Peripheral retinal degeneration

H7_PERIPHRETINADEGEN

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 H35.4
  • Hospital discharge: ICD-9 3626
  • Hospital discharge: ICD-8 37711
  • Cause of death: ICD-10 H35.4
  • Cause of death: ICD-9 3626
  • Cause of death: ICD-8 37711

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

1174

4. Check minimum number of events

None

1174

5. Include endpoints

None

1174

6. Filter based on genotype QC (FinnGen only)

1174

Control definitions (FinnGen only)

Control exclude
H7_CHOROIDRETINA

Extra metadata

Level in the ICD hierarchy
4
First used in FinnGen datafreeze
DF2
Parent code in ICD-10
H35
Name in latin
Degeneratio peripherica retinae

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 8552 5217 3289
Only index persons 7974 4943 3031
Unadjusted period prevalence (%)
Whole population 0.13 0.15 0.09
Only index persons 0.16 0.18 0.12
Median age at first event (years)
Whole population 54.77 54.91 54.52
Only index persons 53.95 54.19 53.57

-FinnGen-

Key figures

All Female Male
Number of individuals 1174 733 441
Unadjusted period prevalence (%) 0.23 0.25 0.19
Median age at first event (years) 53.90 52.24 56.65

-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
1039
Matched controls
10388
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
CKC12
NOMESCO Finland
Photocoagulation of retina
676.6
323.0
360
8
H35.4
ICD-10 Finland
Peripheral retinal degeneration
4503599627370496.0
323.0
982
*
H33.3
ICD-10 Finland
Retinal breaks without detachment
1063.5
261.3
245
*
H33.0
ICD-10 Finland
Retinal detachment with retinal break
2346.5
195.1
183
*
CKC10
NOMESCO Finland
Local photocoagulation of retina
1099.4
192.1
182
*
H43.8
ICD-10 Finland
Other disorders of vitreous body
6.1
68.0
203
397
XCW99
NOMESCO Finland
Other investigative procedure of eye
5.8
64.7
200
407
WX140
NOMESCO Finland
Parabulbar anesthesy
19.1
62.0
96
55
H35.39
ICD-10 Finland
Degeneration of macula and posterior pole
223.3
61.8
63
*
H52.1
ICD-10 Finland
Myopia
10.7
53.2
106
109
CKD10
NOMESCO Finland
Insufflation of vitreous cavity
189.6
52.4
54
*
CKD05
NOMESCO Finland
Puncture of vitreous body with injection of medication
83.0
49.4
55
7
H35.30
ICD-10 Finland
Kuhnt-Junius degeneration
37.2
49.4
63
18
CK2X4
NOMESCO Finland
Optical coherence tomography (OCT) of ocular fundus
6.6
49.0
134
229
H35.38
ICD-10 Finland
Preretinal fibrosis of the macula
53.7
47.2
56
11
CKD92
NOMESCO Finland
Combined vitrectomy and retinal procedure
456.4
44.6
44
*
CKD40
NOMESCO Finland
Endophotocoagulation of retina
156.6
43.1
45
*
Z96.1
ICD-10 Finland
Presence of intraocular lens
4.2
42.8
181
500
S01CA01
ATC
dexamethasone and antiinfectives; ophthalmic (ophth., corticosteroids and antiinfectives in comb.)
2.6
41.7
428
2213
H35.31
ICD-10 Finland
Senile macular degeneration (atrophic)(exudative)
114.8
41.1
44
*
CKC60
NOMESCO Finland
Local buckling of sclera using implant
+∞
39.8
38
*
3610A
ICD-9 Finland
Retinal detachments and defects, Retinal detachment with retinal defect
+∞
38.8
37
*
CKD65
NOMESCO Finland
Pars plana or pars plicata vitrectomy
32.7
38.2
50
16
CJE20
NOMESCO Finland
Phakoemulsification with implantation of artificial lens in posterior chamber
2.6
36.2
329
1561
CKC30
NOMESCO Finland
Cryopexy of detached retina
+∞
35.6
34
*
3626A
