Risteys · H7_SEVVISIMPBINOC

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 — H54.1 Cause of death: ICD-10 — H54.1 2 out of 7 registries used, show all original rules.	174
4. Check minimum number of events None	174
5. Include endpoints None	174
6. Filter based on genotype QC (FinnGen only)	174

Summary Statistics

↥

-FinRegistry-

Key figures

	All	Female	Male
Number of individuals
Whole population	1513	827	679
Only index persons	1404	779	625
Unadjusted period prevalence (%)
Whole population	0.02	0.02	0.02
Only index persons	0.03	0.03	0.02
Median age at first event (years)
Whole population	74.74	78.44	70.27
Only index persons	74.85	78.51	70.27

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	174	91	83
Unadjusted period prevalence (%)	0.03	0.03	0.04
Median age at first event (years)	72.07	70.61	73.68

-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
149: Matched controls
1489

Code

Vocabulary

Description

Odds Ratio

-log₁₀(p)

N matched cases

N matched controls

H54.1

ICD-10 Finland

Severe visual impairment, binocular

+∞

215.4

149

H54.2

ICD-10 Finland

Moderate visual impairment, binocular

+∞

61.9

S01ED51

ATC

timolol, combinations; ophthalmic

11.8

27.2

CK2S4

NOMESCO Finland

Plain photography of ocular fundus

14.8

23.2

Z96.1

ICD-10 Finland

Presence of intraocular lens

6.9

23.0

165

XCK00

NOMESCO Finland

Perimetry

11.8

19.9

H40.5

ICD-10 Finland

Glaucoma secondary to other eye disorders

80.7

19.3

H53.1

ICD-10 Finland

Subjective visual disturbances

216.1

19.0

Z50.8

ICD-10 Finland

Care involving use of other rehabilitation procedures

9.7

18.8

Z01.0

ICD-10 Finland

Examination of eyes and vision

6.2

18.3

136

H54.0

ICD-10 Finland

Blindness, binocular

+∞

17.0

CS494

NOMESCO Finland

Other visual field testing

45.7

16.8

S01EA05

ATC

brimonidine; ophthalmic (sympathomimetics in glaucoma therapy)

16.2

16.8

S01EC01

ATC

acetazolamide; systemic

14.7

16.7

114

Kela drug reimbursment

Glaucoma

6.3

16.1

101

Z3229

NOMESCO Finland

Other healthcare associate professional

6.7

15.4

H33.0

ICD-10 Finland

Retinal detachment with retinal break

21.2

15.2

S01XA20

ATC

artificial tears and other indifferent preparations; ophthalmic

4.1

15.0

412

H53.4

ICD-10 Finland

Visual field defects

+∞

14.8

GD1AA

NOMESCO Finland

Thorax X-ray examination

4.1

14.8

423

WX140

NOMESCO Finland

Parabulbar anesthesy

10.9

14.5

S01CA01

ATC

dexamethasone and antiinfectives; ophthalmic (ophth., corticosteroids and antiinfectives in comb.)

4.0

14.5

420

S01EE01

ATC

latanoprost; ophthalmic

7.6

14.3

CKD05

NOMESCO Finland

Puncture of vitreous body with injection of medication

8.4

14.1

CKW99

NOMESCO Finland

Other operation on choroid, vitreous body and retina

59.3

14.1

H3603, E103

ICD-10 Finland

82.6

13.8

AA1AD

NOMESCO Finland

CT of head and brain

4.3

13.8

217

XCW99

NOMESCO Finland

Other investigative procedure of eye

5.8

13.8

H47.2

ICD-10 Finland

Optic atrophy

+∞

13.8

H35.31

ICD-10 Finland

Senile macular degeneration (atrophic)(exudative)

