ADVIRC
MCID: VTR010
MIFTS: 35

Vitreoretinochoroidopathy (ADVIRC)

Categories: Cardiovascular diseases, Eye diseases, Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Vitreoretinochoroidopathy

MalaCards integrated aliases for Vitreoretinochoroidopathy:

Name: Vitreoretinochoroidopathy 57 75 29 55 6 73
Autosomal Dominant Vitreoretinochoroidopathy 53 25 59 37 73
Advirc 57 53 25 59 75
Microcornea, Rod-Cone Dystrophy, Cataract, and Posterior Staphyloma 57 29 13 6
Vitreoretinochoroidopathy Dominant 53 25 40
Vitreoretinochoroidopathy with Microcornea, Glaucoma, and Cataract 57 25
Vitreoretinochoroidopathy, Autosomal Dominant, with Nanophthalmos 57 25
Vitreoretinochoroidopathy, Autosomal Dominant 57 75
Vrcp 57 75
Vitreoretinochoroidopathy Autosomal Dominant with Nanophthalmos, Microcornea, Rod-Cone Dystrophy, Cataract and Posterior Staphyloma 75
Microcornea-Rod-Cone Dystrophy-Cataract-Posterior Staphyloma Syndrome 59
Vitreoretinochoroidopathy with Microcornea-Glaucoma-Cataract 75
Vitreoretinochoroidopathy, Autosomal Dominant; Advirc 57
Vrcp Autosomal Dominant 53
Mrcs Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
mrcs syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;
autosomal dominant vitreoretinochoroidopathy
Inheritance: Autosomal dominant; Age of onset: All ages; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
vitreoretinochoroidopathy:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 193220
UMLS via Orphanet 74 C2674009 C3888099
ICD10 via Orphanet 34 H35.5
MESH via Orphanet 45 C536352
KEGG 37 H02078

Summaries for Vitreoretinochoroidopathy

NIH Rare Diseases : 53 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.

MalaCards based summary : Vitreoretinochoroidopathy, also known as autosomal dominant vitreoretinochoroidopathy, is related to cataract and cone dystrophy. An important gene associated with Vitreoretinochoroidopathy is BEST1 (Bestrophin 1). Affiliated tissues include eye, retina and endothelial, and related phenotypes are nystagmus and blindness

Genetics Home Reference : 25 Autosomal dominant vitreoretinochoroidopathy (ADVIRC) is a disorder that affects several parts of the eyes, including the clear gel that fills the eye (the vitreous), the light-sensitive tissue that lines the back of the eye (the retina), and the network of blood vessels within the retina (the choroid). The eye abnormalities in ADVIRC can lead to varying degrees of vision impairment, from mild reduction to complete loss, although some people with the condition have normal vision.

UniProtKB/Swiss-Prot : 75 Vitreoretinochoroidopathy, autosomal dominant: A disorder characterized by vitreoretinochoroidal dystrophy. The clinical presentation is variable. VRCP may be associated with cataract, nanophthalmos, microcornea, shallow anterior chamber, and glaucoma.

Description from OMIM: 193220

Related Diseases for Vitreoretinochoroidopathy

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

# Related Disease Score Top Affiliating Genes
1 cataract 10.7
2 cone dystrophy 10.7
3 bestrophinopathy, autosomal recessive 9.8 LOC107984334 BEST1
4 bestrophinopathy 9.8 LOC107984334 BEST1
5 retinitis pigmentosa 50 9.7 LOC107984334 BEST1
6 retinitis pigmentosa 9.4 LOC107984334 FTH1 BEST1

Graphical network of the top 20 diseases related to Vitreoretinochoroidopathy:



Diseases related to Vitreoretinochoroidopathy

Symptoms & Phenotypes for Vitreoretinochoroidopathy

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
microcornea
fundus dystrophy
night blindness onset during teen years
cataracts, pulverulent
microphthalmia (some)
more
Laboratory Abnormalities:
reduced electroretinogram (scotopic > photopic) becoming extinguished in older patients


