Risteys · H7_BLINDMONOCULAR

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 — H54.4 Cause of death: ICD-10 — H54.4 2 out of 7 registries used, show all original rules.	313
4. Check minimum number of events None	313
5. Include endpoints None	313
6. Filter based on genotype QC (FinnGen only)	313

Summary Statistics

↥

-FinRegistry-

Key figures

	All	Female	Male
Number of individuals
Whole population	2797	1353	1421
Only index persons	2501	1233	1268
Unadjusted period prevalence (%)
Whole population	0.04	0.04	0.04
Only index persons	0.05	0.05	0.05
Median age at first event (years)
Whole population	68.28	72.20	64.44
Only index persons	67.17	71.56	62.91

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	313	162	151
Unadjusted period prevalence (%)	0.06	0.06	0.07
Median age at first event (years)	64.27	62.76	65.88

-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
283: Matched controls
2829

Code

Vocabulary

Description

Odds Ratio

-log₁₀(p)

N matched cases

N matched controls

H54.4

ICD-10 Finland

Blindness, monocular

+∞

323.0

282

H40.5

ICD-10 Finland

Glaucoma secondary to other eye disorders

90.8

42.3

114

Kela drug reimbursment

Glaucoma

9.2

38.5

132

XCK00

NOMESCO Finland

Perimetry

12.5

37.6

S01ED51

ATC

timolol, combinations; ophthalmic

9.9

36.7

106

XCW99

NOMESCO Finland

Other investigative procedure of eye

6.5

29.4

179

Z96.1

ICD-10 Finland

Presence of intraocular lens

5.6

28.6

242

H33.0

ICD-10 Finland

Retinal detachment with retinal break

20.1

28.6

S01EC01

ATC

acetazolamide; systemic

22.0

27.5

S01ED01

ATC

timolol; ophthalmic

11.2

25.8

S01CA01

ATC

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

3.8

24.8

157

697

S01XA20

ATC

artificial tears and other indifferent preparations; ophthalmic

3.7

24.3

169

808

H53.4

ICD-10 Finland

Visual field defects

136.6

24.0

S01EE01

ATC

latanoprost; ophthalmic

7.8

22.4

H54.2

ICD-10 Finland

Moderate visual impairment, binocular

237.6

21.9

H43.1

ICD-10 Finland

Vitreous haemorrhage

16.5

21.8

CKD05

NOMESCO Finland

Puncture of vitreous body with injection of medication

7.8

21.7

H53.1

ICD-10 Finland

Subjective visual disturbances

17.4

21.7

Z01.0

ICD-10 Finland

Examination of eyes and vision

4.4

21.0

257

S01EC04

ATC

brinzolamide; ophthalmic

12.4

20.9

CK2X4

NOMESCO Finland

Optical coherence tomography (OCT) of ocular fundus

6.2

20.1

110

CK2S4

NOMESCO Finland

Plain photography of ocular fundus

7.8

18.7

H34.1

ICD-10 Finland

Central retinal artery occlusion

56.4

18.2

H16.0

ICD-10 Finland

Corneal ulcer

8.2

17.2

XCK10

NOMESCO Finland

Photography of fundus of eye

4.5

17.1

179

AA1AD

NOMESCO Finland

CT of head and brain

3.4

16.8

102

404

S01EA05

ATC

brimonidine; ophthalmic (sympathomimetics in glaucoma therapy)

