BMD
MCID: VTL001
MIFTS: 66

Vitelliform Macular Dystrophy (BMD) malady

Eye diseases, Ear diseases categories

Summaries for Vitelliform Macular Dystrophy

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21Genetics Home Reference, 63Wikipedia, 46OMIM, 32MalaCards
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Genetics Home Reference:21 Vitelliform macular dystrophy is a genetic eye disorder that can cause progressive vision loss. This disorder affects the retina, the specialized light-sensitive tissue that lines the back of the eye. Specifically, vitelliform macular dystrophy disrupts cells in a small area near the center of the retina called the macula. The macula is responsible for sharp central vision, which is needed for detailed tasks such as reading, driving, and recognizing faces.

MalaCards: Vitelliform Macular Dystrophy, also known as best macular dystrophy, is related to retinal degeneration and best vitelliform macular dystrophy. An important gene associated with Vitelliform Macular Dystrophy is BEST1 (bestrophin 1), and among its related pathways are eicosapentaenoate biosynthesis II (metazoa) and alpha-linolenic (omega3) and linoleic (omega6) acid metabolism. The drugs interferon alfa-2a and interferon alfa-2b and the compounds alpha-linolenic acid and gamma-linolenic acid have been mentioned in the context of this disorder. Affiliated tissues include eye, retina and smooth muscle, and related mouse phenotypes are pigmentation and vision/eye.

Wikipedia:63 Vitelliform macular dystrophy or vitelliform dystrophy is a genetic eye disorder that can cause... more...

Description from OMIM:46 153700,608161

Aliases & Classifications for Vitelliform Macular Dystrophy

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Sources:
8Disease Ontology, 9diseasecard, 21Genetics Home Reference, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 60UMLS, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Eye diseases, Ear diseases


Characteristics (Orphanet epidemiological data):

48
best macular dystrophy:
Inheritance: Autosomal dominant; Age of onset: Variable; Age of death: Normal
adult-onset foveomacular dystrophy with choroidal neovascularization:
Inheritance: Autosomal dominant,Sporadic; Age of onset: Adulthood; Age of death: Normal


Aliases & Descriptions:

vitelliform macular dystrophy 8 21 10 60
best macular dystrophy 8 9 46 48
juvenile-onset vitelliform macular dystrophy 8 48 60
macular dystrophy, vitelliform 46 44
best disease 8 48
adult-onset foveomacular dystrophy with choroidal neovascularization 48
adult-onset foveomacular vitelliform dystrophy 48
polymorphic vitelline macular degeneration 48
early-onset vitelliform macular dystrophy 48
adult-onset vitelliform macular dystrophy 48
pseudo-vitelliform macular dystrophy 48
vitelliform macular dystrophy type 2 48
best vitelliform macular dystrophy 48
adult-onset foveomacular dystrophy 48
age related macular degeneration 60
vitelliform dystrophy 21
pseudo-best disease 48
gass disease 48
aofmd 48
bvmd 48
avmd 48
bmd 48


External Ids:

Disease Ontology8 DOID:0050661
ICD10 via Orphanet26 H35.5
SNOMED-CT via Orphanet57 232049001

Related Diseases for Vitelliform Macular Dystrophy

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17GeneCards, 18GeneDecks
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Diseases in the Vitelliform Macular Dystrophy family:

Adult-Onset Vitelliform Macular Dystrophy Prph2-Related Adult-Onset Vitelliform Macular Dystrophy

