Retinoschisis and retinal cysts

H7_RETINOCHISISCYST

retinal detachment: An eye emergency condition which may lead to blindness if left untreated. It is characterized by the separation of the inner retina layers from the underlying pigment epithelium. Causes include trauma, advanced diabetes mellitus, high myopia, and choroid tumors. Symptoms include sudden appearance of floaters, sudden light flushes, and blurred vision.

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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 H33.1
  • Hospital discharge: ICD-9 3611
  • Hospital discharge: ICD-8 37603
  • Cause of death: ICD-10 H33.1
  • Cause of death: ICD-9 3611
  • Cause of death: ICD-8 37603

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

820

4. Check minimum number of events

None

820

5. Include endpoints

None

820

6. Filter based on genotype QC (FinnGen only)

820

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
H33
Name in latin
Retinoschisis et cystae retinales

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 5538 2706 2804
Only index persons 5192 2588 2604
Unadjusted period prevalence (%)
Whole population 0.08 0.08 0.08
Only index persons 0.10 0.10 0.10
Median age at first event (years)
Whole population 62.82 63.54 62.17
Only index persons 62.55 63.27 61.84

-FinnGen-

Key figures

All Female Male
Number of individuals 820 402 418
Unadjusted period prevalence (%) 0.16 0.14 0.18
Median age at first event (years) 63.57 62.25 64.84

