MCID: VTR009
MIFTS: 10

Vitreoretinochoroidopathy Dominant

Categories: Rare diseases, Genetic diseases, Eye diseases

Aliases & Classifications for Vitreoretinochoroidopathy Dominant

MalaCards integrated aliases for Vitreoretinochoroidopathy Dominant:

Name: Vitreoretinochoroidopathy Dominant 50 25
Autosomal Dominant Vitreoretinochoroidopathy 50 25 69
Advirc 50 25
Vitreoretinochoroidopathy with Microcornea, Glaucoma, and Cataract 25
Vitreoretinochoroidopathy, Autosomal Dominant, with Nanophthalmos 25
Vitreoretinochoroidopathy 69
Vrcp Autosomal Dominant 50

Classifications:



Summaries for Vitreoretinochoroidopathy Dominant

NIH Rare Diseases : 50 the following summary is from orphanet, a european reference portal for information on rare diseases and orphan drugs.orpha number: 3086disease definitionautosomal dominant vitreoretinochoroidopathy (advirc) is a genetic vitreous-retinal disease characterized by ocular developmental anomalies such as microcornea, a shallow anterior chamber, glaucoma and cataract. abnormal chorioretinal pigmentation is present, usually lying between the vortex veins and the ora serrata for 360 degrees.epidemiologyat least 3 pedigrees have been reported to have advirc.clinical descriptionage of onset is variable, but can occur in childhood. advirc is associated with developmental ocular anomalies including microphthalmos/nanophthalmos, microcornea, hypermetropia/high myopia, shallow anterior chamber, angle closure glaucoma, iris dysgenesis, abnormal pupillary ruff, microspherophakia with mild lens opacities (congenital or early-onset posterior/subcapsular cataract), disc gliosis and optic nerve dysplasia. some patients may experience vision loss. color vision is generally normal. discrete rotatory nystagmus may be present. retinal edema due to vascular incompetence may also be observed. advirc is characterized by a peripheral retinal circumferential hyperpigmented band, punctuate white retinal opacities, fibrillar condensation of the vitreous, vascular abnormalities and neovascularisation. there are no identifiable systemic or skeletal abnormalities.etiologyadvirc is caused by mutations in best1 (11q12) (val86met, val235ala and tyr236cys), which encodes bestrophin-1 (expressed specifically in the retinal pigment epithelium (rpe)) forming a calcium activated chloride channel involved in regulation of voltage-dependent calcium channels. these mutations may alter normal splicing of best1 and result in in-frame alteration of bestrophin-1. however, functional consequences of such in-frame protein alterations remain undefined.diagnostic methodsdiagnosis of advirc is based on low normal to non-recordable amplitudes of cones and rods on full-field electroretinogram (generalized rod and cone dysfunction), an abnormal electro-oculogram (eog) (the light rise of eog is decreased giving a reduced arden ratio), and normal macular thickness on optical coherence tomography. funduscopy typically reveals a concentric band of hyperpigmentation in the extreme periphery of one quadrant, with well-defined posterior demarcation, midperipheral chorioretinal atrophy and optic nerve dysplasia. fundus autofluorescence imaging may show a normal autofluorescence pattern. goldmann perimetry is often initially normal; however visual field tends to constrict mildly with age. diagnosis is confirmed by genetic screening of best1.differential diagnosismrcs syndrome (see this term) is generally more severe than advirc. however, both of these best1-related conditions show retinal pigmentary abnormalities, retinal dystrophy, microcornea, and early-onset cataract, conditions that overlap and likely form a continuum. differential diagnosis also includes best vitelliform macular dystrophy (bvmd), adult-onset foveomacular vitelliform dystrophy and autosomal recessive bestrophinopathy (see these terms).genetic counselingtransmission is autosomal dominant and genetic counseling is possible.management and treatmentmanagement is mainly symptomatic. when choroidal neovascularization occurs, treatment may require laser photocoagulation or intravitreal delivery of anti-vascular endothelial growth factor agents such as bevacizumab and ranibizumab. cystoid macular edema can be treated with conventional carbonic anhydrase inhibitors (cais) either systemically or topically. if presentation is complicated by glaucoma, conventional treatment may require topical agents to lower intraocular pressure, such as cais. laser iridotomy may be advocated if angle closure glaucoma is a risk. some cases may require additional surgical intervention.prognosismost patients retain a fairly good visual acuity throughout life, although visual acuity may decrease considerably due to macular edema, chorioretinal atrophy, or rarely, retinal detachment and vitreous hemorrhage.visit the orphanet disease page for more resources. last updated: 1/14/2014

MalaCards based summary : Vitreoretinochoroidopathy Dominant, also known as autosomal dominant vitreoretinochoroidopathy, is related to vitreoretinochoroidopathy and retinitis. Affiliated tissues include endothelial.

Related Diseases for Vitreoretinochoroidopathy Dominant

Diseases in the Vitreoretinochoroidopathy family:

Vitreoretinochoroidopathy Dominant

Diseases related to Vitreoretinochoroidopathy Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 vitreoretinochoroidopathy 11.8
2 retinitis 9.8

Symptoms & Phenotypes for Vitreoretinochoroidopathy Dominant

Drugs & Therapeutics for Vitreoretinochoroidopathy Dominant

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Stem Cell Models of Best Disease and Other Retinal Degenerative Diseases. Recruiting NCT02162953

Search NIH Clinical Center for Vitreoretinochoroidopathy Dominant

Genetic Tests for Vitreoretinochoroidopathy Dominant

Anatomical Context for Vitreoretinochoroidopathy Dominant

MalaCards organs/tissues related to Vitreoretinochoroidopathy Dominant:

39
Endothelial

Publications for Vitreoretinochoroidopathy Dominant

Variations for Vitreoretinochoroidopathy Dominant

Expression for Vitreoretinochoroidopathy Dominant

Search GEO for disease gene expression data for Vitreoretinochoroidopathy Dominant.

Pathways for Vitreoretinochoroidopathy Dominant

GO Terms for Vitreoretinochoroidopathy Dominant

Sources for Vitreoretinochoroidopathy Dominant

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....