No definition available.
Endpoint definition
↥
Endpoint definition steps |
FinnGen |
|---|---|
Phenotype data |
520210 |
1. Apply sex-specific ruleNone |
520210 |
2. Check conditionsNone |
520210 |
3. Check pre-conditions, main-only, mode, registry filtersRegistry filters:
2 out of 7 registries used, show all original rules. |
540 |
4. Check minimum number of eventsNone |
540 |
5. Include endpointsNone |
540 |
6. Filter based on genotype QC (FinnGen only) |
540 |
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
- Dystrophia retinae hereditaria
Similar endpoints
↥List of similar endpoints to
Hereditary retinal dystrophy
based on the number of shared cases.
Similar with more cases:
- Other retinal disorders
- Disorders of choroid and retina
- Diseases of the eye and adnexa
- Any event in hilmo or specialist outpatient
Similar with less cases:
None
Case counts by codes
↥
Summary Statistics
↥-FinRegistry-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | |||
| Whole population | 4684 | 2315 | 2334 |
| Only index persons | 4245 | 2126 | 2119 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.07 | 0.07 | 0.07 |
| Only index persons | 0.08 | 0.08 | 0.08 |
| Median age at first event (years) | |||
| Whole population | 47.51 | 50.32 | 44.83 |
| Only index persons | 46.92 | 49.66 | 44.17 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 540 | 289 | 251 |
| Unadjusted period prevalence (%) | 0.10 | 0.10 | 0.11 |
| Median age at first event (years) | 48.16 | 47.86 | 48.50 |
-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
- 488
- Matched controls
- 4880
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
H35.5
ICD-10 Finland
Hereditary retinal dystrophy
+∞
323.0
478
*
CK2X4
NOMESCO Finland
Optical coherence tomography (OCT) of ocular fundus
27.4
125.9
179
101
XCW99
NOMESCO Finland
Other investigative procedure of eye
20.1
121.8
195
156
XCK00
NOMESCO Finland
Perimetry
26.2
119.6
172
99
XCD10
NOMESCO Finland
Electrophysiological examination of eye
54.4
103.9
123
30
CS424
NOMESCO Finland
Visual field testing with Goldmann perimetry
179.1
98.3
100
7
Z3229
NOMESCO Finland
Other healthcare associate professional
13.3
92.6
177
200
XCK10
NOMESCO Finland
Photography of fundus of eye
14.1
81.2
148
146
H54.2
ICD-10 Finland
Moderate visual impairment, binocular
451.3
79.3
77
*
R5110
NOMESCO Finland
Evaluation of the need for aids, the testing, fitting and choice of the aid, instruction in use and delivery of it
9.1
76.6
184
305
CK2S4
NOMESCO Finland
Plain photography of ocular fundus
21.5
76.1
115
69
H35.39
ICD-10 Finland
Degeneration of macula and posterior pole
705.8
64.4
62
*
H35.30
ICD-10 Finland
Kuhnt-Junius degeneration
90.2
64.0
70
9
CK2A4
NOMESCO Finland
Autofluorescence imaging of ocular fundus
227.4
59.5
60
*
Z01.0
ICD-10 Finland
Examination of eyes and vision
6.6
59.2
179
394
Z31.5
ICD-10 Finland
Genetic counselling
13.9
58.1
104
93
ZXA10
NOMESCO Finland
Bilateral
5.9
55.4
187
467
R2120
NOMESCO Finland
Counselling and guidance concerning rehabilitation services and social security
55.0
45.9
54
11
R5210
NOMESCO Finland
Assessment of the improvements needed in the living environment
253.3
45.8
46
*
H26.4
ICD-10 Finland
After-cataract
8.6
39.8
91
126
XCD20
NOMESCO Finland
Photoangiography of eye
407.8
38.6
38
*
Z96.1
ICD-10 Finland
Presence of intraocular lens
6.4
34.4
98
185
CJB10
NOMESCO Finland
Laser discission of secondary cataract
8.1
34.3
81
117
Z50.8
ICD-10 Finland