Clinical features from OMIM:

193220

Human phenotypes related to Vitreoretinochoroidopathy:

32 (show all 18)
# Description HPO Frequency HPO Source Accession
1 nystagmus 32 HP:0000639
2 blindness 32 HP:0000618
3 strabismus 32 HP:0000486
4 nyctalopia 32 HP:0000662
5 microphthalmia 32 occasional (7.5%) HP:0000568
6 glaucoma 32 HP:0000501
7 retinal detachment 32 HP:0000541
8 abnormality of color vision 32 HP:0000551
9 microcornea 32 HP:0000482
10 pigmentary retinopathy 32 HP:0000580
11 dyschromatopsia 32 occasional (7.5%) HP:0007641
12 posterior staphyloma 32 HP:0030856
13 vitreous hemorrhage 32 HP:0007902
14 pulverulent cataract 32 HP:0010693
15 retinal neovascularization 32 HP:0030666
16 retinal arteriolar constriction 32 HP:0008043
17 abnormality of chorioretinal pigmentation 32 HP:0007661
18 retinal arteriolar occlusion 32 HP:0007985

Drugs & Therapeutics for Vitreoretinochoroidopathy

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Stem Cell Models of Best Disease and Other Retinal Degenerative Diseases. Active, not recruiting NCT02162953

Search NIH Clinical Center for Vitreoretinochoroidopathy

Genetic Tests for Vitreoretinochoroidopathy

Genetic tests related to Vitreoretinochoroidopathy:

# Genetic test Affiliating Genes
1 Vitreoretinochoroidopathy 29 BEST1
2 Microcornea, Rod-Cone Dystrophy, Cataract, and Posterior Staphyloma 29

Anatomical Context for Vitreoretinochoroidopathy

MalaCards organs/tissues related to Vitreoretinochoroidopathy:

41
Eye, Retina, Endothelial, Testes

Publications for Vitreoretinochoroidopathy

Articles related to Vitreoretinochoroidopathy:

(show all 19)
# Title Authors Year
1
Ocular Histopathology and Immunohistochemical Analysis in the Oldest Known Individual with Autosomal Dominant Vitreoretinochoroidopathy. ( 29774302 )
2018
2
AUTOSOMAL DOMINANT VITREORETINOCHOROIDOPATHY: When Molecular Genetic Testing Helps Clinical Diagnosis. ( 29370033 )
2018
3
Long-term changes in autosomal dominant vitreoretinochoroidopathy (ADVIRC). ( 28975401 )
2018
4
A novel missense mutation in BEST1 associated with an autosomal-dominant vitreoretinochoroidopathy (ADVIRC) phenotype. ( 30222024 )
2018
5
Mislocalisation of BEST1 in iPSC-derived retinal pigment epithelial cells from a family with autosomal dominant vitreoretinochoroidopathy (ADVIRC). ( 27653836 )
2016
6
Fundus Autofluorescence and SD-OCT Document Rapid Progression in Autosomal Dominant Vitreoretinochoroidopathy (ADVIRC) Associated with a c.256Ga88&amp;gt;a88A Mutation in BEST1. ( 26771239 )
2016
7
Long-Term Macular Changes in the First Proband of Autosomal Dominant Vitreoretinochoroidopathy (ADVIRC) Due to a Newly Identified Mutation in BEST1. ( 26849243 )
2016
8
Progressive Cone Dysfunction and Geographic Atrophy of the Macula in Late Stage Autosomal Dominant Vitreoretinochoroidopathy (ADVIRC). ( 24564716 )
2014
9
BEST1-related autosomal dominant vitreoretinochoroidopathy: a degenerative disease with a range of developmental ocular anomalies. ( 21072067 )
2011
10
Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC). ( 15452077 )
2004
11
Clinical and electrophysiological findings in autosomal dominant vitreoretinochoroidopathy: report of a new pedigree. ( 11585313 )
2001
12
Autosomal dominant vitreoretinochoroidopathy with normal electrooculogram in a German family. ( 9498121 )
1998
13
Autosomal dominant vitreoretinochoroidopathy. ( 9279944 )
1997
14
Histopathologic study of autosomal dominant vitreoretinochoroidopathy in a 26-year-old woman. ( 7487628 )
1995
15
Autosomal dominant vitreoretinochoroidopathy. Report of the third family. ( 8431155 )
1993
16
Electro-oculography in autosomal dominant vitreoretinochoroidopathy. ( 1444912 )
1992
17
Histopathologic study of autosomal dominant vitreoretinochoroidopathy. Peripheral annular pigmentary dystrophy of the retina. ( 2516300 )
1989
18
Autosomal dominant vitreoretinochoroidopathy (ADVIRC). ( 6689931 )
1984
19
Autosomal dominant vitreoretinochoroidopathy. ( 7065944 )
1982