11.0

15.9

H54.0

ICD-10 Finland

Blindness, binocular

+∞

15.8

H44.5

ICD-10 Finland

Degenerated conditions of globe

169.0

15.6

S01EC03

ATC

dorzolamide; ophthalmic

17.4

15.5

H34.8

ICD-10 Finland

Other retinal vascular occlusions

11.0

15.4

CHF05

NOMESCO Finland

Transscleral laser coagulation of ciliary body

38.3

14.6

CJE20

NOMESCO Finland

Phakoemulsification with implantation of artificial lens in posterior chamber

2.8

14.4

129

651

CKD65

NOMESCO Finland

Pars plana or pars plicata vitrectomy

10.2

13.8

CKD40

NOMESCO Finland

Endophotocoagulation of retina

17.3

13.7

AAB10

NOMESCO Finland

Partial excision of intracranial lesion

30.0

13.1

XCD10

NOMESCO Finland

Electrophysiological examination of eye

9.8

13.0

CKD15

NOMESCO Finland

Injection of vitreous substitute

52.6

13.0

GD1AA

NOMESCO Finland

Thorax X-ray examination

2.5

12.7

146

836

H54.1

ICD-10 Finland

Severe visual impairment, binocular

+∞

12.6

H54.5

ICD-10 Finland

Severe visual impairment, monocular

+∞

12.6

CKD20

NOMESCO Finland

Removal of vitreous body substitute

135.8

12.5

WX140

NOMESCO Finland

Parabulbar anesthesy

5.7

12.5

H46

ICD-10 Finland

Optic neuritis

39.4

12.3

H26.4

ICD-10 Finland

After-cataract

4.1

12.2

141

S01FA01

ATC

atropine; ophthalmic

28.1

12.2

Z3229

NOMESCO Finland

Other healthcare associate professional

4.2

12.1

132

CHF15

NOMESCO Finland

Cryotherapy of ciliary body

124.9

11.5

CS444

NOMESCO Finland

Visual field testing with Octopus automated perimetry

9.2

11.3

CJB10

NOMESCO Finland

Laser discission of secondary cataract

4.1

11.1

126

Z90.0

ICD-10 Finland

Acquired absence of part of head and neck

45.2

11.0

H20.0

ICD-10 Finland

Acute and subacute iridocyclitis

6.4

10.8

H40.13

ICD-10 Finland

Chronic glaucoma with open ventricular angle

5.5

10.5

TCA15

NOMESCO Finland

Retrobulbar therapeutic injection into orbit

114.1

10.5

H47.2

ICD-10 Finland

Optic atrophy

33.9

10.4

D32.02

ICD-10 Finland

Benign tumor of the meninges at the base of the brain

24.4

10.3

S01EX03

ATC

7.7

10.2

ZXA05

NOMESCO Finland

Left side

2.5

10.1

474

H27.0

ICD-10 Finland

Aphakia

41.6

10.0

S01EC54

ATC

brinzolamide, combinations; ophthalmic

20.9

9.9

CKC12

NOMESCO Finland

Photocoagulation of retina

5.2

9.8

TCG00

NOMESCO Finland

Protection of cornea and sclera with soft lens

57.0

9.7

B01AC04

ATC

clopidogrel; oral

2.9

9.7

246

I10

ICD-10 Finland

Essential (primary) hypertension

2.2

9.5

182

1266

G45.3

ICD-10 Finland

Amaurosis fugax

13.0

9.5

CS494

NOMESCO Finland

Other visual field testing

13.0

9.5

H54.7

ICD-10 Finland