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

(show top 50)    (show all 127)
idRelated DiseaseScoreTop Affiliating Genes
1retinal degeneration31.7BEST1, ROM1, ABCA4, PRPH2
2best vitelliform macular dystrophy31.7BEST1
3adult-onset vitelliform macular dystrophy31.2PRPH2, BEST1
4scotoma31.0ABCA4
5fundus dystrophy30.7BEST1, ABCA4, ROM1
6peripheral retinal degeneration30.3ROM1
7retinal disease29.8BEST1, ROM1, PRPH2, ABCA4
8stargardt disease10.8
9choroiditis10.7
10cataract10.7
11diabetic retinopathy10.7
12age-related macular degeneration 110.6
13retinitis10.6
14diabetic macular edema10.6
15atherosclerosis10.6
16refractive error10.5
17age-related macular degeneration 210.5
18age-related macular degeneration 810.5
19age related macular degeneration10.5
20macular dystrophy, atypical vitelliform10.5
21retinal drusen10.4
22retinitis pigmentosa10.4
23kuhnt-junius degeneration10.4
24pneumonia10.4
25age-related macular degeneration 310.4
26age-related macular degeneration 410.4
27age-related macular degeneration 510.4
28age-related macular degeneration 610.4
29age-related macular degeneration 710.4
30age-related macular degeneration 910.4
31becker muscular dystrophy10.4
32osteoporosis10.4
33macular holes10.4
34prph2-related adult-onset vitelliform macular dystrophy10.4
35cutis laxa10.4
36alzheimer's disease10.4
37vitreous detachment10.4
38complement deficiency10.4
39hepatitis10.4
40myopia10.4
41bone fracture10.3
42muscular dystrophy10.3
43osteoporotic fracture10.3
44cystoid macular edema10.3
45kearns-sayre syndrome10.3
46adult syndrome10.3
47glaucoma10.3
48retinal detachment10.3
49vitiligo-associated multiple autoimmune disease susceptiblity 610.3
50coronary artery disease10.2

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



Diseases related to vitelliform macular dystrophy

Clinical Features for Vitelliform Macular Dystrophy

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46OMIM
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Clinical features from OMIM:

153700,608161

Clinical synopsis from OMIM:

153700

Drugs & Therapeutics for Vitelliform Macular Dystrophy

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Vitelliform Macular Dystrophy

Drug clinical trials:

Search ClinicalTrials for Vitelliform Macular Dystrophy

Search NIH Clinical Center for Vitelliform Macular Dystrophy

Search CenterWatch for Vitelliform Macular Dystrophy

Inferred drug relations via UMLS60/NDF-RT40:

Genetic Tests for Vitelliform Macular Dystrophy

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Anatomical Context for Vitelliform Macular Dystrophy

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32MalaCards
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MalaCards organs/tissues related to Vitelliform Macular Dystrophy:

32
Eye, Retina, Smooth muscle

Animal Models for Vitelliform Macular Dystrophy or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Vitelliform Macular Dystrophy:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.5BEST1, ABCA4, MITF, PRPH2
2MP:00053918.0BEST1, DDB1, PRPH2, MITF, ABCA4, ROM1

Publications for Vitelliform Macular Dystrophy

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Sources:
50PubMed
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Articles related to Vitelliform Macular Dystrophy:

(show top 50)    (show all 108)
idTitleAuthorsYear
1
Comparison of macular choroidal thickness in adult onset foveomacular vitelliform dystrophy and age-related macular degeneration. (24282233)
2014
2
Outer retinal structure in best vitelliform macular dystrophy. (23765342)
2013
3
Optical coherence tomography for multifocal vitelliform macular dystrophy. (23238259)
2013
4
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
5
BEST1 sequence variants in Italian patients with vitelliform macular dystrophy. (23213274)
2012
6
Heavy silicone oil effective in macular hole surgery associated with adult vitelliform macular dystrophy. (21631684)
2012
7
A novel compound heterozygous mutation in the BEST1 gene causes autosomal recessive Best vitelliform macular dystrophy. (22422030)
2012
8
Three-dimensional distribution of the vitelliform lesion, photoreceptors, and retinal pigment epithelium in the macula of patients with best vitelliform macular dystrophy. (22084158)
2012
9
Atypical vitelliform macular dystrophy misdiagnosed as chronic central serous chorioretinopathy: case reports. (22817759)
2012
10
Intravitreal bevacizumab for choroidal neovascularization secondary to Best vitelliform macular dystrophy in a 6-year-old child. (22139615)
2012
11
Autosomal recessive vitelliform macular dystrophy in a large cohort of vitelliform macular dystrophy patients. (21273940)
2011
12
Systematic screening of BEST1 and PRPH2 in juvenile and adult vitelliform macular dystrophies: a rationale for molecular analysis. (21269699)
2011
13
Phenotypic variability in a French family with a novel mutation in the BEST1 gene causing multifocal best vitelliform macular dystrophy. (21293734)
2011
14
Clinicopathologic findings in Best vitelliform macular dystrophy. (21136072)
2011
15
Preferential hyperacuity perimeter in best vitelliform macular dystrophy. (21242858)
2011
16
Course of visual decline in relation to the Best1 genotype in vitelliform macular dystrophy. (20381869)
2010
17
Evaluation of macular structure and function by OCT and electrophysiology in patients with vitelliform macular dystrophy due to mutations in BEST1. (20375334)
2010
18
Effect of docosahexaenoic acid supplementation on the macular function of patients with Best vitelliform macular dystrophy: randomized clinical trial. (20847757)
2010
19
Functional and clinical data of Best vitelliform macular dystrophy patients with mutations in the BEST1 gene. (20057903)
2009
20
Vitelliform macular dystrophy. (19621556)
2009
21
Vitelliform macular dystrophy. (19927491)
2009
22
High-resolution spectral domain optical coherence tomography findings in multifocal vitelliform macular dystrophy. (19298908)
2009
23
Exudative age-related macular degeneration or Best vitelliform macular dystrophy?--A case report. (18655458)
2008
24
Bestrophin-3 (vitelliform macular dystrophy 2-like 3 protein) is essential for the cGMP-dependent calcium-activated chloride conductance in vascular smooth muscle cells. (18776041)
2008
25
Clinical manifestations and gene analysis in one Chinese family with Best vitelliform macular dystrophy]. (18844018)
2008
26
New VMD2 gene mutations identified in patients affected by Best vitelliform macular dystrophy. (17287362)
2007
27
In vivo microscopy of Best's Vitelliform Macular Dystrophy: optical coherence tomography study of combined stage III and IV lesions. (17430522)
2007
28
Vitelliform macular dystrophy. (16877078)
2006
29
Genotype-phenotype correlation and longitudinal course in ten families with Best vitelliform macular dystrophy. (16612637)
2006
30
Gene Symbol: VMD2. Disease: Best vitelliform macular dystrophy (VMD2). (15176385)
2004
31
Fundus autofluorescence and vitelliform macular dystrophy. (15249383)
2004
32
Morphological and functional analyses of adult onset vitelliform macular dystrophy. (12770976)
2003
33
Use of denaturing HPLC and automated sequencing to screen the VMD2 gene for mutations associated with Best's vitelliform macular dystrophy. (12324875)
2002
34
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. (11713080)
2001
35
Best's vitelliform macular dystrophy caused by a new mutation (Val89Ala) in the VMD2 gene. (11449320)
2001
36
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. (10854112)
2000
37
Bestrophin gene mutations in patients with Best vitelliform macular dystrophy. (10331951)
1999
38
Adult vitelliform macular dystrophy is frequently associated with mutations in the peripherin/RDS gene. (9338584)
1997
39
Observation of macular lesion in Best's vitelliform macular dystrophy by scanning laser ophthalmoscope. (8970872)
1995-1996
40
Evidence for genetic heterogeneity in Best's vitelliform macular dystrophy. (8592326)
1995
41
A recombination event excludes the ROM1 locus from the Best's vitelliform macular dystrophy region. (7860071)
1995
42
Vitelliform macular dystrophy: a cause of macular holes with retinal detachments. (7821484)
1994
43
Visual acuity in patients with best vitelliform macular dystrophy. (8233392)
1993
44
Best Vitelliform Macular Dystrophy (20301346)
1993
45
Adult vitelliform macular dystrophy. (2323472)
1990
46
Linkage of atypical vitelliform macular dystrophy (VMD-1) to the soluble glutamate pyruvate transaminase (GPT1) locus. (6823974)
1983
47
Polymorphous presentations in vitelliform macular dystrophy: subretinal neovascularisation and central choroidal atrophy. (687557)
1978
48
Choroidal neovascular membrane in Best's vitelliform macular dystrophy. (949077)
1976
49
Best's vitelliform macular dystrophy. (1110202)
1975
50
A family with vitelliform macular dystrophy. Best's disease. (4479519)
1974