Variations for Vitreoretinochoroidopathy

UniProtKB/Swiss-Prot genetic disease variations for Vitreoretinochoroidopathy:

75
# Symbol AA change Variation ID SNP ID
1 BEST1 p.Val86Met VAR_058274 rs121918289
2 BEST1 p.Tyr236Cys VAR_058275 rs121918291
3 BEST1 p.Val239Met VAR_058276 rs121918290

ClinVar genetic disease variations for Vitreoretinochoroidopathy:

6 (show top 50) (show all 104)
# Gene Variation Type Significance SNP ID Assembly Location
1 BEST1 NM_004183.3(BEST1): c.422G> A (p.Arg141His) single nucleotide variant Conflicting interpretations of pathogenicity rs121918284 GRCh37 Chromosome 11, 61723364: 61723364
2 BEST1 NM_004183.3(BEST1): c.422G> A (p.Arg141His) single nucleotide variant Conflicting interpretations of pathogenicity rs121918284 GRCh38 Chromosome 11, 61955892: 61955892
3 BEST1 NM_004183.3(BEST1): c.256G> A (p.Val86Met) single nucleotide variant Pathogenic rs121918289 GRCh37 Chromosome 11, 61723198: 61723198
4 BEST1 NM_004183.3(BEST1): c.256G> A (p.Val86Met) single nucleotide variant Pathogenic rs121918289 GRCh38 Chromosome 11, 61955726: 61955726
5 BEST1 NM_004183.3(BEST1): c.715G> A (p.Val239Met) single nucleotide variant Pathogenic rs121918290 GRCh37 Chromosome 11, 61725618: 61725618
6 BEST1 NM_004183.3(BEST1): c.715G> A (p.Val239Met) single nucleotide variant Pathogenic rs121918290 GRCh38 Chromosome 11, 61958146: 61958146
7 BEST1 NM_004183.3(BEST1): c.707A> G (p.Tyr236Cys) single nucleotide variant Pathogenic rs121918291 GRCh37 Chromosome 11, 61724929: 61724929
8 BEST1 NM_004183.3(BEST1): c.707A> G (p.Tyr236Cys) single nucleotide variant Pathogenic rs121918291 GRCh38 Chromosome 11, 61957457: 61957457
9 BEST1 NM_004183.3(BEST1): c.704T> C (p.Val235Ala) single nucleotide variant Pathogenic rs267606679 GRCh37 Chromosome 11, 61724926: 61724926
10 BEST1 NM_004183.3(BEST1): c.704T> C (p.Val235Ala) single nucleotide variant Pathogenic rs267606679 GRCh38 Chromosome 11, 61957454: 61957454
11 BEST1; FTH1 NM_004183.3(BEST1): c.1023C> T (p.Pro341=) single nucleotide variant Benign rs1801390 GRCh37 Chromosome 11, 61727438: 61727438
12 BEST1; FTH1 NM_004183.3(BEST1): c.1023C> T (p.Pro341=) single nucleotide variant Benign rs1801390 GRCh38 Chromosome 11, 61959966: 61959966
13 BEST1 NM_004183.3(BEST1): c.109T> C (p.Leu37=) single nucleotide variant Benign rs1800007 GRCh37 Chromosome 11, 61719387: 61719387
14 BEST1 NM_004183.3(BEST1): c.109T> C (p.Leu37=) single nucleotide variant Benign rs1800007 GRCh38 Chromosome 11, 61951915: 61951915
15 BEST1; FTH1 NM_004183.3(BEST1): c.1557C> T (p.Ser519=) single nucleotide variant Benign rs1800008 GRCh37 Chromosome 11, 61730183: 61730183