-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
729
Matched controls
7288
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
H33.1
ICD-10 Finland
Retinoschisis and retinal cysts
+∞
323.0
695
*
CKC12
NOMESCO Finland
Photocoagulation of retina
1427.1
298.9
271
*
H33.0
ICD-10 Finland
Retinal detachment with retinal break
+∞
140.2
130
*
H33.3
ICD-10 Finland
Retinal breaks without detachment
1022.9
94.1
90
*
CKC10
NOMESCO Finland
Local photocoagulation of retina
895.0
83.2
80
*
CK2X4
NOMESCO Finland
Optical coherence tomography (OCT) of ocular fundus
7.8
52.9
130
197
CK2S4
NOMESCO Finland
Plain photography of ocular fundus
8.1
41.6
98
137
H35.39
ICD-10 Finland
Degeneration of macula and posterior pole
95.8
41.3
45
5
XCW99
NOMESCO Finland
Other investigative procedure of eye
5.4
41.3
136
299
CKD10
NOMESCO Finland
Insufflation of vitreous cavity
374.9
36.3
36
*
H35.38
ICD-10 Finland
Preretinal fibrosis of the macula
84.6
36.2
40
5
CKD40
NOMESCO Finland
Endophotocoagulation of retina
126.0
34.0
36
*
CKD05
NOMESCO Finland
Puncture of vitreous body with injection of medication
66.7
33.3
38
6
H43.8
ICD-10 Finland
Other disorders of vitreous body
4.3
31.5
127
340
Z96.1
ICD-10 Finland
Presence of intraocular lens
3.7
29.6
144
454
H35.4
ICD-10 Finland
Peripheral retinal degeneration
303.4
29.0
29
*
CKD65
NOMESCO Finland
Pars plana or pars plicata vitrectomy
28.5
28.2
38
14
WX140
NOMESCO Finland
Parabulbar anesthesy
10.7
27.7
54
54
H35.30
ICD-10 Finland
Kuhnt-Junius degeneration
25.9
26.8
37
15
H35.31
ICD-10 Finland
Senile macular degeneration (atrophic)(exudative)
97.0
25.8
28
*
H35.7
ICD-10 Finland
Separation of retinal layers
+∞
25.1
24
*
Q14.10
ICD-10 Finland
Congenital retinoschis
247.7
23.8
24
*
H43.1
ICD-10 Finland
Vitreous haemorrhage
14.6
23.3
39
28
3611A
ICD-9 Finland
Retinal detachments and defects, Retinoschisis and retinal cysts
+∞
22.0
21
*
H26.4
ICD-10 Finland
After-cataract
3.8
21.9
98
284
H34.8
ICD-10 Finland
Other retinal vascular occlusions
226.5
21.7
22
*
S01CA01
ATC
dexamethasone and antiinfectives; ophthalmic (ophth., corticosteroids and antiinfectives in comb.)
2.2
20.7
289
1675
H33.5
ICD-10 Finland
Other retinal detachments
49.5
20.3
24
5
S01XA20
ATC
artificial tears and other indifferent preparations; ophthalmic
2.1
19.9
334
2087
37603
ICD-8 Finland
Detachment of retina, Retinoschisis
+∞
19.9
19
*
CKD70
NOMESCO Finland
Excision of preretinal or epiretinal membrane
+∞
19.9
19
*
Z01.0
ICD-10 Finland
Examination of eyes and vision
2.7
19.1
146
617
CJB10
NOMESCO Finland
Laser discission of secondary cataract
3.7
18.4
85
253
XCK10
NOMESCO Finland
Photography of fundus of eye
3.4
18.2
94
306
CJE20
NOMESCO Finland
Phakoemulsification with implantation of artificial lens in posterior chamber
2.1
18.1
261
1513
CKD15
NOMESCO Finland
Injection of vitreous substitute
+∞
17.8
17
*
CKC30
NOMESCO Finland
Cryopexy of detached retina
+∞
15.7
15
*
CKD94
NOMESCO Finland
Combined vitrectomy and procedure on lens through pars plana
57.9
14.8
17
*
CKD20
NOMESCO Finland
Removal of vitreous body substitute
+∞
14.6
14
*
CKC60
NOMESCO Finland
Local buckling of sclera using implant
+∞
13.6
13
*
CKD91
NOMESCO Finland
Extended vitrectomy through pars plana
+∞
13.6
13
*
H33.2
ICD-10 Finland
Serous retinal detachment
+∞
13.6
13
*
H3600, E113
ICD-10 Finland
NA
+∞
13.6
13
*
S01ED51
ATC
timolol, combinations; ophthalmic
3.1
12.7
72
250
CKD92
NOMESCO Finland
Combined vitrectomy and retinal procedure
71.1
12.6
14
*
CK2L4
NOMESCO Finland
Wide-field/panoramic imaging of ocular fundus
38.2
12.2
15
*
H40.5
ICD-10 Finland
Glaucoma secondary to other eye disorders
27.2
12.1
16
6
3610A
ICD-9 Finland
Retinal detachments and defects, Retinal detachment with retinal defect
+∞
11.5
11
*
H36.00
ICD-10 Finland
Diabetic background retinopathy
35.6
11.3
14
*
XCH00
NOMESCO Finland
Eye pressure measurement
4.4
11.2
40
95
H53.1
ICD-10 Finland
Subjective visual disturbances
3.3
11.1
56
179
CKC70
NOMESCO Finland
Circular buckling of sclera
+∞
10.4
10
*
3745
FHL
Hard membrane girding, cerclage with coagulation
+∞
10.4
10
*
CKD93
NOMESCO Finland
Extended combined procedure on vitreous body and retina
+∞
10.4
10
*
H25.1
ICD-10 Finland
Senile nuclear cataract
1.8
10.4
201
1251
H35.0
ICD-10 Finland
Background retinopathy and retinal vascular changes
+∞
9.4
9
*
H52.1
ICD-10 Finland
Myopia
5.2
9.3
28
56
XCK00
NOMESCO Finland
Perimetry
2.7
9.1
61
237
S01ED01
ATC
timolol; ophthalmic
3.7
9.0
38
107
CKC15
NOMESCO Finland
Panretinal photocoagulation
50.6
8.7
10
*
H26.2
ICD-10 Finland
Complicated cataract
9.1
8.6
17
19
3744
FHL
Pericardial identification surgery with coagulation (includes epi- and intrascleral indications and eg Lincoff catheter)
91.1
8.4
9
*
H35.37
ICD-10 Finland
Macular holes
+∞
8.3
8
*
S01BC05
ATC
ketorolac; ophthalmic
3.4
7.6
35
106
H40.0
ICD-10 Finland
Glaucoma suspect
2.4
7.5
63
277
CM2X4
NOMESCO Finland
Follow-up OCT of age-related macular degeneration lesions
80.9
7.4
8
*
TCW99
NOMESCO Finland
Other minor procedure in eye surgery
6.9
7.3
17
25
H36.01
ICD-10 Finland
Diabetic maculopathy
+∞
7.3
7
*
H3601, E113
ICD-10 Finland
NA
+∞
7.3
7
*
H20.0
ICD-10 Finland
Acute and subacute iridocyclitis
3.5
7.2
32
95
E11.3
ICD-10 Finland
Type 2 diabetes mellitus, with ophthalmic complications
5.1
7.1
21
42
S01EE01
ATC
latanoprost; ophthalmic
2.5
6.9
52
217
S01EA05
ATC
brimonidine; ophthalmic (sympathomimetics in glaucoma therapy)
4.1
6.6
24
60
CK9F4
NOMESCO Finland
Fluorescein angiography (FAG) of choroid and retina
70.4
6.4
7
*
WX100
NOMESCO Finland
Conjunctival surface anesthesia
1.9
6.4
87
477
37600
ICD-8 Finland
Detachment of retina, Primaria
+∞
6.3
6
*
H35.5
ICD-10 Finland
Hereditary retinal dystrophy
+∞
6.3
6
*
H35.9
ICD-10 Finland
Retinal disorder, unspecified
+∞
6.3
6
*
DFF00
NOMESCO Finland
Pure tone audiometry
2.0
6.0
74
386

Mortality – FinRegistry

Association

Association between endpoint H7_RETINOCHISISCYST and mortality.

Females

Parameter HR [95% CI] p-value
H7_RETINOCHISISCYST 0.746 [0.64, 0.86] < 0.001
Birth year 0.993 [0.98, 1.0] 0.087

During the follow-up period (1.1.1998 — 31.12.2019), 279 out of 2255 females with H7_RETINOCHISISCYST died.

Males

Parameter HR [95% CI] p-value
H7_RETINOCHISISCYST 0.806 [0.7, 0.93] 0.003
Birth year 0.988 [0.98, 1.0] 0.016

During the follow-up period (1.1.1998 — 31.12.2019), 391 out of 2318 males with H7_RETINOCHISISCYST died.

Mortality risk

Mortality risk for people of age

years, who have H7_RETINOCHISISCYST.

N-year risk Females Males
1 0.069% 0.188%
5 0.386% 0.962%
10 0.962% 2.488%
15 1.992% 4.683%
20 3.487% 8.127%

Relationships between endpoints

Index endpoint: H7_RETINOCHISISCYST – Retinoschisis and retinal cysts

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
FinnGen
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