MCID: VTL001
MIFTS: 38

Vitelliform Macular Dystrophy malady

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Vitelliform Macular Dystrophy

Aliases & Descriptions for Vitelliform Macular Dystrophy:

Name: Vitelliform Macular Dystrophy 12 25 29 14 69
Juvenile-Onset Vitelliform Macular Dystrophy 12 69
Macular Dystrophy, Vitelliform 52
Best Macular Dystrophy 12
Vitelliform Dystrophy 25
Best Disease 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0050661
ICD10 33 H35.5

Summaries for Vitelliform Macular Dystrophy

Genetics Home Reference : 25 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 based summary : Vitelliform Macular Dystrophy, also known as juvenile-onset vitelliform macular dystrophy, is related to best vitelliform macular dystrophy and macular dystrophy, vitelliform, 2. An important gene associated with Vitelliform Macular Dystrophy is BEST1 (Bestrophin 1), and among its related pathways/superpathways is Ion channel transport. The drugs Carboplatin and Gemcitabine have been mentioned in the context of this disorder. Affiliated tissues include retina, eye and smooth muscle, and related phenotype is vision/eye.

Disease Ontology : 12 A macular degeneration that it is characterized by the disruption of cells in a small area near the center of the retina, the macula and may cause progressive vision loss.

Wikipedia : 71 Vitelliform macular dystrophy or vitelliform dystrophy is an irregular autosomal dominant eye disorder... more...

Related Diseases for Vitelliform Macular Dystrophy

Diseases in the Vitelliform Macular Dystrophy family:

Macular Dystrophy, Vitelliform, 5 Macular Dystrophy, Vitelliform, 3
Macular Dystrophy, Vitelliform, 4 Macular Dystrophy, Vitelliform, 2
Prph2-Related Adult-Onset Vitelliform Macular Dystrophy

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

(show all 25)
id Related Disease Score Top Affiliating Genes
1 best vitelliform macular dystrophy 12.6
2 macular dystrophy, vitelliform, 2 12.1
3 prph2-related adult-onset vitelliform macular dystrophy 12.0
4 macular dystrophy, vitelliform, 3 12.0
5 macular dystrophy, vitelliform, 4 11.9
6 macular dystrophy, atypical vitelliform 11.3
7 macular dystrophy, vitelliform, 5 11.3
8 choroiditis 10.5
9 retinitis 10.3
10 restless legs syndrome 6 10.1 BEST1 PRPH2
11 macular holes 10.1
12 parachute tricuspid valve 10.0 PRPH2 ROM1
13 bone fracture 10.0 BEST1 BEST2 PRPH2
14 kearns-sayre syndrome 9.9
15 retinal detachment 9.9
16 central serous chorioretinopathy 9.9
17 choriodal dystrophy, central areolar 2 9.9 PRPH2 ROM1
18 blessig's cysts 9.9 BEST1 PRPH2 ROM1
19 adult liposarcoma 9.9 BEST1 PRPH2 ROM1
20 hypertrichotic osteochondrodysplasia 9.9 PRPH2 ROM1
21 polyhydramnios 9.9 BEST1 PRPH2 ROM1
22 liver cirrhosis 9.9 BEST1 PRPH2 ROM1
23 vitreoretinochoroidopathy 9.6 BEST1 FEN1 PRPH2 ROM1
24 chd2-related neurodevelopmental disorders 9.4 BEST1 DDB1 FEN1 PYGM ROM1
25 alcohol-related neurodevelopmental disorder 8.7 BEST1 BEST2 BEST3 BEST4 DDB1 FEN1

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



Diseases related to Vitelliform Macular Dystrophy

Symptoms & Phenotypes for Vitelliform Macular Dystrophy

MGI Mouse Phenotypes related to Vitelliform Macular Dystrophy:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 9.02 BEST2 DDB1 PRPH2 ROM1 BEST1

