Risteys · H7_VISIMPBILATERAL

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 — H54.0 Cause of death: ICD-10 — H54.0 2 out of 7 registries used, show all original rules.	164
4. Check minimum number of events None	164
5. Include endpoints None	164
6. Filter based on genotype QC (FinnGen only)	164

Summary Statistics

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-FinRegistry-

Key figures

	All	Female	Male
Number of individuals
Whole population	2294	1145	1123
Only index persons	1910	996	914
Unadjusted period prevalence (%)
Whole population	0.03	0.03	0.03
Only index persons	0.04	0.04	0.03
Median age at first event (years)
Whole population	62.61	64.75	60.11
Only index persons	61.83	64.18	59.26

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	164	87	77
Unadjusted period prevalence (%)	0.03	0.03	0.03
Median age at first event (years)	56.94	52.90	61.49

-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)

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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
146: Matched controls
1457

Code

Vocabulary

Description

Odds Ratio

-log₁₀(p)

N matched cases

N matched controls

H54.0

ICD-10 Finland

Blindness, binocular

+∞

211.0

146

H54.2

ICD-10 Finland

Moderate visual impairment, binocular

321.6

46.9

H40.5

ICD-10 Finland

Glaucoma secondary to other eye disorders

119.6

27.8

S01EC01

ATC

acetazolamide; systemic

37.2

20.0

S01ED01

ATC

timolol; ophthalmic

15.4

18.7

H54.1

ICD-10 Finland

Severe visual impairment, binocular

+∞

17.0

AA1AD

NOMESCO Finland

CT of head and brain

5.1

16.4

195

H35.5

ICD-10 Finland

Hereditary retinal dystrophy

+∞

15.9

F94

ICPC

Blindness

+∞

15.9

R3120

NOMESCO Finland

Training in mobility skills

178.2

15.8

Z3229

NOMESCO Finland

Other healthcare associate professional

7.6

15.7

E10.7

ICD-10 Finland

Type 1 diabetes mellitus, With multiple complications

23.2

15.7

114

Kela drug reimbursment

Glaucoma

7.4

15.1

H54.4

ICD-10 Finland

Blindness, monocular

165.8

14.7

GD1QA

NOMESCO Finland

Supine thorax X-ray examination

5.4

14.2

122

Z50.8

ICD-10 Finland

Care involving use of other rehabilitation procedures

7.9

14.0

S01ED51

ATC

timolol, combinations; ophthalmic

7.7

13.4

A10AA02

ATC

10.8

12.6

R5110

NOMESCO Finland

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

5.9

12.5

CKD40

NOMESCO Finland

Endophotocoagulation of retina

29.6

12.3

A10AB01

ATC

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

10.4

12.3

Z96.1

ICD-10 Finland

Presence of intraocular lens

5.4

12.1

S01EA05

ATC

brimonidine; ophthalmic (sympathomimetics in glaucoma therapy)

14.3

12.0

A28

ICPC

Limited function/disability NOS

4.7

11.7

123

Z90.0

ICD-10 Finland

Acquired absence of part of head and neck

+∞

11.6

H54.7

ICD-10 Finland

Unspecified visual loss

129.7

11.6

A10AA01

ATC

11.5

11.4

H04AA01

ATC

glucagon; nasal, parenteral

15.6

11.3

H33.0

ICD-10 Finland

Retinal detachment with retinal break

17.3

11.1

A10AB04

ATC

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

10.8

10.7

N08.39*E10.2

ICD-10 Finland

Insulin-dependent diabetes mellitus - Diabetic nephropathy

25.6

10.5

H53.1

ICD-10 Finland

Subjective visual disturbances

21.9

10.0

XCK00

NOMESCO Finland

Perimetry

7.6

9.9

H33.4

ICD-10 Finland

Traction detachment of retina

106.6

9.5

37520

ICD-8 Finland

Glaucoma, Secondary

106.6

9.5

E10.2

ICD-10 Finland

Type 1 diabetes mellitus, With renal complications

23.6

9.5

H3603, E103

ICD-10 Finland

23.6

9.5

R5210

NOMESCO Finland

Assessment of the improvements needed in the living environment

+∞

9.5

H53.4

ICD-10 Finland

Visual field defects

+∞

9.5

H44.5

ICD-10 Finland

Degenerated conditions of globe

+∞

9.5

127

Kela drug reimbursment

Transplant complication

20.2

9.1

A10AC01

ATC

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

5.1

9.1

XCK10

NOMESCO Finland

Photography of fundus of eye

5.0

9.1

H36.09*E10.3

ICD-10 Finland

Insulin-dependent diabetes mellitus - Diabetic retinopathy

25.9

9.1

Z2446

NOMESCO Finland

Social worker

7.0

9.0

S01EE01

ATC

latanoprost; ophthalmic

6.0

8.8

E10.00

ICD-10 Finland

Insulin-dependent diabetes diabetic hypoglycemic coma

53.2

8.8

S01FA01

ATC

atropine; ophthalmic

53.2

8.8

WYA30

NOMESCO Finland

Preparations for expected poor cooperation

5.2

8.6

Z49.1

ICD-10 Finland

Extracorporeal dialysis

21.6

8.6

H36.03

ICD-10 Finland

Proliferative diabetic retinopathy

21.6

8.6

CKD15

NOMESCO Finland

Injection of vitreous substitute

95.3

8.5

3690A

ICD-9 Finland

Blindness and low vision, Profound impairment, both eyes

+∞

8.4

Z02.4

ICD-10 Finland

Examination for driving licence

0.0

8.3

193

N08.39

ICD-10 Finland

Glomerular disorders in diabetes mellitus microalbuminuria

35.5

8.2

E10.1

ICD-10 Finland

Type 1 diabetes mellitus, With ketoacidosis

23.6

8.1

Z01.0

ICD-10 Finland

Examination of eyes and vision

3.7

8.1

127

SPAT1231

SPAT

Assessment of adjustments needed in living environment

14.1

8.0

H16.0

ICD-10 Finland

Corneal ulcer

7.1

8.0

GD1UA

NOMESCO Finland

Thorax X-ray examination outside radiological department

3.7

8.0

122

S01XA20

ATC

artificial tears and other indifferent preparations; ophthalmic

2.8

7.9

379

E10.4

ICD-10 Finland

Type 1 diabetes mellitus, With neurological complications

47.5

7.8

ZXD05

NOMESCO Finland

Urgent procedure

2.9

7.8

298

TK800

NOMESCO Finland

Hemodialysis

12.8

7.7

V03AE01

ATC

polystyrene sulfonate; oral

19.6

7.7

Z94.0

ICD-10 Finland

Kidney transplant status

19.6

7.7

S01BA07

ATC

fluorometholone; ophthalmic (corticosteroids, plain)

19.6

7.7

H43.1

ICD-10 Finland

Vitreous haemorrhage

10.9

7.7

Z00.4

ICD-10 Finland

General psychiatric examination, not elsewhere classified

4.9

7.7

CHF05

NOMESCO Finland

Transscleral laser coagulation of ciliary body

26.6

7.7

25000

ICD-8 Finland

Diabetes mellitus, Sine complicatione

9.1

7.5

H54.3

ICD-10 Finland

Mild or no visual impairment, binocular

84.1

7.5

CKD20

NOMESCO Finland

Removal of vitreous body substitute

84.1

7.5

N03AX09

ATC

lamotrigine; oral

10.2

7.5

XCD10

NOMESCO Finland

Electrophysiological examination of eye

11.7

7.5

E10.3

ICD-10 Finland

Type 1 diabetes mellitus, With ophthalmic complications

8.0

7.4

H47.2

ICD-10 Finland

Optic atrophy

+∞

7.3

S01EX03

ATC

12.9

7.2

N10

ICD-10 Finland

Acute tubulo-interstitial nephritis

3.7

7.2

102

N05AH04

ATC

quetiapine; oral

3.6

7.2

114

S01BC03

ATC

diclofenac; ophthalmic

9.0

7.0

L28

ICPC

Limited function/disability (L)

3.4

7.0

123

GD1AA

NOMESCO Finland

Thorax X-ray examination

2.6

6.9

410

S01BA01

ATC

dexamethasone; ophthalmic (corticosteroids, plain)

6.5

6.8

SPAT1220

SPAT

Assessment of need for rehabilitation and/or rehabilitation plan

5.3

6.8

H26.2

ICD-10 Finland

Complicated cataract

17.7

6.8

L04AA01

ATC

[U] ciclosporin; systemic

17.7

6.8

138

Kela drug reimbursment

Severe anaemia associated with chronic renal failure

9.4

6.7

CKD65

NOMESCO Finland

Pars plana or pars plicata vitrectomy

13.1

6.7

123

Kela drug reimbursment

Chronic disorders of vitamin D metabolism

10.8

6.7

A11CC03

ATC

alfacalcidol; systemic

10.8

6.7

2500B

ICD-9 Finland

Diabetes mellitus without mention of complication[DIABETES MELLITUS SINE COMPLICATIONE ,TYYPPI I]

10.8

6.7

H20.0

ICD-10 Finland

Acute and subacute iridocyclitis

8.0

6.6

F32.9

ICD-10 Finland

Depressive episode, unspecified

4.1

6.5

H46

ICD-10 Finland

Optic neuritis

72.9

6.5

2504B

ICD-9 Finland

Diabetes mellitus, Diabetes with renal manifestations[DIABETES MELLITUS CUM COMPLICATIONE OCULI ,TYYPPI I]

72.9

6.5

N05AX08

ATC

risperidone; systemic

4.5

6.4

ZXE10

NOMESCO Finland

More than one and less than three hours

2.5

6.4

343

S01EC04

ATC

brinzolamide; ophthalmic

6.8

6.4

KAS10

NOMESCO Finland

Allogenic transplantation of kidney from cadaver donor

19.0

6.3

KA2AE

NOMESCO Finland

Ultrasound examination transplanted kidney

19.0

6.3

CKD92

NOMESCO Finland

Combined vitrectomy and retinal procedure

19.0

6.3

E10

ICD-10 Finland

Type 1 diabetes mellitus

19.0

6.3

SPAT1229

SPAT

Assessment of need for aid

4.4

6.3

74483

ICD-8 Finland

Congenital anomalies of eye, Retinitis pigmentosa

+∞

6.3

37909

ICD-8 Finland

Blindness, both eyes, specifically defined

+∞

6.3

H55

ICD-10 Finland

Nystagmus and other irregular eye movements

+∞

6.3

N06AX11

ATC

mirtazapine; oral

2.6

6.2

282

J18.9

ICD-10 Finland

Pneumonia, unspecified

2.7

6.0

233

Mortality – FinRegistry

↥

Association

Association between endpoint H7_VISIMPBILATERAL and mortality.

Females

Parameter	HR [95% CI]	p-value
H7_VISIMPBILATERAL	2.117 [1.63, 2.75]	< 0.001
Birth year	0.993 [0.98, 1.0]	0.088

During the follow-up period (1.1.1998 — 31.12.2019), 416 out of 1022 females with H7_VISIMPBILATERAL died.

Males

Parameter	HR [95% CI]	p-value
H7_VISIMPBILATERAL	2.19 [1.67, 2.87]	< 0.001
Birth year	0.988 [0.98, 1.0]	0.014

During the follow-up period (1.1.1998 — 31.12.2019), 413 out of 986 males with H7_VISIMPBILATERAL died.

Mortality risk

Mortality risk for people of age

years, who have H7_VISIMPBILATERAL.

N-year risk	Females	Males
1	0.167%	0.477%
5	0.988%	2.345%
10	2.677%	6.198%
15	5.119%	11.656%
20	9.06%	20.056%

Relationships between endpoints

↥

Index endpoint: H7_VISIMPBILATERAL – Blindness or visual impairment, binocular

GWS hits: 2

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_VISIMPBILATERAL
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	H540
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	H540
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

Blindness or 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