Care involving use of other rehabilitation procedures
6.6
33.5
92
165
H35.31
ICD-10 Finland
Senile macular degeneration (atrophic)(exudative)
+∞
32.7
31
*
R3120
NOMESCO Finland
Training in mobility skills
345.1
32.3
32
*
CJE20
NOMESCO Finland
Phakoemulsification with implantation of artificial lens in posterior chamber
3.5
28.7
164
614
H26.2
ICD-10 Finland
Complicated cataract
37.9
25.5
32
9
CKD05
NOMESCO Finland
Puncture of vitreous body with injection of medication
251.8
23.9
24
*
Z3231
NOMESCO Finland
Registered nurse
2.9
22.8
184
850
H35.9
ICD-10 Finland
Retinal disorder, unspecified
125.9
22.8
24
*
CS494
NOMESCO Finland
Other visual field testing
16.3
21.9
35
23
3627A
ICD-9 Finland
Other retinal disorders, Hereditary retinal dystrophies[DYSTROPHIA RETINAE PIGMENTOSA]
+∞
21.0
20
*
CS444
NOMESCO Finland
Visual field testing with Octopus automated perimetry
11.7
20.5
38
35
74483
ICD-8 Finland
Congenital anomalies of eye, Retinitis pigmentosa
+∞
18.9
18
*
H26.02
ICD-10 Finland
Presenil cataract
11.0
18.0
34
33
H54.7
ICD-10 Finland
Unspecified visual loss
43.7
17.4
21
5
H25.1
ICD-10 Finland
Senile nuclear cataract
2.9
17.3
121
498
CK2L4
NOMESCO Finland
Wide-field/panoramic imaging of ocular fundus
52.0
17.1
20
*
Z2446
NOMESCO Finland
Social worker
4.3
16.3
63
163
H90.3
ICD-10 Finland
Sensorineural hearing loss, bilateral
3.0
15.8
100
384
H53.4
ICD-10 Finland
Visual field defects
15.4
15.5
25
17
Z2221
NOMESCO Finland
Medical doctor
2.4
15.4
166
865
R5120
NOMESCO Finland
Preparation of an aid
9.4
15.2
31
35
H35.8
ICD-10 Finland
Other specified retinal disorders
+∞
14.7
14
*
H35.4
ICD-10 Finland
Peripheral retinal degeneration
+∞
14.7
14
*
H54.0
ICD-10 Finland
Blindness, binocular
154.4
14.5
15
*
WX140
NOMESCO Finland
Parabulbar anesthesy
12.5
14.2
25
21
R2130
NOMESCO Finland
Counselling and guidance which enhance independent living
3.8
14.1
62
180
R1220
NOMESCO Finland
Psychological examination of need and possibilities to rehabilitation
8.9
12.9
27
32
R4160
NOMESCO Finland
Other therapy enhancing rehabilitation
7.4
12.8
30
43
R5130
NOMESCO Finland
Repair work or maintenance done on the aid
7.4
12.8
30
43
H35.38
ICD-10 Finland
Preretinal fibrosis of the macula
33.0
12.6
16
5
S01CA01
ATC
dexamethasone and antiinfectives; ophthalmic (ophth., corticosteroids and antiinfectives in comb.)
2.2
12.3
161
902
3627X
ICD-9 Finland
Other retinal disorders, Hereditary retinal dystrophies[DYSTROPHIA RETINAE HEREDITARIA ALIA]
+∞
11.5
11
*
H54.3
ICD-10 Finland
Mild or no visual impairment, binocular
35.9
11.3
14
*
S01EC04
ATC
brinzolamide; ophthalmic
6.9
11.1
27
41
Z01.1
ICD-10 Finland
Examination of ears and hearing
2.6
11.0
84
358
S01XA20
ATC
artificial tears and other indifferent preparations; ophthalmic
2.0
10.9
189
1178
37719
ICD-8 Finland
Other diseases of retina and optic nerve, Aliae degenerationes retinae
+∞
10.5
10
*
ZXA00
NOMESCO Finland
Right side
2.2
10.2
126
679
WX100
NOMESCO Finland
Conjunctival surface anesthesia
3.2
10.0
53
179
DFF15
NOMESCO Finland
Speech audiometry
4.6
9.8
33
75
DAX00
NOMESCO Finland
Adjustment or review of hearing aid
4.9
9.8
31
66
3626
FHL
Extracapsular cataract surgery and implantation of an artificial lens
12.7
9.4
16
13
H53.6
ICD-10 Finland
Night blindness
+∞
9.4
9
*
H35.36
ICD-10 Finland
Macular cyst
+∞
9.4
9
*
H35.0
ICD-10 Finland
Background retinopathy and retinal vascular changes
+∞
9.4
9
*
Z46.1
ICD-10 Finland
Fitting and adjustment of hearing aid
