MCID: BST007
MIFTS: 37

Best Vitelliform Macular Dystrophy

Categories: Rare diseases, Genetic diseases

Aliases & Classifications for Best Vitelliform Macular Dystrophy

MalaCards integrated aliases for Best Vitelliform Macular Dystrophy:

Name: Best Vitelliform Macular Dystrophy 23 50 24
Vitelliform Macular Dystrophy Type 2 23 50 24
Best Macular Dystrophy 23 50 24
Juvenile-Onset Vitelliform Macular Dystrophy 50 69
Macular Degeneration, Polymorphic Vitelline 50
Polymorphic Vitelline Macular Degeneration 50
Early-Onset Vitelliform Macular Dystrophy 50
Vitelliform Macular Dystrophy 69
Best Disease 50
Bvmd 50
Vmd2 50

Characteristics:

GeneReviews:

23
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:



Summaries for Best Vitelliform Macular Dystrophy

NIH Rare Diseases : 50 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. last updated: 10/13/2016

MalaCards based summary : Best Vitelliform Macular Dystrophy, also known as vitelliform macular dystrophy type 2, is related to macular dystrophy, vitelliform, 2 and vitreoretinochoroidopathy dominant, and has symptoms including visual impairment, abnormality of color vision and visual field defect. An important gene associated with Best Vitelliform Macular Dystrophy is BEST1 (Bestrophin 1), and among its related pathways/superpathways are Fatty acid metabolism and Fatty acid elongation. The drugs Carboplatin and Gemcitabine have been mentioned in the context of this disorder. Affiliated tissues include eye, retina and b cells.

GeneReviews: NBK1167

Related Diseases for Best Vitelliform Macular Dystrophy

Diseases related to Best Vitelliform Macular Dystrophy via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 12)
id Related Disease Score Top Affiliating Genes
1 macular dystrophy, vitelliform, 2 12.0
2 vitreoretinochoroidopathy dominant 11.2
3 vitelliform macular dystrophy 10.9
4 choroiditis 10.4
5 retinitis 10.4
6 blessig's cysts 10.1 BEST1 ROM1
7 impetigo 10.1 BEST1 ROM1
8 bestrophinopathy 10.0
9 osteopoikilosis and dacryocystitis 10.0 BEST1 ROM1
10 hereditary breast ovarian cancer 9.8 BEST1 ROM1
11 partial fetal alcohol syndrome 9.6 BEST1 FEN1 ROM1
12 c9orf72-related amyotrophic lateral sclerosis and frontotemporal dementia 7.2 BEST1 DDB1 FADS1 FADS2 FEN1 PYGM

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 (show all 6)
id Description HPO Frequency HPO Source Accession
1 visual impairment 32 hallmark (90%) HP:0000505
2 abnormality of color vision 32 frequent (33%) HP:0000551
3 visual field defect 32 occasional (7.5%) HP:0001123
4 choroideremia 32 occasional (7.5%) HP:0001139
5 cystoid macular degeneration 32 hallmark (90%) HP:0008028
6 metamorphopsia 32 hallmark (90%) HP:0012508

Drugs & Therapeutics for Best Vitelliform Macular Dystrophy

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

(show all 25)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Carboplatin Approved Phase 2 41575-94-4 10339178 498142 38904
2
Gemcitabine Approved Phase 2 95058-81-4 60750
3
Vinorelbine Approved, Investigational Phase 2 71486-22-1 60780 44424639
4
alemtuzumab Approved, Investigational Phase 2 216503-57-0
5
Ranibizumab Approved Phase 1, Phase 2 347396-82-1 459903
6
Paclitaxel Approved, Vet_approved Phase 2,Phase 1 33069-62-4 36314
7
Fluorouracil Approved Phase 2 51-21-8 3385
8
Oxaliplatin Approved, Investigational Phase 2 61825-94-3 5310940 9887054 43805 6857599
9
rituximab Approved Phase 1, Phase 2 174722-31-7 10201696
10
leucovorin Approved, Nutraceutical Phase 2 58-05-9 143 6006
11
Docetaxel Approved May 1996, Investigational Phase 2 114977-28-5 148124 9877265
12 Anti-Infective Agents Phase 2
13 Antimetabolites Phase 2
14 Antimetabolites, Antineoplastic Phase 2
15 Antimitotic Agents Phase 2,Phase 1
16 Antineoplastic Agents, Phytogenic Phase 2,Phase 1
17 Antiviral Agents Phase 2
18 Immunosuppressive Agents Phase 2
19 Angiogenesis Inhibitors Phase 1, Phase 2
20 Angiogenesis Modulating Agents Phase 1, Phase 2
21 Albumin-Bound Paclitaxel Phase 2,Phase 1
22 Antibodies Phase 1, Phase 2
23 Antirheumatic Agents Phase 1, Phase 2
24 Immunoglobulins Phase 1, Phase 2
25
Trastuzumab Approved, Investigational Phase 1 180288-69-1 9903

