Autosomal dominant neovascular inflammatory vitreoretinopathy

General Information (adopted from Orphanet):

Synonyms, Signs: VITREORETINOPATHY, NEOVASCULAR INFLAMMATORY, AUTOSOMAL DOMINANT
PROLIFERATIVE VITREORETINOPATHY
PVR
VRNI
ADNIV
Number of Symptoms 12
OrphanetNr: 329211
OMIM Id: 193235
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: All ages
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Vitreoretinal degeneration
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000618) Blindness 124 / 7739
2
 (HPO:0000541) Retinal detachment 87 / 7739
3
 (HPO:0007778) Posterior retinal neovascularization 1 / 7739
4
 (HPO:0000512) Abnormal electroretinogram 61 / 7739
5
 (HPO:0007902) Vitreous hemorrhage 9 / 7739
6
 (HPO:0000554) Uveitis 10 / 7739
7
 (HPO:0007658) Large hyperpigmented retinal spots 1 / 7739
8
 (OMIM) Prominent ocular inflammation 1 / 7739
9
 (OMIM) Retinal vascular dropout 1 / 7739
10
 (OMIM) Neovascular inflammatory vitreoretinopathy 1 / 7739
11
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
12
 (OMIM) Distinct b-wave abnormality on electrooculography 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Autosomal dominant neovascular inflammatory vitreoretinopathy (ADNIV) is a blinding disorder that shares some clinical features with retinitis pigmentosa (see 268000), uveitis, and proliferative diabetic retinopathy (see 603933). Features include prominent ocular inflammation; vascular dropout, large spots of hyperpigmentation, ...
Clinical Description OMIM Bennett et al. (1990) studied a large 6-generation family of northern European ancestry segregating autosomal dominant inflammatory eye disease. There were 28 affected individuals, the condition was present in every generation, and there was at least 1 documented ...
Molecular genetics OMIM Mahajan et al. (2012) performed whole-exome sequencing in the family with autosomal dominant neovascular inflammatory vitreoretinopathy originally reported by Bennett et al. (1990) (ADNIV-1) and identified a heterozygous missense mutation in the CAPN5 gene (R243L; 602537.0001) that segregated ...