16 BEST1; FTH1 NM_004183.3(BEST1): c.1557C> T (p.Ser519=) single nucleotide variant Benign rs1800008 GRCh38 Chromosome 11, 61962711: 61962711
17 BEST1; FTH1 NM_004183.3(BEST1): c.1608T> C (p.Thr536=) single nucleotide variant Benign rs1800009 GRCh37 Chromosome 11, 61730234: 61730234
18 BEST1; FTH1 NM_004183.3(BEST1): c.1608T> C (p.Thr536=) single nucleotide variant Benign rs1800009 GRCh38 Chromosome 11, 61962762: 61962762
19 BEST1; FTH1 NM_004183.3(BEST1): c.1669G> A (p.Glu557Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs147192139 GRCh37 Chromosome 11, 61730295: 61730295
20 BEST1; FTH1 NM_004183.3(BEST1): c.1669G> A (p.Glu557Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs147192139 GRCh38 Chromosome 11, 61962823: 61962823
21 BEST1; FTH1 NM_004183.3(BEST1): c.1699C> T (p.Leu567Phe) single nucleotide variant Likely benign rs148060787 GRCh37 Chromosome 11, 61730325: 61730325
22 BEST1; FTH1 NM_004183.3(BEST1): c.1699C> T (p.Leu567Phe) single nucleotide variant Likely benign rs148060787 GRCh38 Chromosome 11, 61962853: 61962853
23 BEST1 NM_004183.3(BEST1): c.201G> C (p.Leu67=) single nucleotide variant Benign rs1801393 GRCh37 Chromosome 11, 61722627: 61722627
24 BEST1 NM_004183.3(BEST1): c.201G> C (p.Leu67=) single nucleotide variant Benign rs1801393 GRCh38 Chromosome 11, 61955155: 61955155
25 BEST1 NM_004183.3(BEST1): c.219C> A (p.Ile73=) single nucleotide variant Benign rs1109748 GRCh37 Chromosome 11, 61722645: 61722645
26 BEST1 NM_004183.3(BEST1): c.219C> A (p.Ile73=) single nucleotide variant Benign rs1109748 GRCh38 Chromosome 11, 61955173: 61955173
27 BEST1 NM_004183.3(BEST1): c.602T> C (p.Ile201Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs199529046 GRCh37 Chromosome 11, 61724436: 61724436
28 BEST1 NM_004183.3(BEST1): c.602T> C (p.Ile201Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs199529046 GRCh38 Chromosome 11, 61956964: 61956964
29 BEST1 NM_004183.3(BEST1): c.619C> A (p.Leu207Ile) single nucleotide variant Benign/Likely benign rs74653691 GRCh37 Chromosome 11, 61724453: 61724453
30 BEST1 NM_004183.3(BEST1): c.619C> A (p.Leu207Ile) single nucleotide variant Benign/Likely benign rs74653691 GRCh38 Chromosome 11, 61956981: 61956981
31 BEST1 NM_004183.3(BEST1): c.637-6C> T single nucleotide variant Conflicting interpretations of pathogenicity rs62639356 GRCh37 Chromosome 11, 61724853: 61724853
32 BEST1 NM_004183.3(BEST1): c.637-6C> T single nucleotide variant Conflicting interpretations of pathogenicity rs62639356 GRCh38 Chromosome 11, 61957381: 61957381
33 BEST1 NM_004183.3(BEST1): c.696C> A (p.Ile232=) single nucleotide variant Benign rs1805140 GRCh37 Chromosome 11, 61724918: 61724918
34 BEST1 NM_004183.3(BEST1): c.696C> A (p.Ile232=) single nucleotide variant Benign rs1805140 GRCh38 Chromosome 11, 61957446: 61957446
