Retinal vasculopathy and cerebral leukodystrophy

General Information (adopted from Orphanet):

Synonyms, Signs: CEREBRORETINAL VASCULOPATHY, HEREDITARY
RETINOPATHY, VASCULAR, WITH CEREBRAL AND RENAL INVOLVEMENT AND RAYNAUD AND MIGRAINE PHENOMENA
CRV
RVCL
Number of Symptoms 56
OrphanetNr: 247691
OMIM Id: 192315
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Adult onset
[Omim]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic central nervous system and retinal vascular disease
 -Rare genetic disease
Rare central nervous system and retinal vascular disease
 -Rare neurologic disease
Retinal dystrophy
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000093) Proteinuria 169 / 7739
2
 (HPO:0000790) Hematuria 106 / 7739
3
 (HPO:0000112) Nephropathy 92 / 7739
4
 (HPO:0008046) Abnormality of the retinal vasculature 41 / 7739
5
 (HPO:0000505) Visual impairment 297 / 7739
6
 (HPO:0000518) Cataract 454 / 7739
7
 (HPO:0000529) Progressive visual loss 54 / 7739
8
 (HPO:0001147) Retinal exudate 8 / 7739
9
 (HPO:0000488) Retinopathy 75 / 7739
10
 (HPO:0007906) Increased intraocular pressure 30 / 7739
11
 (HPO:0000501) Glaucoma 180 / 7739
12
 (HPO:0000573) Retinal hemorrhage 13 / 7739
13
 (HPO:0002301) Hemiplegia 42 / 7739
14
 (HPO:0001260) Dysarthria 329 / 7739
15
 (HPO:0004374) Hemiplegia/hemiparesis 158 / 7739
16
 (HPO:0001268) Mental deterioration 88 / 7739
17
 (HPO:0002376) Developmental regression 74 / 7739
18
 (HPO:0002076) Migraine 41 / 7739
19
 (HPO:0007017) Progressive forgetfulness 4 / 7739
20
 (HPO:0001269) Hemiparesis 51 / 7739
21
 (HPO:0002167) Neurological speech impairment 308 / 7739
22
 (HPO:0001250) Seizures 1245 / 7739
23
 (HPO:0100022) Abnormality of movement 129 / 7739
24
 (HPO:0002395) Lower limb hyperreflexia 26 / 7739
25
 (HPO:0002361) Psychomotor deterioration 26 / 7739
26
 (HPO:0002186) Apraxia 22 / 7739
27
 (HPO:0002066) Gait ataxia 327 / 7739
28
 (HPO:0001251) Ataxia 413 / 7739
29
 (HPO:0000726) Dementia 131 / 7739
30
 (HPO:0000708) Behavioral abnormality 212 / 7739
31
 (HPO:0002311) Incoordination 84 / 7739
32
 (HPO:0009763) Limb pain 7 / 7739
33
 (HPO:0001437) Abnormality of the musculature of the lower limbs 4 / 7739
34
 (HPO:0002910) Elevated hepatic transaminases 158 / 7739
35
 (HPO:0001413) Micronodular cirrhosis 11 / 7739
36
 (HPO:0001009) Telangiectasia 46 / 7739
37
 (HPO:0200030) Punctate vasculitis skin lesions 4 / 7739
38
 (HPO:0100585) Telangiectasia of the skin 66 / 7739
39
 (HPO:0001063) Acrocyanosis 56 / 7739
40
 (HPO:0200029) Vasculitis in the skin 6 / 7739
41
 (HPO:0002140) Ischemic stroke 70 / 7739
42
 (HPO:0001297) Stroke 44 / 7739
43
 (HPO:0002637) Cerebral ischemia 17 / 7739
44
 (HPO:0003565) Elevated erythrocyte sedimentation rate 31 / 7739
45
 (HPO:0000969) Edema 117 / 7739
46
 (OMIM) Glomerular dysfunction (variable) 4 / 7739
47
 (OMIM) Poor concentration 5 / 7739
48
 (OMIM) Microaneurysms 4 / 7739
49
 (OMIM) Macular edema 6 / 7739
50
 (OMIM) Retinal vasculopathy 5 / 7739
51
 (OMIM) Periventricular white matter lesions 4 / 7739
52
 (OMIM) Subcortical lesions with edema 4 / 7739
53
 (OMIM) Microangiopathic telangiectasia 4 / 7739
54
 (HPO:0002518) Abnormality of the periventricular white matter 24 / 7739
55
 (HPO:0007009) Central nervous system degeneration 5 / 7739
56
 (OMIM) Pseudotumors 4 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Retinal vasculopathy with cerebral leukodystrophy is an adult-onset autosomal dominant disorder involving the microvessels of the brain and resulting in central nervous system degeneration with progressive loss of vision, stroke, motor impairment, and cognitive decline. Death occurs in ...
Clinical Description OMIM Grand et al. (1988) reported a family in which multiple individuals had a disorder characterized by central nervous system degeneration and retinal vasculopathy. Histopathologic analysis of brain tissue in affected persons demonstrated white matter 'necrosis' without vasculitis. The ...
Molecular genetics OMIM In 9 families with autosomal dominant retinal vasculopathy with cerebral leukodystrophy, including families previously described by Grand et al. (1988), Storimans et al. (1991), Jen et al. (1997), Weil et al. (1999), and Cohn et al. (2005), Richards ...