BVMD
MCID: BST007
MIFTS: 34

Best Vitelliform Macular Dystrophy (BVMD)

Categories: Eye diseases, Rare diseases

Aliases & Classifications for Best Vitelliform Macular Dystrophy

MalaCards integrated aliases for Best Vitelliform Macular Dystrophy:

Name: Best Vitelliform Macular Dystrophy 24 53
Juvenile-Onset Vitelliform Macular Dystrophy 53 72
Vitelliform Macular Dystrophy Type 2 24 53
Best Macular Dystrophy 24 53
Macular Degeneration, Polymorphic Vitelline 53
Polymorphic Vitelline Macular Degeneration 53
Early-Onset Vitelliform Macular Dystrophy 53
Vitelliform Macular Dystrophy 72
Best Disease 53
Vmd2 53
Bvmd 53

Characteristics:

GeneReviews:

24
Penetrance Best vitelliform macular dystrophy shows generally complete penetrance, especially when the eog is used as evidence of clinical expression. evidence for non-penetrance has been reported.

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Eye diseases


External Ids:

UMLS 72 C0339510 C2745945

Summaries for Best Vitelliform Macular Dystrophy

NIH Rare Diseases : 53 Best vitelliform macular dystrophy (BVMD) is a slowly progressive form of macular degeneration. It usually begins in childhood or adolescence, but age of onset and severity of vision loss can vary. Affected people first have normal vision, followed by decreased central visual acuity and distorted vision (metamorphopsia). Peripheral vision is not affected. BVMD is characterized by atrophy of the retinal pigment epithelium (The retina is the back part of the eye that contains the specialized cells that respond to light, known as photoreceptors) and impaired central visual function. BVMD is usually inherited in an autosomal dominant manner, but autosomal recessive inheritance has been reported. The condition is typically caused by mutations in the BEST1 gene; in a few cases the cause is unknown. Treatment is symptomatic and involves the use of low vision aids, and direct laser treatment or photodynamic therapy. Newer treatment includes anti-VEGF agents (bevacizumab) and transcorneal electrical retinal stimulation.

MalaCards based summary : Best Vitelliform Macular Dystrophy, also known as juvenile-onset vitelliform macular dystrophy, is related to vitelliform macular dystrophy and retinal disease. An important gene associated with Best Vitelliform Macular Dystrophy is BEST1 (Bestrophin 1). The drugs Ranibizumab and Tacrolimus have been mentioned in the context of this disorder. Affiliated tissues include eye, retina and kidney, and related phenotypes are metamorphopsia and cystoid macular degeneration

GeneReviews: NBK1167

Related Diseases for Best Vitelliform Macular Dystrophy

Graphical network of the top 20 diseases related to Best Vitelliform Macular Dystrophy:



Diseases related to Best Vitelliform Macular Dystrophy

Symptoms & Phenotypes for Best Vitelliform Macular Dystrophy

Human phenotypes related to Best Vitelliform Macular Dystrophy:

32
# Description HPO Frequency HPO Source Accession
1 metamorphopsia 32 hallmark (90%) HP:0012508
2 cystoid macular degeneration 32 hallmark (90%) HP:0008028
3 color vision defect 32 frequent (33%) HP:0000551
4 visual field defect 32 occasional (7.5%) HP:0001123
5 choroideremia 32 occasional (7.5%) HP:0001139