35 BEST1 NM_004183.3(BEST1): c.618G> A (p.Leu206=) single nucleotide variant Benign/Likely benign rs62641693 GRCh37 Chromosome 11, 61724452: 61724452
36 BEST1 NM_004183.3(BEST1): c.618G> A (p.Leu206=) single nucleotide variant Benign/Likely benign rs62641693 GRCh38 Chromosome 11, 61956980: 61956980
37 BEST1; FTH1 NM_004183.3(BEST1): c.1410G> A (p.Thr470=) single nucleotide variant Benign rs149698 GRCh37 Chromosome 11, 61730036: 61730036
38 BEST1; FTH1 NM_004183.3(BEST1): c.1410G> A (p.Thr470=) single nucleotide variant Benign rs149698 GRCh38 Chromosome 11, 61962564: 61962564
39 BEST1; FTH1 NM_004183.3(BEST1): c.1474G> A (p.Val492Ile) single nucleotide variant Benign/Likely benign rs111326315 GRCh37 Chromosome 11, 61730100: 61730100
40 BEST1; FTH1 NM_004183.3(BEST1): c.1474G> A (p.Val492Ile) single nucleotide variant Benign/Likely benign rs111326315 GRCh38 Chromosome 11, 61962628: 61962628
41 BEST1 NM_004183.3(BEST1): c.495G> A (p.Pro165=) single nucleotide variant Benign/Likely benign rs182941675 GRCh37 Chromosome 11, 61724329: 61724329
42 BEST1 NM_004183.3(BEST1): c.495G> A (p.Pro165=) single nucleotide variant Benign/Likely benign rs182941675 GRCh38 Chromosome 11, 61956857: 61956857
43 BEST1; FTH1 NM_004183.3(BEST1): c.1064G> A (p.Arg355His) single nucleotide variant Likely benign rs368356148 GRCh37 Chromosome 11, 61727479: 61727479
44 BEST1 NM_004183.3(BEST1): c.-329C> T single nucleotide variant Benign rs972354 GRCh37 Chromosome 11, 61717607: 61717607
45 BEST1 NM_004183.3(BEST1): c.-329C> T single nucleotide variant Benign rs972354 GRCh38 Chromosome 11, 61950135: 61950135
46 BEST1 NM_004183.3(BEST1): c.-66G> T single nucleotide variant Uncertain significance rs886048425 GRCh37 Chromosome 11, 61717870: 61717870
47 BEST1 NM_004183.3(BEST1): c.-66G> T single nucleotide variant Uncertain significance rs886048425 GRCh38 Chromosome 11, 61950398: 61950398
48 BEST1; FTH1 NM_004183.3(BEST1): c.1064G> A (p.Arg355His) single nucleotide variant Likely benign rs368356148 GRCh38 Chromosome 11, 61960007: 61960007
49 BEST1; FTH1 NM_004183.3(BEST1): c.1070C> T (p.Ala357Val) single nucleotide variant Likely benign rs17854138 GRCh37 Chromosome 11, 61727485: 61727485
50 BEST1; FTH1 NM_004183.3(BEST1): c.1070C> T (p.Ala357Val) single nucleotide variant Likely benign rs17854138 GRCh38 Chromosome 11, 61960013: 61960013

Expression for Vitreoretinochoroidopathy

Search GEO for disease gene expression data for Vitreoretinochoroidopathy.

Pathways for Vitreoretinochoroidopathy

GO Terms for Vitreoretinochoroidopathy

Sources for Vitreoretinochoroidopathy

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