3.9
9.4
38
104
S01EC01
ATC
acetazolamide; systemic
7.7
9.0
20
27
H52.1
ICD-10 Finland
Myopia
4.5
8.8
30
70
G71.3
ICD-10 Finland
Mitochondrial myopathy, not elsewhere classified
50.9
8.7
10
*
DFF00
NOMESCO Finland
Pure tone audiometry
2.9
8.5
53
199
H47.2
ICD-10 Finland
Optic atrophy
28.1
8.5
11
*
3663A
ICD-9 Finland
Cataract secondary to ocular disorders
91.6
8.4
9
*
DFF30
NOMESCO Finland
Loudness discomfort Level (LDL)
5.7
8.4
23
42
H30.9
ICD-10 Finland
Chorioretinal inflammation, unspecified
+∞
8.4
8
*
CM2X4
NOMESCO Finland
Follow-up OCT of age-related macular degeneration lesions
+∞
8.4
8
*
Q14.10
ICD-10 Finland
Congenital retinoschis
+∞
8.4
8
*
Z97.4
ICD-10 Finland
Presence of external hearing-aid
4.2
7.9
29
73
37002
ICD-8 Finland
Refractive errors, Myopia
81.3
7.4
8
*
H57.9
ICD-10 Finland
Disorder of eye and adnexa, unspecified
11.1
7.3
13
12
H33.0
ICD-10 Finland
Retinal detachment with retinal break
+∞
7.3
7
*
37711
ICD-8 Finland
Other diseases of retina and optic nerve, Degeneratio retinae
+∞
7.3
7
*
H25.8
ICD-10 Finland
Other senile cataract
2.8
7.1
45
171
Z02.4
ICD-10 Finland
Examination for driving licence
0.4
7.0
26
634
S01BC03
ATC
diclofenac; ophthalmic
6.5
7.0
17
27
R5140
NOMESCO Finland
Monitoring the use of the aid
2.4
6.9
59
265
RK320
NOMESCO Finland
NA
8.4
6.9
14
17
DFE00
NOMESCO Finland
Insertion of cochlear implant
40.6
6.8
8
*
CKC12
NOMESCO Finland
Photocoagulation of retina
40.6
6.8
8
*
H54.1
ICD-10 Finland
Severe visual impairment, binocular
40.6
6.8
8
*
H53.1
ICD-10 Finland
Subjective visual disturbances
3.2
6.6
33
109
H44.2
ICD-10 Finland
Degenerative myopia
70.7
6.4
7
*
DFF16
NOMESCO Finland
Speech-in-noise audiometry
70.7
6.4
7
*
L28
ICPC
Limited function/disability (L)
2.1
6.4
72
371
H40.5
ICD-10 Finland
Glaucoma secondary to other eye disorders
11.2
6.3
11
10
H35.7
ICD-10 Finland
Separation of retinal layers
+∞
6.3
6
*
F94
ICPC
Blindness
+∞
6.3
6
*
37710
ICD-8 Finland
Other diseases of retina and optic nerve, Degeneratio maculae luteae
+∞
6.3
6
*
CKD70
NOMESCO Finland
Excision of preretinal or epiretinal membrane
+∞
6.3
6
*
3660C
ICD-9 Finland
Cataract, Infantile, juvenile and presenile cataract[CATARACTA PRAESENILIS]
27.0
6.2
8
*
RK110
NOMESCO Finland
NA
7.8
6.2
13
17
S01BC05
ATC
ketorolac; ophthalmic
4.1
6.1
22
56
ZXA05
NOMESCO Finland
Left side
1.8
6.1
108
659
Mortality – FinRegistry
↥Association
Association between endpoint H7_HEREDRETINADYST and mortality.
Females
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| H7_HEREDRETINADYST | 1.142 [0.98, 1.33] | 0.085 |
| Birth year | 0.991 [0.98, 1.0] | 0.052 |
During the follow-up period (1.1.1998 — 31.12.2019), 357 out of 1932 females with H7_HEREDRETINADYST died.
Males
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| H7_HEREDRETINADYST | 1.248 [1.07, 1.45] | 0.005 |
| Birth year | 0.985 [0.97, 0.99] | 0.004 |
During the follow-up period (1.1.1998 — 31.12.2019), 308 out of 1922 males with H7_HEREDRETINADYST died.
Mortality risk
Mortality risk for people of age
years, who have H7_HEREDRETINADYST.| N-year risk | Females | Males |
|---|---|---|
| 1 | 0.082% | 0.255% |
| 5 | 0.593% | 1.276% |
| 10 | 1.471% | 3.37% |
| 15 | 2.919% | 6.343% |
| 20 | 5.228% | 10.549% |
Relationships between endpoints
↥Index endpoint: H7_HEREDRETINADYST – Hereditary retinal dystrophy
GWS hits: 13
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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