Genetic Variations for Vitelliform Macular Dystrophy

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Vitelliform Macular Dystrophy:

62 (show all 98)
id Symbol AA change Variation ID SNP ID
1BEST1p.Thr6ProVAR_000830rs28940275
2BEST1p.Thr6ProVAR_000830rs28940275
3BEST1p.Val9AlaVAR_000831
4BEST1p.Val9MetVAR_000832rs28940276
5BEST1p.Ala10ThrVAR_000833
6BEST1p.Leu21ValVAR_000834
7BEST1p.Trp24CysVAR_000835
8BEST1p.Arg25GlnVAR_000836
9BEST1p.Arg25TrpVAR_000837
10BEST1p.Ser27ArgVAR_000838
11BEST1p.Gln58LeuVAR_000839
12BEST1p.Tyr85HisVAR_000841rs28940274
13BEST1p.Arg92SerVAR_000842
14BEST1p.Trp93CysVAR_000843rs28940273
15BEST1p.Asn99LysVAR_000844
16BEST1p.Leu100ArgVAR_000845
17BEST1p.Asp104GluVAR_000846
18BEST1p.Arg141HisVAR_000847rs121918284
19BEST1p.Ser209AsnVAR_000848
20BEST1p.Arg218CysVAR_000849
21BEST1p.Arg218GlnVAR_000850
22BEST1p.Arg218SerVAR_000851
23BEST1p.Leu224MetVAR_000852
24BEST1p.Tyr227AsnVAR_000854rs28941469
25BEST1p.Ser231ArgVAR_000855
26BEST1p.Val235MetVAR_000856
27BEST1p.Thr237ArgVAR_000857
28BEST1p.Ala243ValVAR_000858rs28940570
29BEST1p.Ala243ValVAR_000858rs28940570
30BEST1p.Pro297AlaVAR_000860
31BEST1p.Gly299GluVAR_000861rs28941468
32BEST1p.Glu300LysVAR_000862
33BEST1p.Asp301GluVAR_000863
34BEST1p.Asp301AsnVAR_000864
35BEST1p.Phe305SerVAR_000865
36BEST1p.Ile310ThrVAR_000866
37BEST1p.Val311GlyVAR_000867
38BEST1p.Asp312AsnVAR_000868
39BEST1p.Ala10ValVAR_010468
40BEST1p.Arg13HisVAR_010469
41BEST1p.Ser16PheVAR_010470
42BEST1p.Phe17CysVAR_010471
43BEST1p.Ile73AsnVAR_010472
44BEST1p.Leu82ValVAR_010473
45BEST1p.Arg92CysVAR_010474
46BEST1p.Arg92HisVAR_010475
47BEST1p.Gln96HisVAR_010476
48BEST1p.Gly135SerVAR_010478
49BEST1p.Ala146LysVAR_010479rs1800995
50BEST1p.Arg218HisVAR_010481
51BEST1p.Val235LeuVAR_010482
52BEST1p.Gln293LysVAR_010483
53BEST1p.Asn296SerVAR_010484
54BEST1p.Pro297SerVAR_010485rs1805143
55BEST1p.Glu300AspVAR_010486rs1805144
56BEST1p.Thr307IleVAR_010487
57BEST1p.Thr6ArgVAR_017366
58BEST1p.Asn11IleVAR_017367
59BEST1p.Gly26ArgVAR_017368
60BEST1p.Tyr29HisVAR_017369
61BEST1p.Lys30ArgVAR_017370
62BEST1p.Leu41ProVAR_017371
63BEST1p.Arg47HisVAR_017372rs28940278
64BEST1p.Phe80LeuVAR_017373
65BEST1p.Val89AlaVAR_017374
66BEST1p.Thr91IleVAR_017375
67BEST1p.Pro101ThrVAR_017376
68BEST1p.Trp102ArgVAR_017377
69BEST1p.Asp104HisVAR_017378
70BEST1p.Asn133LysVAR_017379
71BEST1p.Leu140ArgVAR_017380
72BEST1p.Ala195ValVAR_017381rs200277476
73BEST1p.Phe113LeuVAR_025732
74BEST1p.Ile201ThrVAR_025733
75BEST1p.Leu207IleVAR_025734rs74653691
76BEST1p.Cys221TrpVAR_025735
77BEST1p.Leu224ProVAR_025737
78BEST1p.Thr241AsnVAR_025738
79BEST1p.Ala243ThrVAR_025739rs28940570
80BEST1p.Phe276LeuVAR_025741
81BEST1p.Leu294ValVAR_025742
82BEST1p.Ile295ThrVAR_025743
83BEST1p.Asn296HisVAR_025744
84BEST1p.Phe298SerVAR_025745
85BEST1p.Asp302GlyVAR_025746
86BEST1p.Asp302HisVAR_025747
87BEST1p.Asp302ValVAR_025748
88BEST1p.Asp303GluVAR_025749
89BEST1p.Glu306AspVAR_025750
90BEST1p.Glu306GlyVAR_025751
91BEST1p.Thr307AlaVAR_025752
92BEST1p.Asn308SerVAR_025753
93BEST1p.Ile3ThrVAR_058273
94BEST1p.Val242MetVAR_058277
95BEST1p.Gly299AlaVAR_058313
96PRPH2p.Ser212ThrVAR_006878
97PRPH2p.Val268IleVAR_006890
98PRPH2p.Gly305AspVAR_006892