ICD-9 Finland
Other retinal disorders, Peripheral retinal degenerations
+∞
35.6
34
*
S01XA20
ATC
artificial tears and other indifferent preparations; ophthalmic
2.2
30.4
483
2967
H43.1
ICD-10 Finland
Vitreous haemorrhage
15.3
28.5
47
32
CKC15
NOMESCO Finland
Panretinal photocoagulation
288.9
27.9
28
*
H26.4
ICD-10 Finland
After-cataract
3.8
26.9
122
353
H33.1
ICD-10 Finland
Retinoschisis and retinal cysts
277.9
26.8
27
*
CJB10
NOMESCO Finland
Laser discission of secondary cataract
4.1
26.4
110
295
37711
ICD-8 Finland
Other diseases of retina and optic nerve, Degeneratio retinae
+∞
26.1
25
*
Z01.0
ICD-10 Finland
Examination of eyes and vision
2.7
24.9
192
807
CK2L4
NOMESCO Finland
Wide-field/panoramic imaging of ocular fundus
37.2
23.1
29
8
H25.1
ICD-10 Finland
Senile nuclear cataract
2.3
23.0
255
1290
H26.2
ICD-10 Finland
Complicated cataract
20.0
22.2
33
17
CKC70
NOMESCO Finland
Circular buckling of sclera
+∞
21.9
21
*
H53.1
ICD-10 Finland
Subjective visual disturbances
4.0
20.9
87
233
XCK10
NOMESCO Finland
Photography of fundus of eye
3.2
20.3
113
380
H35.5
ICD-10 Finland
Hereditary retinal dystrophy
+∞
19.9
19
*
3745
FHL
Hard membrane girding, cerclage with coagulation
107.1
19.6
21
*
XCD10
NOMESCO Finland
Electrophysiological examination of eye
7.2
19.3
47
68
XCD20
NOMESCO Finland
Photoangiography of eye
56.1
19.0
22
*
H35.8
ICD-10 Finland
Other specified retinal disorders
+∞
18.8
18
*
H35.7
ICD-10 Finland
Separation of retinal layers
+∞
18.8
18
*
H33.5
ICD-10 Finland
Other retinal detachments
39.2
18.6
23
6
3744
FHL
Pericardial identification surgery with coagulation (includes epi- and intrascleral indications and eg Lincoff catheter)
193.3
18.6
19
*
ZXA10
NOMESCO Finland
Bilateral
2.2
18.0
205
1040
H26.02
ICD-10 Finland
Presenil cataract
5.4
16.8
51
99
CKD70
NOMESCO Finland
Excision of preretinal or epiretinal membrane
+∞
16.7
16
*
CKD91
NOMESCO Finland
Extended vitrectomy through pars plana
30.6
16.1
21
7
CKD94
NOMESCO Finland
Combined vitrectomy and procedure on lens through pars plana
30.6
16.1
21
7
S01ED51
ATC
timolol, combinations; ophthalmic
3.2
15.0
82
274
CK2S4
NOMESCO Finland
Plain photography of ocular fundus
4.1
14.9
59
152
H35.6
ICD-10 Finland
Retinal haemorrhage
+∞
14.6
14
*
CKC20
NOMESCO Finland
Cryopexy of undetached retina
152.0
14.5
15
*
XCK00
NOMESCO Finland
Perimetry
3.1
14.4
82
282
Z3229
NOMESCO Finland
Other healthcare associate professional
2.7
13.6
98
389
H34.8
ICD-10 Finland
Other retinal vascular occlusions
40.6
13.2
16
*
H35.37
ICD-10 Finland
Macular holes
+∞
12.5
12
*
CKD20
NOMESCO Finland
Removal of vitreous body substitute
121.3
11.4
12
*
CKD93
NOMESCO Finland
Extended combined procedure on vitreous body and retina
121.3
11.4
12
*
H40.0
ICD-10 Finland
Glaucoma suspect
2.5
11.2
87
362
S01BC05
ATC
ketorolac; ophthalmic
3.5
11.0
50
147
H44.2
ICD-10 Finland
Degenerative myopia
28.3
10.7
14
5
H33
ICD-10 Finland
Retinal detachments and breaks
60.6
10.6
12
*
H33.4
ICD-10 Finland
Traction detachment of retina
+∞
10.4
10
*
ZXA00
NOMESCO Finland
Right side
1.7
10.1
267
1787
TCW99
NOMESCO Finland
Other minor procedure in eye surgery
7.3
10.0
23
32
S01EA03
ATC
apraclonidine; ophthalmic
12.3
9.9
17
14
H20.0
ICD-10 Finland
Acute and subacute iridocyclitis
3.5
9.9
45
133
S01ED01
ATC
timolol; ophthalmic
3.6
9.5
41