Drugs & Therapeutics for Best Vitelliform Macular Dystrophy

Drugs for Best Vitelliform Macular Dystrophy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 23)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ranibizumab Approved Phase 1, Phase 2 347396-82-1 459903
2
Tacrolimus Approved, Investigational Phase 2 104987-11-3 445643 439492 6473866
3
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
4
Methotrexate Approved Phase 2 1959-05-2, 59-05-2 126941
5
Ixazomib Approved, Investigational Phase 2 1072833-77-2
6
Melphalan Approved Phase 2 148-82-3 460612 4053
7
Vidarabine Approved, Investigational Phase 2 24356-66-9 21704 32326
8
Bortezomib Approved, Investigational Phase 2 179324-69-7 93860 387447
9
Glycine Approved, Nutraceutical, Vet_approved Phase 2 56-40-6 750
10 Angiogenesis Inhibitors Phase 1, Phase 2
11 Angiogenesis Modulating Agents Phase 1, Phase 2
12 Imatinib Mesylate Phase 2 220127-57-1 123596
13 Neurotransmitter Agents Phase 2
14 Alkylating Agents Phase 2
15 HIV Protease Inhibitors Phase 2
16
protease inhibitors Phase 2
17 Anti-Infective Agents Phase 2
18 Immunosuppressive Agents Phase 2
19 Antimetabolites Phase 2
20 Immunologic Factors Phase 2
21 Antiviral Agents Phase 2
22 Antimetabolites, Antineoplastic Phase 2
23 Antineoplastic Agents, Alkylating Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Treatment of Exudative and Vasogenic Chorioretinal Diseases Including Variants of AMD and Other CNV Related Maculopathy With Intravitreal Injection of Lucentis (Ranibizumab Injection) Completed NCT00470977 Phase 1, Phase 2 ranibizumab injection (0.5 mg)
2 A Phase 2 Study for Older Adults With Acute Lymphoblastic Leukaemia Active, not recruiting NCT01616238 Phase 2 Chemotherapy
3 Multicenter Phase II, Double-blind Placebo Controlled Trial of Maintenance Ixazomib After Allogeneic Hematopoietic Stem Cell Transplantation for High Risk Multiple Myeloma (BMT CTN #1302) Active, not recruiting NCT02440464 Phase 2 Fludarabine;Melphalan;Bortezomib;Ixazomib;Placebo
4 Phase I Trial of Ocular Subretinal Injection of a Recombinant Adeno-Associated Virus (rAAV2-VMD2-hMERTK) Gene Vector to Patients With Retinal Disease Due to MERTK Mutations Recruiting NCT01482195 Phase 1
5 Foundation Fighting Blindness Registry, My Retina Tracker Recruiting NCT02435940
6 Generation of Induced Pluripotent Stem (iPS) Cell Lines From Somatic Cells of Participants With Eye Diseases and From Somatic Cells of Matched Controls Recruiting NCT01432847
7 Development of Induced Pluripotent Stem Cells From Patients With Best Disease and Other Inherited Retinal Degenerative Diseases. Active, not recruiting NCT02162953

Search NIH Clinical Center for Best Vitelliform Macular Dystrophy

Genetic Tests for Best Vitelliform Macular Dystrophy

Anatomical Context for Best Vitelliform Macular Dystrophy

MalaCards organs/tissues related to Best Vitelliform Macular Dystrophy:

41
Eye, Retina, Kidney

Publications for Best Vitelliform Macular Dystrophy

Articles related to Best Vitelliform Macular Dystrophy:

(show top 50) (show all 177)
# Title Authors PMID Year
1
A novel compound heterozygous mutation in the BEST1 gene causes autosomal recessive Best vitelliform macular dystrophy. 38 4
22422030 2012
2
Autosomal recessive best vitelliform macular dystrophy: report of a family and management of early-onset neovascular complications. 38 4
21320969 2011
3
Functional and clinical data of Best vitelliform macular dystrophy patients with mutations in the BEST1 gene. 38 4
20057903 2009
4
Fundus autofluorescence imaging of retinal dystrophies. 38 4
18289629 2008
5
Molecular physiology of bestrophins: multifunctional membrane proteins linked to best disease and other retinopathies. 38 4
18391176 2008
6
Chloride channel activity of bestrophin mutants associated with mild or late-onset macular degeneration. 38 4
17898294 2007
7
New VMD2 gene mutations identified in patients affected by Best vitelliform macular dystrophy. 38 4
17287362 2007
8
The bestrophin mutation A243V, linked to adult-onset vitelliform macular dystrophy, impairs its chloride channel function. 38 4
17065513 2006
9
A novel mutation of the VMD2 gene in a Chinese family with best vitelliform macular dystrophy. 38 4
16865191 2006
10
Variant phenotype of Best vitelliform macular dystrophy associated with compound heterozygous mutations in VMD2. 38 4
16754206 2006
11
Photodynamic therapy with verteporfin for subfoveal choroidal neovascularization in best disease. 38 4
14644242 2003
12
Bestrophin, the product of the Best vitelliform macular dystrophy gene (VMD2), localizes to the basolateral plasma membrane of the retinal pigment epithelium. 38 4
11050159 2000
13
Bestrophin gene mutations in patients with Best vitelliform macular dystrophy. 38 4
10331951 1999
14
Visual acuity in patients with best vitelliform macular dystrophy. 38 4
8233392 1993
15
Autosomal recessive bestrophinopathy: differential diagnosis and treatment options. 4
23290749 2013
16
Phenotype and genotype of patients with autosomal recessive bestrophinopathy. 4
21809908 2012
17
A homozygous frameshift mutation in BEST1 causes the classical form of Best disease in an autosomal recessive mode. 4
21467170 2011
18
ADVIRC is caused by distinct mutations in BEST1 that alter pre-mRNA splicing. 4
18611979 2009
19
A normal electro-oculography in a family affected by best disease with a novel spontaneous mutation of the BEST1 gene. 4
18703557 2008
20
High-definition optical coherence tomography features in vitelliform macular dystrophy. 4
18619572 2008
21
Mutation analysis of the VMD2 gene in thai families with best macular dystrophy. 4
18766995 2008
22
Age-related macular degeneration: a perspective on genetic studies. 4
17491602 2008
23
The best disease-linked Cl- channel hBest1 regulates Ca V 1 (L-type) Ca2+ channels via src-homology-binding domains. 4
18509027 2008
24
Biallelic mutation of BEST1 causes a distinct retinopathy in humans. 4
18179881 2008
25
Choroidal neovascularisation secondary to Best's disease in a 13-year-old boy treated by intravitreal bevacizumab. 4
17605026 2007
26
Clinical and genetic heterogeneity in multifocal vitelliform dystrophy. 4
17698758 2007
27
Localization of multifocal electroretinogram abnormalities to the lesion site: findings in a family with Best disease. 4
17102007 2006
28
Peripherin/RDS and VMD2 mutations in macular dystrophies with adult-onset vitelliform lesion. 4
16885924 2006
29
Novel de novo mutation in a patient with Best macular dystrophy. 4
16769844 2006
30
The anion-selective pore of the bestrophins, a family of chloride channels associated with retinal degeneration. 4
16707793 2006
31
Late development of vitelliform lesions and flecks in a patient with best disease: clinicopathologic correlation. 4
16286623 2005
32
Risk factors for the incidence of Advanced Age-Related Macular Degeneration in the Age-Related Eye Disease Study (AREDS) AREDS report no. 19. 4
15808240 2005
33
Morphology and functional characteristics in adult vitelliform macular dystrophy. 4
15579992 2004
34
Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC). 4
15452077 2004
35
Ten novel mutations in VMD2 associated with Best macular dystrophy (BMD). 4
14517959 2003
36
Detection of retinal dysfunction in vitelliform macular dystrophy using the multifocal ERG (MF-ERG). 4
12678279 2003
37
Topographic mapping of retinal function with the SLO-mfERG under simultaneous control of fixation in Best's disease. 4
12592056 2003
38
In vivo micropathology of Best macular dystrophy with optical coherence tomography. 4
12565808 2003
39
Optical coherence tomography of adult-onset vitelliform dystrophy. 4
14619630 2003
40
Bestrophin interacts physically and functionally with protein phosphatase 2A. 4
12058047 2002
41
Mapping of retinal function in Best macular dystrophy using multifocal electroretinography. 4
11934455 2002
42
The vitelliform macular dystrophy protein defines a new family of chloride channels. 4
11904445 2002
43
Assessment of mutations in the Best macular dystrophy (VMD2) gene in patients with adult-onset foveomacular vitelliform dystrophy, age-related maculopathy, and bull's-eye maculopathy. 4
11713080 2001
44
Best's vitelliform macular dystrophy caused by a new mutation (Val89Ala) in the VMD2 gene. 4
11449320 2001
45
Hereditary retinal dystrophies and choroidal neovascularization. 4
11045344 2000
46
Allelic variation in the VMD2 gene in best disease and age-related macular degeneration. 4
10798642 2000
47
Mutations in the VMD2 gene are associated with juvenile-onset vitelliform macular dystrophy (Best disease) and adult vitelliform macular dystrophy but not age-related macular degeneration. 4
10854112 2000
48
A novel spontaneous missense mutation in VMD2 gene is a cause of a best macular dystrophy sporadic case. 4
10682987 2000
49
VMD2 mutations in vitelliform macular dystrophy (Best disease) and other maculopathies. 4
10737974 2000
50
Evaluation of the Best disease gene in patients with age-related macular degeneration and other maculopathies. 4
10453731 1999

Variations for Best Vitelliform Macular Dystrophy

Expression for Best Vitelliform Macular Dystrophy

Search GEO for disease gene expression data for Best Vitelliform Macular Dystrophy.

Pathways for Best Vitelliform Macular Dystrophy

GO Terms for Best Vitelliform Macular Dystrophy

Cellular components related to Best Vitelliform Macular Dystrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nuclear chromosome, telomeric region GO:0000784 8.62 FEN1 DDB1

Biological processes related to Best Vitelliform Macular Dystrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 fatty acid biosynthetic process GO:0006633 9.26 FADS2 FADS1
2 linoleic acid metabolic process GO:0043651 9.16 FADS2 FADS1
3 unsaturated fatty acid biosynthetic process GO:0006636 8.96 FADS2 FADS1
4 alpha-linolenic acid metabolic process GO:0036109 8.62 FADS2 FADS1

Molecular functions related to Best Vitelliform Macular Dystrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 damaged DNA binding GO:0003684 8.62 FEN1 DDB1

Sources for Best Vitelliform Macular Dystrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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