7.9

12.9

CKD15

NOMESCO Finland

Injection of vitreous substitute

141.4

12.6

XCK10

NOMESCO Finland

Photography of fundus of eye

6.3

12.6

CKD40

NOMESCO Finland

Endophotocoagulation of retina

41.3

12.5

CJE20

NOMESCO Finland

Phakoemulsification with implantation of artificial lens in posterior chamber

3.6

12.3

413

SPAT1230

SPAT

Aid fitting and borrowing and monitoring of use

4.4

12.2

152

H16.0

ICD-10 Finland

Corneal ulcer

10.2

11.8

H36.09*E10.3

ICD-10 Finland

Insulin-dependent diabetes mellitus - Diabetic retinopathy

129.6

11.6

127

Kela drug reimbursment

Transplant complication

38.3

11.5

S01ED01

ATC

timolol; ophthalmic

7.1

11.3

S01EE03

ATC

bimatoprost; ophthalmic

14.4

11.0

A10AA01

ATC

30.6

10.9

L04AA06

ATC

mycophenolic acid; systemic

30.6

10.9

CKD20

NOMESCO Finland

Removal of vitreous body substitute

64.8

10.8

Z90.0

ICD-10 Finland

Acquired absence of part of head and neck

118.0

10.6

H54.4

ICD-10 Finland

Blindness, monocular

+∞

10.5

E10.7

ICD-10 Finland

Type 1 diabetes mellitus, With multiple complications

20.6

10.5

CHF05

NOMESCO Finland

Transscleral laser coagulation of ciliary body

43.2

10.1

S01EC54

ATC

brinzolamide, combinations; ophthalmic

43.2

10.1

H43.1

ICD-10 Finland

Vitreous haemorrhage

11.9

10.1

H04.10

ICD-10 Finland

Dry eye syndrome

6.5

9.9

N08.39*E10.2

ICD-10 Finland

Insulin-dependent diabetes mellitus - Diabetic nephropathy

58.9

9.8

GD1QA

NOMESCO Finland

Supine thorax X-ray examination

3.7

9.8

180

CKD65

NOMESCO Finland

Pars plana or pars plicata vitrectomy

15.0

9.4

123

Kela drug reimbursment

Chronic disorders of vitamin D metabolism

12.6

9.3

E10.2

ICD-10 Finland

Type 1 diabetes mellitus, With renal complications

39.3

9.1

H36.03

ICD-10 Finland

Proliferative diabetic retinopathy

20.2

9.1

H40.13

ICD-10 Finland

Chronic glaucoma with open ventricular angle

6.6

9.1

SPAT1137

SPAT

Taking care of patient’s/customer’s hygiene

5.2

9.0

XCD10

NOMESCO Finland

Electrophysiological examination of eye

15.3

8.9

SPAT1254

SPAT

Administration of medicine

3.7

8.9

142

A10AB01

ATC

insulin (human); parenteral (insulins and analog. for injection, fast-acting)

9.9

8.8

A11CC03

ATC

alfacalcidol; systemic

12.7

8.8

L04AD01

ATC

ciclosporin; systemic

53.2

8.8

KA2AE

NOMESCO Finland

Ultrasound examination transplanted kidney

53.2

8.8

SPAT1223

SPAT

Implementation of physical therapy rehabilitation plan

3.1

8.7

253

Z94.0

ICD-10 Finland

Kidney transplant status

29.5

8.6

S01EX03

ATC

7.9

8.6

TCG00

NOMESCO Finland

Protection of cornea and sclera with soft lens

95.2

8.5

SPAT1148

SPAT

Treatment of chronic ulcer or burn

3.7

8.4

135

Z97.0

ICD-10 Finland

Presence of artificial eye

+∞

8.4

H35.5

ICD-10 Finland

Hereditary retinal dystrophy

+∞

8.4

CKD94

NOMESCO Finland

Combined vitrectomy and procedure on lens through pars plana

15.7

8.4

H35.30

ICD-10 Finland

Kuhnt-Junius degeneration

4.9

8.3

S01BC05

ATC

ketorolac; ophthalmic

6.1

8.2

H40.10

ICD-10 Finland

Capsular glaucoma with pseudoexfoliation on the anterior lens capsule

7.3

8.2

Z49.1

ICD-10 Finland

Extracorporeal dialysis

23.6

8.1

SPAT1263

SPAT

Sampling

2.8

8.1

407

S01BC03

ATC

diclofenac; ophthalmic

9.3

8.0

111

Kela drug reimbursment

Epilepsy and comparable convulsive disorders

7.4

7.9

L04AD02

ATC

tacrolimus; systemic (calcineurin inhibitors)

47.5

7.8

TK800

NOMESCO Finland

Hemodialysis

12.8

7.7

A10AA02

ATC

7.8

7.7

A10AC01

ATC

insulin (human); parenteral (insulins and analog. for injection, intermediate-acting)

4.6

7.7

S01FA01

ATC

atropine; ophthalmic

26.6

7.7

A10AB05

ATC

insulin aspart; parenteral (insulins and analog. for injection, fast-acting)

5.2

7.6

S01EC04

ATC

brinzolamide; ophthalmic

5.8

7.6

SPAT1222

SPAT

Counselling/guidance promoting independent living

3.3

7.6

152

E10.3

ICD-10 Finland

Type 1 diabetes mellitus, With ophthalmic complications

14.4

7.5

CGG45

NOMESCO Finland

Full thickness transplantation of cornea using homograft

84.1

7.5

CHB10

NOMESCO Finland

Puncture of anterior chamber of eye with irrigation

84.1

7.5

H47.0

ICD-10 Finland

Disorders of optic nerve, not elsewhere classified

84.1

7.5

S01BA01

ATC

dexamethasone; ophthalmic (corticosteroids, plain)

7.2

7.4

H33.4

ICD-10 Finland

Traction detachment of retina

+∞

7.3

Z94.7

ICD-10 Finland

Corneal transplant status

31.7

7.2

I15.1

ICD-10 Finland

Hypertension secondary to other renal disorders

31.7

7.2

KAS10

NOMESCO Finland

Allogenic transplantation of kidney from cadaver donor

31.7

7.2

CK2X4

NOMESCO Finland

Optical coherence tomography (OCT) of ocular fundus

4.7

7.2

CKD70

NOMESCO Finland

Excision of preretinal or epiretinal membrane

12.9

7.2

A10AB04

ATC

insulin lispro; parenteral (insulins and analog. for injection, fast-acting)

10.8

7.2

T89

ICPC

Diabetes insulin dependent

10.8

7.2

SPAT1216

SPAT

Assessment of functional ability

3.3

7.2

145

R5110

NOMESCO Finland

Evaluation of the need for aids, the testing, fitting and choice of the aid, instruction in use and delivery of it

4.1

7.0

F05

ICPC

Visual disturbance other

10.0

6.9

S01EE05

ATC

tafluprost; ophthalmic

7.8

6.9

PBL10

NOMESCO Finland

Construction of arteriovenous fistula from radial artery

17.7

6.8

E10.4

ICD-10 Finland

Type 1 diabetes mellitus, With neurological complications

42.0

6.8

JN3AE

NOMESCO Finland

Abdominal ultrasound examination

3.7

6.7

CJB10

NOMESCO Finland

Laser discission of secondary cataract

3.9

6.7

SPAT1234

SPAT

Support of social functional capacity

4.9

6.7

A10AE04

ATC

insulin glargine; parenteral

4.0

6.6

GD1UA

NOMESCO Finland

Thorax X-ray examination outside radiological department

3.3

6.5

127

H26.02

ICD-10 Finland

Presenil cataract

15.2

6.5

H26.2

ICD-10 Finland

Complicated cataract

15.2

6.5

Z49.0

ICD-10 Finland

Preparatory care for dialysis

72.8

6.5

R5210

NOMESCO Finland

Assessment of the improvements needed in the living environment

72.8

6.5

R3120

NOMESCO Finland

Training in mobility skills

72.8

6.5

NH3AA

NOMESCO Finland

Foot and toes X-ray examination

5.0

6.5

G40.9

ICD-10 Finland

Epilepsy, unspecified

9.9

6.4

S01EA03

ATC

apraclonidine; ophthalmic

11.8

6.4

A12AX

ATC

Calcium, combinations with vitamin D and/or other drugs

2.5

6.4

360

H26.4

ICD-10 Finland

After-cataract

3.7

6.4

H20.0

ICD-10 Finland

Acute and subacute iridocyclitis

7.6

6.4

L04AA01

ATC

[U] ciclosporin; systemic

19.0

6.3

H3601, E103

ICD-10 Finland

+∞

6.3

H54.3

ICD-10 Finland

Mild or no visual impairment, binocular

+∞

6.3

138

Kela drug reimbursment

Severe anaemia associated with chronic renal failure

9.2

6.2

CKD10

NOMESCO Finland

Insufflation of vitreous cavity

13.3

6.2

AA1DG

NOMESCO Finland

Very extensive MRI examination of brain with high intensity magnet

10.7

6.1

A28

ICPC

Limited function/disability NOS

2.8

6.1

189

PH2AE

NOMESCO Finland

Ultrasound examination of lower leg veins

3.6

6.1

C03CA01

ATC

furosemide; systemic

2.4

6.0

430

Mortality – FinRegistry

↥

Association

Association between endpoint H7_SEVVISIMPBINOC and mortality.

Females

Parameter	HR [95% CI]	p-value
H7_SEVVISIMPBINOC	1.435 [1.09, 1.88]	0.009
Birth year	0.988 [0.98, 1.0]	0.008

During the follow-up period (1.1.1998 — 31.12.2019), 296 out of 721 females with H7_SEVVISIMPBINOC died.

Males

Parameter	HR [95% CI]	p-value
H7_SEVVISIMPBINOC	1.576 [1.15, 2.15]	0.004
Birth year	0.989 [0.98, 1.0]	0.019

During the follow-up period (1.1.1998 — 31.12.2019), 257 out of 605 males with H7_SEVVISIMPBINOC died.

Mortality risk

Mortality risk for people of age

years, who have H7_SEVVISIMPBINOC.

N-year risk	Females	Males
1	0.115%	0.294%
5	0.592%	1.968%
10	1.64%	4.809%
15	3.245%	9.312%
20	5.846%	15.604%

Relationships between endpoints

↥

Index endpoint: H7_SEVVISIMPBINOC – Severe visual impairment, binocular

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

Loading data

NAME	H7_SEVVISIMPBINOC
CONTROL_EXCLUDE	H7_VISUALDISTBLIND
CONTROL_PRECONDITIONS
CONTROL_CONDITIONS
SEX
INCLUDE
PRE_CONDITIONS
CONDITIONS
OUTPAT_ICD
OUTPAT_OPER
HD_MAINONLY
HD_ICD_10_ATC
HD_ICD_10	H541
HD_ICD_9	$!$	The FinnGen clinical team has checked and no code can be used for this rule.
HD_ICD_8	$!$	The FinnGen clinical team has checked and no code can be used for this rule.
HD_ICD_10_EXCL
HD_ICD_9_EXCL
HD_ICD_8_EXCL
COD_MAINONLY
COD_ICD_10	H541
COD_ICD_9	$!$	The FinnGen clinical team has checked and no code can be used for this rule.
COD_ICD_8	$!$	The FinnGen clinical team has checked and no code can be used for this rule.
COD_ICD_10_EXCL
COD_ICD_9_EXCL
COD_ICD_8_EXCL
OPER_NOM
OPER_HL
OPER_HP1
OPER_HP2
KELA_REIMB
KELA_REIMB_ICD
KELA_ATC_NEEDOTHER
KELA_ATC
KELA_VNRO_NEEDOTHER
KELA_VNRO
CANC_TOPO
CANC_TOPO_EXCL
CANC_MORPH
CANC_MORPH_EXCL
CANC_BEHAV

Severe visual impairment, binocular

Endpoint definition

Endpoint definition steps

FinnGen

Phenotype data

1. Apply sex-specific rule

2. Check conditions

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

4. Check minimum number of events

5. Include endpoints

6. Filter based on genotype QC (FinnGen only)

Similar endpoints

Case counts by codes

Summary Statistics

-FinRegistry-

Key figures

-FinnGen-

Key figures

-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)

Matched cohort

Mortality – FinRegistry

Association

Females

Males

Mortality risk

Relationships between endpoints