Unspecified visual loss

103.3

9.5

AA1BG

NOMESCO Finland

Standard MRI examination of brain with high intensity magnet

4.2

9.3

H53.9

ICD-10 Finland

Visual disturbance, unspecified

14.3

9.3

D32.00

ICD-10 Finland

Benign tumor of the meninges on the outer surface of the cerebrum

12.0

9.2

S01EA03

ATC

apraclonidine; ophthalmic

16.3

9.1

C10AA01

ATC

simvastatin; oral

2.1

8.7

145

932

Z97.0

ICD-10 Finland

Presence of artificial eye

51.6

8.7

138

Kela drug reimbursment

Severe anaemia associated with chronic renal failure

10.5

8.6

A10AC01

ATC

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

3.6

8.6

120

E10.7

ICD-10 Finland

Type 1 diabetes mellitus, With multiple complications

7.8

8.6

N08.39*E10.2

ICD-10 Finland

Insulin-dependent diabetes mellitus - Diabetic nephropathy

20.8

8.5

S01ED02

ATC

betaxolol; ophthalmic

13.3

8.5

Z50.8

ICD-10 Finland

Care involving use of other rehabilitation procedures

3.9

8.4

CDC00

NOMESCO Finland

Enucleation of eye

+∞

8.4

WX408

NOMESCO Finland

General anesthesy, balanced

2.4

8.2

415

H47.0

ICD-10 Finland

Disorders of optic nerve, not elsewhere classified

17.8

8.1

WX100

NOMESCO Finland

Conjunctival surface anesthesia

3.0

8.1

174

CS424

NOMESCO Finland

Visual field testing with Goldmann perimetry

22.8

8.1

AA1CG

NOMESCO Finland

Extensive MRI examination of brain with high intensity magnet

3.8

8.1

A10AA01

ATC

6.4

8.0

H04.10

ICD-10 Finland

Dry eye syndrome

3.7

8.0

105

S01EE04

ATC

travoprost; ophthalmic

8.1

8.0

AA1DG

NOMESCO Finland

Very extensive MRI examination of brain with high intensity magnet

8.1

8.0

H20.1

ICD-10 Finland

Chronic iridocyclitis

11.3

7.9

H35.31

ICD-10 Finland

Senile macular degeneration (atrophic)(exudative)

4.4

7.7

S01BA01

ATC

dexamethasone; ophthalmic (corticosteroids, plain)

4.9

7.7

S01EE05

ATC

tafluprost; ophthalmic

5.7

7.7

Z94.0

ICD-10 Finland

Kidney transplant status

19.0

7.7

N03AX14

ATC

levetiracetam; systemic

9.2

7.6

H10.3

ICD-10 Finland

Acute conjunctivitis, unspecified

4.2

7.6

N08.39

ICD-10 Finland

Glomerular disorders in diabetes mellitus microalbuminuria

25.8

7.6

E10.2

ICD-10 Finland

Type 1 diabetes mellitus, With renal complications

25.8

7.6

123

Kela drug reimbursment

Chronic disorders of vitamin D metabolism

10.5

7.6

A10AB01

ATC

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

5.0

7.5

SPAT1148

SPAT

Treatment of chronic ulcer or burn

2.6

7.5

243

CDC40

NOMESCO Finland

Evisceration of eye with insertion of prosthesis

82.2

7.5

3793A

ICD-9 Finland

Other disorders of eye, Aphakia and other disorders of lens[APHAKIA]

