Autosomal dominant vitreoretinochoroidopathy

General Information (adopted from Orphanet):

Synonyms, Signs: MRCS, INCLUDED
VITREORETINOCHOROIDOPATHY WITH MICROCORNEA, GLAUCOMA, AND CATARACT
ADVIRC
VITREORETINOCHOROIDOPATHY, AUTOSOMAL DOMINANT
VITREORETINOCHOROIDOPATHY, AUTOSOMAL DOMINANT, WITH NANOPHTHALMOS MICROCORNEA, ROD-CONE DYSTROPHY, CATARACT, AND POSTERIOR STAPHYLOMA, INCLUDED
VRCP
Number of Symptoms 23
OrphanetNr: 3086
OMIM Id: 193220
ICD-10: H35.5
UMLs:
MeSH: C536352
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:0011478) True anophthalmia 17 / 7739
2
(HPO:0000568) Microphthalmia 183 / 7739
3
(HPO:0000528) Anophthalmia 42 / 7739
4
(HPO:0000482) Microcornea 102 / 7739
5
(HPO:0000510) Rod-cone dystrophy Very frequent [Orphanet] 266 / 7739
6
(HPO:0007641) Dyschromatopsia 19 / 7739
7
(HPO:0000512) Abnormal electroretinogram Occasional [Orphanet] 61 / 7739
8
(HPO:0010693) Pulverulent cataract 6 / 7739
9
(HPO:0000517) Abnormality of the lens Occasional [Orphanet] 12 / 7739
10
(OMIM) Peripheral retinal pigment epithelium atrophy 2 / 7739
11
(OMIM) Retinal pigmentation anterior to boundary of the staphyloma in younger patients 2 / 7739
12
(OMIM) Night blindness onset during teen years 2 / 7739
13
(OMIM) Punctate white opacities in the retina 2 / 7739
14
(OMIM) Pigmentary retinopathy throughout the posterior pole and into the staphyloma in older individuals 2 / 7739
15
(OMIM) Posterior staphyloma in most eyes 2 / 7739
16
(OMIM) Reduced electroretinogram (scotopic > photopic) becoming extinguished in older patients 2 / 7739
17
(OMIM) Breakdown of the blood retinal barrier with retinal neovascularization 2 / 7739
18
(OMIM) Fundus dystrophy 3 / 7739
19
(OMIM) Reduced axial length (nanophthalmos) if no staphyloma 2 / 7739
20
(OMIM) Vitreoretinochoroidopathy 2 / 7739
21
(OMIM) Vitreous fibrillar condensation 2 / 7739
22
(HPO:0012795) Abnormality of the optic disc Frequent [Orphanet] 187 / 7739
23
(OMIM) Glaucoma, chronic angle-closure, in older patients 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Under the designation autosomal dominant vitreoretinochoroidopathy (ADVIRC), Kaufman et al. (1982) described a seemingly 'new' fundus dystrophy characterized by chorioretinal hypopigmentation and hyperpigmentation, usually lying between the vortex veins and the ora serrata for 360 degrees. In this ...
Molecular genetics OMIM Yardley et al. (2004) noted that both the Belgian family reported by Lafaut et al. (2001) and the English family reported by Reddy et al. (2003) had pathologically low electrooculograms, a clinical finding also seen in vitelliform macular ...