Expression for genes affiliated with Vitelliform Macular Dystrophy

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Vitelliform Macular Dystrophy

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

Pathways for genes affiliated with Vitelliform Macular Dystrophy

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Sources:
37NCBI BioSystems Database, 53Reactome
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Compounds for genes affiliated with Vitelliform Macular Dystrophy

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Sources:
44Novoseek, 11DrugBank, 24HMDB, 49PharmGKB
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Compounds related to Vitelliform Macular Dystrophy according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1alpha-linolenic acid44 11 2411.7FADS2, FADS1
2gamma-linolenic acid44 2410.6FADS2, FADS1
3chlorine44 2410.3BEST1, BEST2, BEST3, BEST4
4phospholipid449.2FEN1, FADS1, SCGB1A1, ABCA4
5lipid448.3FEN1, FADS1, SCGB1A1, MITF, GPT, ABCA4
6calcium44 49 11 2411.2FEN1, SCGB1A1, PRPH2, MITF, BEST4, BEST3

GO Terms for genes affiliated with Vitelliform Macular Dystrophy

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Sources:
16Gene Ontology
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Cellular components related to Vitelliform Macular Dystrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1photoreceptor outer segment membraneGO:04262210.1ROM1, PRPH
2chloride channel complexGO:0347078.9BEST1, BEST2, BEST3, BEST4

Biological processes related to Vitelliform Macular Dystrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1unsaturated fatty acid biosynthetic processGO:0066369.7FADS1, FADS2
2linoleic acid metabolic processGO:0436519.7FADS2, FADS1
3unsaturated fatty acid metabolic processGO:0335599.6FADS2, FADS1
4visual perceptionGO:0076019.5BEST1, ROM1, ABCA4, IMPG1, PRPH2
5alpha-linolenic acid metabolic processGO:0361099.4FADS2, FADS1

Molecular functions related to Vitelliform Macular Dystrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1chloride channel activityGO:0052549.2BEST1, BEST2, BEST3, BEST4

Products for genes affiliated with Vitelliform Macular Dystrophy

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Vitelliform Macular Dystrophy

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet