18.8
18
*
ZXE10
NOMESCO Finland
More than one and less than three hours
2.0
18.6
305
1841
CHW99
NOMESCO Finland
Other operation on anterior chamber, anterior chamber angle, iris or ciliary body
194.1
18.6
19
*
TCG00
NOMESCO Finland
Protection of cornea and sclera with soft lens
53.7
18.0
21
*
3606
FHL
Keratophakic corneal surgery
+∞
17.8
17
*
H40.5
ICD-10 Finland
Glaucoma secondary to other eye disorders
22.4
16.9
24
11
ZXE00
NOMESCO Finland
One hour or less
1.9
16.8
337
2173
CJB10
NOMESCO Finland
Laser discission of secondary cataract
4.2
16.8
66
169
S01AX11
ATC
[U] ofloxacin; ophthalmic
5.5
16.1
48
92
L20.0
ICD-10 Finland
Besnier prurigo
3.4
16.1
82
262
S01AA12
ATC
tobramycin; ophthalmic
48.5
16.1
19
*
CGG20
NOMESCO Finland
Epikeratofakia or keratofakia
+∞
15.7
15
*
S01EA03
ATC
apraclonidine; ophthalmic
19.7
15.6
23
12
317
Kela drug reimbursment
Topical pimecrolimus and tacrolimus
8.9
15.3
32
37
H16.2
ICD-10 Finland
Keratoconjunctivitis
57.7
14.8
17
*
S01EA05
ATC
brimonidine; ophthalmic (sympathomimetics in glaucoma therapy)
8.9
14.8
31
36
CGG30
NOMESCO Finland
Anterior lamellar transplantation of cornea
+∞
14.6
14
*
H26.02
ICD-10 Finland
Presenil cataract
5.8
14.5
41
74
69100
ICD-8 Finland
Infantile eczema and related conditions, Eczema atopicum. Prurigo Besnier. Eczema pruriginosum allergicum
8.4
13.9
30
37
CGG31
NOMESCO Finland
Posterior corneal lamellar transplantation
+∞
13.6
13
*
T86.8
ICD-10 Finland
Failure and rejection of other transplanted organs and tissues
142.2
13.5
14
*
D07AA02
ATC
hydrocortisone; topical
2.2
12.9
137
672
9881
FHL
Bandage replacement, suture or spike removal, or the like in an operating room or anesthesia
50.8
12.9
15
*
XCK00
NOMESCO Finland
Perimetry
3.5
12.8
61
186
TCF00
NOMESCO Finland
Subconjunctival therapeutic injection
70.9
12.6
14
*
D11AH01
ATC
tacrolimus; topical
10.7
11.8
22
21
S01EC01
ATC
acetazolamide; systemic
7.5
11.8
27
37
H04.10
ICD-10 Finland
Dry eye syndrome
2.8
11.7
76
287
CFD10
NOMESCO Finland
Repair of conjunctiva
65.9
11.6
13
*
S01ED51
ATC
timolol, combinations; ophthalmic
3.5
11.5
54
163
H17.1
ICD-10 Finland
Other central corneal opacity
+∞
11.5
11
*
S01BA07
ATC
fluorometholone; ophthalmic (corticosteroids, plain)
7.4
11.3
26
36
E000001
ATC
NA
1.9
11.1
170
970
H02AB06
ATC
prednisolone; systemic
1.7
10.7
344
2476
H18.9
ICD-10 Finland
Disorder of cornea, unspecified
60.8
10.6
12
*
H10.3
ICD-10 Finland
Acute conjunctivitis, unspecified
3.0
10.5
60
208
CHB15
NOMESCO Finland
Puncture of anterior chamber of eye with replacement of aqueous
111.3
10.4
11
*
H18.0
ICD-10 Finland
Corneal pigmentations and deposits
+∞
10.4
10
*
D11AX14
ATC
[U] tacrolimus; topical
19.1
10.3
15
8
H17.9
ICD-10 Finland
Corneal scar and opacity, unspecified
+∞
9.4
9
*
S01CA02
ATC
prednisolone and antiinfectives; ophthalmic (ophth., corticosteroids and antiinfectives in comb.)
15.8
9.0
14
9
S01GX08
ATC
ketotifen; ophthalmic
3.8
8.7
36
99
CKD60
NOMESCO Finland
Anterior vitrectomy
14.2
8.7
14
10
H27.0
ICD-10 Finland
Aphakia
50.5
8.7
10
*
D11AH02
ATC
pimecrolimus; topical
16.5
8.6
13
8
S01EE01
ATC
latanoprost; ophthalmic
3.4
8.5
39
117
6918B
ICD-9 Finland
Atopic dermatitis and related conditions, Other atopic dermatitis and related conditions[ECZEMA ATOPICUM]
8.0
8.4
18
23
D07AB02
ATC
hydrocortisone butyrate; topical
1.7
8.4
213
1417
203
Kela drug reimbursment
Chronic asthma and similar chronic obstructive pulmonary diseases
1.8
7.9
142
850
TCW99
NOMESCO Finland
Other minor procedure in eye surgery
7.0
7.8
18
26
L04AA01
ATC
[U] ciclosporin; systemic
6.5
7.7
19
30
S01BC05
ATC
ketorolac; ophthalmic
3.8
7.7
31
84
H02AB04
ATC
methylprednisolone; systemic
1.9
7.6
108
595
S01BC03
ATC
diclofenac; ophthalmic
4.5
7.5
25
57
H20.1
ICD-10 Finland
Chronic iridocyclitis
80.7
7.4
8
*
H17.8
ICD-10 Finland
Other corneal scars and opacities
80.7
7.4
8
*
D07AB08
ATC
desonide; topical
2.1
7.3
82
412
S01AA01
ATC
chloramphenicol; ophthalmic (antibiotics)
2.7
7.3
47
179
R03BA05
ATC
fluticasone; inhalant
1.8
7.2
132
795
CJ2M4
NOMESCO Finland
Scans and measurement printouts for intraocular lens power calculation
8.9
7.1
14
16
CGD20
NOMESCO Finland
Laser-assisted in situ keratomileusis
13.9
6.9
11
8
S01AX12
ATC
[U] norfloxacin; ophthalmic
11.0
6.8
12
11
D11AX15
ATC
[U] pimecrolimus; topical
40.4
6.8
8
*
CGD10
NOMESCO Finland
Laser keratoplasty for error of refraction
16.8
6.8
10
6
Z2221
NOMESCO Finland
Medical doctor
1.6
6.7
206
1435
H54.2
ICD-10 Finland
Moderate visual impairment, binocular
7.9
6.6
14
18
E0000UV
ATC
NA
1.5
6.5
285
2147
J45.0
ICD-10 Finland
Predominantly allergic asthma
2.0
6.5
76
391
CDW99
NOMESCO Finland
Other operation on eyeball
70.3
6.4
7
*
CGF20
NOMESCO Finland
Suture of laceration of cornea with plastic repair of conjunctiva
70.3
6.4
7
*
CGD00
NOMESCO Finland
Keratotomy for error of refraction
70.3
6.4
7
*
ZZL00
NOMESCO Finland
Free graft of amniotic membrane
70.3
6.4
7
*
H02.0
ICD-10 Finland
Entropion and trichiasis of eyelid
6.6
6.4
15
23
XCD10
NOMESCO Finland
Electrophysiological examination of eye
4.2
6.3
22
53
H57.1
ICD-10 Finland
Ocular pain
3.6
6.3
26
73
S01EB01
ATC
pilocarpine; ophthalmic
18.2
6.3
9
5
37102
ICD-8 Finland
Corneal opacity, Dystrophia corneae hereditaria
+∞
6.3
6
*
H16.4
ICD-10 Finland
Corneal neovascularization
+∞
6.3
6
*
Z96.7
ICD-10 Finland
Presence of other bone and tendon implants
+∞
6.3
6
*
CGE10
NOMESCO Finland
Keratectomy
+∞
6.3
6
*
37108
ICD-8 Finland
Corneal opacity, Alia definita
+∞
6.3
6
*
CGW99
NOMESCO Finland
Other operation on cornea or sclera
+∞
6.3
6
*
CJF50
NOMESCO Finland
Removal and implantation of artificial lens in posterior chamber
+∞
6.3
6
*
S05.2
ICD-10 Finland
Ocular laceration and rupture with prolapse or loss of intraocular tissue
+∞
6.3
6
*
H18.3
ICD-10 Finland
Changes in corneal membranes
+∞
6.3
6
*
B00.5
ICD-10 Finland
Herpesviral ocular disease
+∞
6.3
6
*
CS444
NOMESCO Finland
Visual field testing with Octopus automated perimetry
3.5
6.1
26
75
L04AD01
ATC
ciclosporin; systemic
4.1
6.1
22
55
E000002
ATC
NA
1.9
6.0
90
505

Mortality – FinRegistry

Association

Association between endpoint H7_CORNEALDEFORM and mortality.

Females

Parameter HR [95% CI] p-value
H7_CORNEALDEFORM 1.128 [0.92, 1.38] 0.242
Birth year 0.996 [0.99, 1.0] 0.321

During the follow-up period (1.1.1998 — 31.12.2019), 140 out of 1933 females with H7_CORNEALDEFORM died.

Males

Parameter HR [95% CI] p-value
H7_CORNEALDEFORM 1.021 [0.86, 1.21] 0.808
Birth year 0.986 [0.98, 1.0] 0.005

During the follow-up period (1.1.1998 — 31.12.2019), 189 out of 4002 males with H7_CORNEALDEFORM died.

Mortality risk

Mortality risk for people of age

years, who have H7_CORNEALDEFORM.

N-year risk Females Males
1 0.109% 0.207%
5 0.733% 1.187%
10 1.729% 2.947%
15 3.295% 5.608%
20 5.82% 9.48%

Relationships between endpoints

Index endpoint: H7_CORNEALDEFORM – Keratoconus

GWS hits: 5

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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