116
S01EC01
ATC
acetazolamide; systemic
5.2
9.4
28
55
H33.2
ICD-10 Finland
Serous retinal detachment
100.9
9.4
10
*
H04.10
ICD-10 Finland
Dry eye syndrome
2.1
9.2
109
556
CA1AE
NOMESCO Finland
Eye and orbita ultrasound examination
50.4
8.7
10
*
H54.2
ICD-10 Finland
Moderate visual impairment, binocular
20.2
8.5
12
6
D31.3
ICD-10 Finland
Benign neoplasm: Choroid
6.1
8.5
22
37
H35.0
ICD-10 Finland
Background retinopathy and retinal vascular changes
90.8
8.4
9
*
CKD15
NOMESCO Finland
Injection of vitreous substitute
90.8
8.4
9
*
H40.5
ICD-10 Finland
Glaucoma secondary to other eye disorders
12.9
8.4
14
11
37600
ICD-8 Finland
Detachment of retina, Primaria
+∞
8.3
8
*
H53.4
ICD-10 Finland
Visual field defects
4.5
8.3
28
64
H35.9
ICD-10 Finland
Retinal disorder, unspecified
33.6
8.1
10
*
H40.20
ICD-10 Finland
Acute glaucoma with closed ventricular angle
33.6
8.1
10
*
WX142
NOMESCO Finland
Sub-tenon anesthesy
17.3
8.1
12
7
XCH00
NOMESCO Finland
Eye pressure measurement
3.1
7.8
41
137
CK9F4
NOMESCO Finland
Fluorescein angiography (FAG) of choroid and retina
45.3
7.7
9
*
CM2X4
NOMESCO Finland
Follow-up OCT of age-related macular degeneration lesions
80.6
7.4
8
*
H43.3
ICD-10 Finland
Other vitreous opacities
5.0
7.3
22
45
H30.2
ICD-10 Finland
Posterior cyclitis
+∞
7.3
7
*
CKC65
NOMESCO Finland
Removal of buckling implant from sclera
+∞
7.3
7
*
3747
FHL
Combined ablation and vitreous surgery with coagulation
+∞
7.3
7
*
CM2S4
NOMESCO Finland
Follow-up photography of age-related macular degeneration lesions
+∞
7.3
7
*
S01EE01
ATC
latanoprost; ophthalmic
2.4
6.8
55
238
37002
ICD-8 Finland
Refractive errors, Myopia
40.3
6.8
8
*
H40.13
ICD-10 Finland
Chronic glaucoma with open ventricular angle
2.6
6.7
45
177
S01BC03
ATC
diclofenac; ophthalmic
3.4
6.6
30
91
H40.9
ICD-10 Finland
Glaucoma, unspecified
4.4
6.6
22
51
3793A
ICD-9 Finland
Other disorders of eye, Aphakia and other disorders of lens[APHAKIA]
70.3
6.4
7
*
S01FA01
ATC
atropine; ophthalmic
9.3
6.3
12
13
H34.1
ICD-10 Finland
Central retinal artery occlusion
+∞
6.3
6
*
3619X
ICD-9 Finland
Retinal detachments and defects, Unspecified retinal detachment
+∞
6.3
6
*
S01EC03
ATC
dorzolamide; ophthalmic
4.5
6.2
20
45
H53.9
ICD-10 Finland
Visual disturbance, unspecified
3.0
6.1
32
108
WX100
NOMESCO Finland
Conjunctival surface anesthesia
1.9
6.0
89
498

Mortality – FinRegistry

Association

Association between endpoint H7_PERIPHRETINADEGEN and mortality.

Females

Parameter HR [95% CI] p-value
H7_PERIPHRETINADEGEN 0.789 [0.7, 0.88] < 0.001
Birth year 0.995 [0.99, 1.0] 0.27

During the follow-up period (1.1.1998 — 31.12.2019), 516 out of 4493 females with H7_PERIPHRETINADEGEN died.

Males

Parameter HR [95% CI] p-value
H7_PERIPHRETINADEGEN 0.794 [0.7, 0.9] < 0.001
Birth year 0.987 [0.98, 1.0] 0.008

During the follow-up period (1.1.1998 — 31.12.2019), 436 out of 2702 males with H7_PERIPHRETINADEGEN died.

Mortality risk

Mortality risk for people of age

years, who have H7_PERIPHRETINADEGEN.

N-year risk Females Males
1 0.07% 0.126%
5 0.405% 0.914%
10 1.083% 2.273%
15 2.237% 4.398%
20 4.093% 7.697%

Relationships between endpoints

Index endpoint: H7_PERIPHRETINADEGEN – Peripheral retinal degeneration

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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