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 The 'MADe IT' Clinical Trial: Molecular Analyses Directed Individualized Therapy for Advanced Non-Small Cell Lung Cancer Completed NCT00215930 Phase 2 Vinorelbine;Docetaxel;Gemcitabine;Carboplatin
2 Subcutaneous Alemtuzumab (CAMPATH®, MabCampath®) in Relapsed/Refractory B-Cell Chronic Lymphocytic Leukemia Completed NCT00328198 Phase 2
3 Treatment of Exudative and Vasogenic Chorioretinal Diseases Including Variants of AMD and Other CNV Related Maculopathy Completed NCT00470977 Phase 1, Phase 2 ranibizumab injection (0.5 mg)
4 FOLFOX-A in the Treatment of Metastatic or Advanced Unresectable Gastric, Gastro-Esophageal Junction Adenocarcinoma Recruiting NCT03283761 Phase 2 Nab-paclitaxel 150 mg/m^2;Oxaliplatin 85 mg/m^2;5-FU 1200 mg/m^2 x 2 D;Leucovorin 400 mg/m^2
5 BI-1206 and an Anti-CD20 Antibody in Patients With CD32b Positive B-cell Lymphoma or Leukaemia Recruiting NCT02933320 Phase 1, Phase 2
6 MK-2206, Paclitaxel and Trastuzumab in Treating Patients With HER2-overexpressing Solid Tumor Malignancies Completed NCT01235897 Phase 1 MK-2206;Paclitaxel;Trastuzumab
7 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
8 Stem Cell Models of Best Disease and Other Retinal Degenerative Diseases. Recruiting NCT02162953
9 Cell Collection to Study Eye Diseases Recruiting NCT01432847
10 Inherited Retinal Degenerative Disease Registry Recruiting NCT02435940

Search NIH Clinical Center for Best Vitelliform Macular Dystrophy

Genetic Tests for Best Vitelliform Macular Dystrophy

Genetic tests related to Best Vitelliform Macular Dystrophy:

id Genetic test Affiliating Genes
1 Best Vitelliform Macular Dystrophy 24 BEST1

Anatomical Context for Best Vitelliform Macular Dystrophy

MalaCards organs/tissues related to Best Vitelliform Macular Dystrophy:

39
Eye, Retina, B Cells, Lung

Publications for Best Vitelliform Macular Dystrophy

Articles related to Best Vitelliform Macular Dystrophy:

(show top 50) (show all 62)
id Title Authors Year
1
SPECTRAL DOMAIN OPTICAL COHERENCE TOMOGRAPHY FEATURES IN DIFFERENT STAGES OF BEST VITELLIFORM MACULAR DYSTROPHY. ( 28376040 )
2017
2
Bestrophin 1 gene analysis and associated clinical findings in a Chinese patient with Best vitelliform macular dystrophy. ( 28791410 )
2017
3
MICROPERIMETRY IN BEST VITELLIFORM MACULAR DYSTROPHY. ( 28301340 )
2017
4
Screening of BEST1 Gene in a Chinese Cohort With Best Vitelliform Macular Dystrophy or Autosomal Recessive Bestrophinopathy. ( 28687848 )
2017
5
Optical Coherence Tomography Examination of the Retinal Pigment Epithelium in Best Vitelliform Macular Dystrophy. ( 28187978 )
2017
6
Optical coherence tomography in Best vitelliform macular dystrophy. ( 28233888 )
2017
7
Adult-Onset Vitelliform Macular Dystrophy caused by BEST1 p.Ile38Ser Mutation is a Mild Form of Best Vitelliform Macular Dystrophy. ( 28831140 )
2017
8
Quantitative Fundus Autofluorescence in Best Vitelliform Macular Dystrophy: RPE Lipofuscin is not Increased in Non-Lesion Areas of Retina. ( 26427423 )
2016
9
A NOVEL P.ASP304GLY MUTATION IN BEST1 GENE ASSOCIATED WITH ATYPICAL BEST VITELLIFORM MACULAR DYSTROPHY PHENOTYPE AND HIGH INTRAFAMILIAL VARIABILITY. ( 26807628 )
2016
10
PHOTORECEPTOR INNER SEGMENT MORPHOLOGY IN BEST VITELLIFORM MACULAR DYSTROPHY. ( 27467379 )
2016
11
Novel BEST1 Mutations and Special Clinical Features of Best Vitelliform Macular Dystrophy. ( 27078032 )
2016
12
Choroidal neovascularization secondary to Best vitelliform macular dystrophy detected by optical coherence tomography angiography. ( 27867022 )
2016
13
Best Vitelliform Macular Dystrophy In Afghan Twins. ( 28718575 )
2016
14
Functional assessment of the fundus autofluorescence pattern in Best vitelliform macular dystrophy. ( 26490373 )
2015
15
Retinal structure in young patients aged 10A years or less with Best vitelliform macular dystrophy. ( 25940553 )
2015
16
Two novel mutations in the bestrophin-1 gene and associated clinical observations in patients with best vitelliform macular dystrophy. ( 25936525 )
2015
17
Focal Choroidal Excavation in Best Vitelliform Macular Dystrophy: Case Report. ( 26155505 )
2015
18
Long-Term Results of Photodynamic Therapy for Choroidal Neovascularization in Pediatric Patients with Best Vitelliform Macular Dystrophy. ( 25675349 )
2015
19
CHOROIDAL THICKNESS IN BEST VITELLIFORM MACULAR DYSTROPHY. ( 26447398 )
2015
20
RECURRENCE OF VITELLIFORM LESIONS ASSOCIATED WITH TEMPORARY VISION LOSS IN BEST VITELLIFORM MACULAR DYSTROPHY. ( 26418331 )
2015
21
Bilateral choroidal excavation in best vitelliform macular dystrophy. ( 24512759 )
2014
22
Near-Infrared Fundus Autofluorescence in Subclinical Best Vitelliform Macular Dystrophy. ( 25174897 )
2014
23
Multimodal analysis of the progression of Best vitelliform macular dystrophy. ( 24791142 )
2014
24
Fundus Autofluorescence Patterns in Best Vitelliform Macular Dystrophy. ( 25068640 )
2014
25
Dome-shaped macula associated with Best vitelliform macular dystrophy. ( 25384969 )
2014
26
Quantitative fundus autofluorescence and optical coherence tomography in best vitelliform macular dystrophy. ( 24526438 )
2014
27
Outer retinal structure in best vitelliform macular dystrophy. ( 23765342 )
2013
28
Improvement of visual acuity after transcorneal electrical stimulation in case of Best vitelliform macular dystrophy. ( 23604515 )
2013
29
Best vitelliform macular dystrophy in a Swedish family: genetic analysis and a seven-year follow-up of photodynamic treatment of a young boy with choroidal neovascularization. ( 23617333 )
2013
30
A novel compound heterozygous mutation in the BEST1 gene causes autosomal recessive Best vitelliform macular dystrophy. ( 22422030 )
2012
31
Three-dimensional distribution of the vitelliform lesion, photoreceptors, and retinal pigment epithelium in the macula of patients with best vitelliform macular dystrophy. ( 22084158 )
2012
32
Intravitreal bevacizumab for choroidal neovascularization secondary to Best vitelliform macular dystrophy in a 6-year-old child. ( 22139615 )
2012
33
Frequency, genotype, and clinical spectrum of best vitelliform macular dystrophy: data from a national center in Denmark. ( 22633354 )
2012
34
Phenotypic variability in a French family with a novel mutation in the BEST1 gene causing multifocal best vitelliform macular dystrophy. ( 21293734 )
2011
35
Autosomal recessive best vitelliform macular dystrophy: report of a family and management of early-onset neovascular complications. ( 21320969 )
2011
36
Anterior segment abnormalities and angle-closure glaucoma in a family with a mutation in the BEST1 gene and Best vitelliform macular dystrophy. ( 21473666 )
2011
37
Clinicopathologic findings in Best vitelliform macular dystrophy. ( 21136072 )
2011
38
The spectrum of subclinical Best vitelliform macular dystrophy in subjects with mutations in BEST1 gene. ( 21436265 )
2011
39
Preferential hyperacuity perimeter in best vitelliform macular dystrophy. ( 21242858 )
2011
40
Effect of docosahexaenoic acid supplementation on the macular function of patients with Best vitelliform macular dystrophy: randomized clinical trial. ( 20847757 )
2010
41
Multimodal fundus imaging in Best vitelliform macular dystrophy. ( 20414784 )
2010
42
Novel and homozygous BEST1 mutations in Chinese patients with Best vitelliform macular dystrophy. ( 20057343 )
2010
43
Clinical and molecular genetic analysis of Best vitelliform macular dystrophy. ( 19357557 )
2009
44
Functional and clinical data of Best vitelliform macular dystrophy patients with mutations in the BEST1 gene. ( 20057903 )
2009
45
Exudative age-related macular degeneration or Best vitelliform macular dystrophy?--A case report. ( 18655458 )
2008
46
[Clinical manifestations and gene analysis in one Chinese family with Best vitelliform macular dystrophy]. ( 18844018 )
2008
47
New VMD2 gene mutations identified in patients affected by Best vitelliform macular dystrophy. ( 17287362 )
2007
48
Variant phenotype of Best vitelliform macular dystrophy associated with compound heterozygous mutations in VMD2. ( 16754206 )
2006
49
Genotype-phenotype correlation and longitudinal course in ten families with Best vitelliform macular dystrophy. ( 16612637 )
2006
50
A novel mutation of the VMD2 gene in a Chinese family with best vitelliform macular dystrophy. ( 16865191 )
2006