82.2

7.5

H26.2

ICD-10 Finland

Complicated cataract

13.9

7.5

H40.0

ICD-10 Finland

Glaucoma suspect

3.7

7.4

H25.1

ICD-10 Finland

Senile nuclear cataract

2.2

7.4

538

A10AA02

ATC

4.7

7.3

37872

ICD-8 Finland

Other diseases of eye, Aphakia artefacta, acquisita

+∞

7.3

H53.2

ICD-10 Finland

Diplopia

+∞

7.3

GD1QA

NOMESCO Finland

Supine thorax X-ray examination

2.5

7.3

286

ZXD05

NOMESCO Finland

Urgent procedure

2.1

7.3

571

H40.10

ICD-10 Finland

Capsular glaucoma with pseudoexfoliation on the anterior lens capsule

5.6

7.2

CA1CG

NOMESCO Finland

Eye and orbita extensive MRI examination with high intensity magnet

30.9

7.2

H02AB09

ATC

hydrocortisone; systemic

12.5

7.1

H36.09*E10.3

ICD-10 Finland

Insulin-dependent diabetes mellitus - Diabetic retinopathy

12.5

7.1

H36.03

ICD-10 Finland

Proliferative diabetic retinopathy

9.1

7.1

A12AA04

ATC

calcium carbonate; oral

10.4

7.1

A11CC03

ATC

alfacalcidol; systemic

8.6

6.9

AAB00

NOMESCO Finland

Extirpation of intracranial lesion

11.3

6.9

CKD92

NOMESCO Finland

Combined vitrectomy and retinal procedure

17.2

6.8

137

Kela drug reimbursment

Uraemia requiring dialysis

17.2

6.8

3610A

ICD-9 Finland

Retinal detachments and defects, Retinal detachment with retinal defect

41.1

6.8

DAX08

NOMESCO Finland

Fitting of hearing aid

5.4

6.8

I65.2

ICD-10 Finland

Occlusion and stenosis of carotid artery

10.4

6.6

CKD10

NOMESCO Finland

Insufflation of vitreous cavity

10.4

6.6

C08CA01

ATC

amlodipine; oral

2.0

6.6

108

671

Z03.9

ICD-10 Finland

Observation for suspected disease or condition, unspecified

2.4

6.5

275

A28

ICPC

Limited function/disability NOS

2.4

6.5

289

R5110

NOMESCO Finland

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

2.8

6.5

167

ZXA00

NOMESCO Finland

Right side

2.1

6.5

510

CKC20

NOMESCO Finland

Cryopexy of undetached retina

71.4

6.5

H21.0

ICD-10 Finland

Hyphaema

71.4

6.5

37520

ICD-8 Finland

Glaucoma, Secondary

71.4

6.5

H33.4

ICD-10 Finland

Traction detachment of retina

71.4

6.5

N02BE01

ATC

paracetamol; systemic, rectal

2.3

6.4

241

2025

H3603, E103

ICD-10 Finland

8.5

6.4

PA6DE

NOMESCO Finland

Neck artery ultrasound examination with Doppler method

4.2

6.4

Z00.4

ICD-10 Finland

General psychiatric examination, not elsewhere classified

3.4

6.3

S05.6

ICD-10 Finland

Penetrating wound of eyeball without foreign body

+∞

6.3

R1220

NOMESCO Finland

Psychological examination of need and possibilities to rehabilitation

27.3

6.3

E10.3

ICD-10 Finland

Type 1 diabetes mellitus, With ophthalmic complications

6.0

6.2

JN3AE

NOMESCO Finland

Abdominal ultrasound examination

2.7

6.2

178

Z3231

NOMESCO Finland

Registered nurse

2.1

6.1

467

25000

ICD-8 Finland

Diabetes mellitus, Sine complicatione

4.8

6.1

H57.1

ICD-10 Finland

Ocular pain

5.0

6.0

Mortality – FinRegistry

↥

Association

Association between endpoint H7_BLINDMONOCULAR and mortality.

Females

Parameter	HR [95% CI]	p-value
H7_BLINDMONOCULAR	1.341 [1.11, 1.62]	0.003
Birth year	0.995 [0.99, 1.0]	0.25

During the follow-up period (1.1.1998 — 31.12.2019), 434 out of 1186 females with H7_BLINDMONOCULAR died.

Males

Parameter	HR [95% CI]	p-value
H7_BLINDMONOCULAR	1.671 [1.36, 2.06]	< 0.001
Birth year	0.987 [0.98, 1.0]	0.007

During the follow-up period (1.1.1998 — 31.12.2019), 458 out of 1223 males with H7_BLINDMONOCULAR died.

Mortality risk

Mortality risk for people of age

years, who have H7_BLINDMONOCULAR.

N-year risk	Females	Males
1	0.173%	0.358%
5	0.869%	2.093%
10	1.878%	4.866%
15	3.93%	9.27%
20	6.913%	16.066%

Relationships between endpoints

↥

Index endpoint: H7_BLINDMONOCULAR – Blindness, monocular

GWS hits: -

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_BLINDMONOCULAR
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	H544
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	H544
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, monocular

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