Variations for Best Vitelliform Macular Dystrophy

ClinVar genetic disease variations for Best Vitelliform Macular Dystrophy:

6 (show all 16)
id Gene Variation Type Significance SNP ID Assembly Location
1 BEST1 NM_004183.3(BEST1): c.279G> C (p.Trp93Cys) single nucleotide variant Pathogenic rs28940273 GRCh37 Chromosome 11, 61723221: 61723221
2 BEST1 NM_004183.3(BEST1): c.253T> C (p.Tyr85His) single nucleotide variant Pathogenic rs28940274 GRCh37 Chromosome 11, 61723195: 61723195
3 BEST1 NM_004183.3(BEST1): c.896G> A (p.Gly299Glu) single nucleotide variant Pathogenic rs28941468 GRCh37 Chromosome 11, 61726998: 61726998
4 BEST1 NM_004183.3(BEST1): c.87C> G (p.Tyr29Ter) single nucleotide variant Pathogenic rs121918285 GRCh37 Chromosome 11, 61719365: 61719365
5 BEST1 NM_004183.3(BEST1): c.679T> A (p.Tyr227Asn) single nucleotide variant Pathogenic rs28941469 GRCh37 Chromosome 11, 61724901: 61724901
6 BEST1 NM_004183.3(BEST1): c.16A> C (p.Thr6Pro) single nucleotide variant Pathogenic rs28940275 GRCh37 Chromosome 11, 61719294: 61719294
7 BEST1 NM_004183.3(BEST1): c.884_886delTCA (p.Ile295del) deletion Pathogenic rs121918283 GRCh37 Chromosome 11, 61726986: 61726988
8 BEST1 NM_004183.3(BEST1): c.25G> A (p.Val9Met) single nucleotide variant Pathogenic rs28940276 GRCh37 Chromosome 11, 61719303: 61719303
9 BEST1 NM_004183.3(BEST1): c.355G> C (p.Glu119Gln) single nucleotide variant Pathogenic rs1805142 GRCh37 Chromosome 11, 61723297: 61723297
10 BEST1 NM_004183.3(BEST1): c.436_437delGCinsAA (p.Ala146Lys) indel Pathogenic rs1800995 GRCh37 Chromosome 11, 61723378: 61723379
11 BEST1 NM_004183.3(BEST1): c.728C> T (p.Ala243Val) single nucleotide variant Pathogenic rs28940570 GRCh37 Chromosome 11, 61725631: 61725631
12 BEST1 NM_004183.3(BEST1): c.140G> A (p.Arg47His) single nucleotide variant Pathogenic rs28940278 GRCh37 Chromosome 11, 61719418: 61719418
13 BEST1 NM_004183.3(BEST1): c.1470_1471delCA (p.His490Glnfs) deletion Pathogenic rs281865528 GRCh37 Chromosome 11, 61730096: 61730097
14 BEST1 NM_004183.3(BEST1): c.680A> G (p.Tyr227Cys) single nucleotide variant Pathogenic/Likely pathogenic rs267606677 GRCh37 Chromosome 11, 61724902: 61724902
15 BEST1 NM_004183.3(BEST1): c.652C> T (p.Arg218Cys) single nucleotide variant Pathogenic/Likely pathogenic rs281865238 GRCh37 Chromosome 11, 61724874: 61724874
16 BEST1 NM_004183.3(BEST1): c.172_173dupCA (p.Gln58Hisfs) duplication Pathogenic rs672601356 GRCh38 Chromosome 11, 61955126: 61955127

Expression for Best Vitelliform Macular Dystrophy

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

Pathways for Best Vitelliform Macular Dystrophy

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

id Super pathways Score Top Affiliating Genes
1
Show member pathways
10.92 FADS1 FADS2
2
Show member pathways
10.3 FADS1 FADS2

GO Terms for Best Vitelliform Macular Dystrophy

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

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

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

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

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

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

Sources for Best Vitelliform Macular Dystrophy

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
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47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
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59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
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70 UMLS via Orphanet
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