Drugs & Therapeutics for Vitelliform Macular Dystrophy

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

(show all 22)
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
rituximab Approved Phase 1, Phase 2 174722-31-7 10201696
7
Docetaxel Approved May 1996, Investigational Phase 2 114977-28-5 148124 9877265
8 Anti-Infective Agents Phase 2
9 Antimetabolites Phase 2
10 Antimetabolites, Antineoplastic Phase 2
11 Antimitotic Agents Phase 2,Phase 1
12 Antineoplastic Agents, Phytogenic Phase 2,Phase 1
13 Antiviral Agents Phase 2
14 Immunosuppressive Agents Phase 2
15 Angiogenesis Inhibitors Phase 1, Phase 2
16 Angiogenesis Modulating Agents Phase 1, Phase 2
17 Antibodies Phase 1, Phase 2
18 Antirheumatic Agents Phase 1, Phase 2
19 Immunoglobulins Phase 1, Phase 2
20
Paclitaxel Approved, Vet_approved Phase 1 33069-62-4 36314
21
Trastuzumab Approved, Investigational Phase 1 180288-69-1 9903
22 Albumin-Bound Paclitaxel Phase 1

Interventional clinical trials:


id Name Status NCT ID Phase
1 The 'MADe IT' Clinical Trial: Molecular Analyses Directed Individualized Therapy for Advanced Non-Small Cell Lung Cancer Completed NCT00215930 Phase 2
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
4 BI-1206 and an Anti-CD20 Antibody in Patients With CD32b Positive B-cell Lymphoma or Leukaemia Recruiting NCT02933320 Phase 1, Phase 2
5 MK-2206, Paclitaxel and Trastuzumab in Treating Patients With HER2-overexpressing Solid Tumor Malignancies Completed NCT01235897 Phase 1
6 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
7 Stem Cell Models of Best Disease and Other Retinal Degenerative Diseases. Recruiting NCT02162953
8 Cell Collection to Study Eye Diseases Recruiting NCT01432847
9 Inherited Retinal Degenerative Disease Registry Recruiting NCT02435940

Search NIH Clinical Center for Vitelliform Macular Dystrophy

Genetic Tests for Vitelliform Macular Dystrophy

Genetic tests related to Vitelliform Macular Dystrophy:

id Genetic test Affiliating Genes
1 Vitelliform Macular Dystrophy 29

Anatomical Context for Vitelliform Macular Dystrophy

MalaCards organs/tissues related to Vitelliform Macular Dystrophy:

39
Retina, Eye, Smooth Muscle

Publications for Vitelliform Macular Dystrophy

Articles related to Vitelliform Macular Dystrophy:

(show top 50) (show all 132)
id Title Authors Year
1
CENTRAL SEROUS CHORIORETINOPATHYLIKE MIMICKING MULTIFOCAL VITELLIFORM MACULAR DYSTROPHY: AN OCULAR SIDE EFFECT OF MITOGEN/EXTRACELLULAR SIGNAL-REGULATED KINASE INHIBITORS. ( 27902541 )
2016
2
Novel BEST1 Mutations and Special Clinical Features of Best Vitelliform Macular Dystrophy. ( 27078032 )
2016
3
PHOTORECEPTOR INNER SEGMENT MORPHOLOGY IN BEST VITELLIFORM MACULAR DYSTROPHY. ( 27467379 )
2016
4
Choroidal neovascularization secondary to Best vitelliform macular dystrophy detected by optical coherence tomography angiography. ( 27867022 )
2016
5
Quantitative Fundus Autofluorescence in Best Vitelliform Macular Dystrophy: RPE Lipofuscin is not Increased in Non-Lesion Areas of Retina. ( 26427423 )
2016
6
A NOVEL P.ASP304GLY MUTATION IN BEST1 GENE ASSOCIATED WITH ATYPICAL BEST VITELLIFORM MACULAR DYSTROPHY PHENOTYPE AND HIGH INTRAFAMILIAL VARIABILITY. ( 26807628 )
2016
7
Choroidal thickness using EDI-OCT in adult-onset vitelliform macular dystrophy. ( 27847623 )
2016
8
Functional assessment of the fundus autofluorescence pattern in Best vitelliform macular dystrophy. ( 26490373 )
2015
9
RECURRENCE OF VITELLIFORM LESIONS ASSOCIATED WITH TEMPORARY VISION LOSS IN BEST VITELLIFORM MACULAR DYSTROPHY. ( 26418331 )
2015
10
Long-Term Results of Photodynamic Therapy for Choroidal Neovascularization in Pediatric Patients with Best Vitelliform Macular Dystrophy. ( 25675349 )
2015
11
Mutation analysis of BEST1 in Japanese patients with Best's vitelliform macular dystrophy. ( 26201355 )
2015
12
CHOROIDAL THICKNESS IN BEST VITELLIFORM MACULAR DYSTROPHY. ( 26447398 )
2015
13
Retinal structure in young patients aged 10A years or less with Best vitelliform macular dystrophy. ( 25940553 )
2015
14
Focal Choroidal Excavation in Best Vitelliform Macular Dystrophy: Case Report. ( 26155505 )
2015
15
Two novel mutations in the bestrophin-1 gene and associated clinical observations in patients with best vitelliform macular dystrophy. ( 25936525 )
2015
16
Application of evolutionary based in silico methods to predict the impact of single amino Acid substitutions in vitelliform macular dystrophy. ( 24629188 )
2014
17
Quantitative fundus autofluorescence and optical coherence tomography in best vitelliform macular dystrophy. ( 24526438 )
2014
18
Multimodal analysis of the progression of Best vitelliform macular dystrophy. ( 24791142 )
2014
19
Frequency and Clinical Pattern of Vitelliform Macular Dystrophy Caused by Mutations of Interphotoreceptor Matrix IMPG1 and IMPG2 Genes. ( 25085631 )
2014
20
Follow-up of a case of vitelliform macular dystrophy over an 8-year period. ( 26011973 )
2014
21
Bilateral choroidal excavation in best vitelliform macular dystrophy. ( 24512759 )
2014
22
Fundus Autofluorescence Patterns in Best Vitelliform Macular Dystrophy. ( 25068640 )
2014
23
Dome-shaped macula associated with Best vitelliform macular dystrophy. ( 25384969 )
2014
24
Near-Infrared Fundus Autofluorescence in Subclinical Best Vitelliform Macular Dystrophy. ( 25174897 )
2014
25
Best's vitelliform macular dystrophy in 10- and 31-month-old siblings. ( 25314311 )
2014
26
Choroidal neovascularization secondary to Best's vitelliform macular dystrophy in two siblings of a Malay family. ( 24648718 )
2014
27
Vitelliform macular dystrophy. ( 24993383 )
2014
28
Mutations in IMPG1 cause vitelliform macular dystrophies. ( 23993198 )
2013
29
Outer retinal structure in best vitelliform macular dystrophy. ( 23765342 )
2013
30
Improvement of visual acuity after transcorneal electrical stimulation in case of Best vitelliform macular dystrophy. ( 23604515 )
2013
31
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
32
Optical coherence tomography for multifocal vitelliform macular dystrophy. ( 23238259 )
2013
33
Intravitreal bevacizumab for choroidal neovascularization secondary to Best vitelliform macular dystrophy in a 6-year-old child. ( 22139615 )
2012
34
Heavy silicone oil effective in macular hole surgery associated with adult vitelliform macular dystrophy. ( 21631684 )
2012
35
Frequency, genotype, and clinical spectrum of best vitelliform macular dystrophy: data from a national center in Denmark. ( 22633354 )
2012
36
A novel compound heterozygous mutation in the BEST1 gene causes autosomal recessive Best vitelliform macular dystrophy. ( 22422030 )
2012
37
Atypical vitelliform macular dystrophy misdiagnosed as chronic central serous chorioretinopathy: case reports. ( 22817759 )
2012
38
Three-dimensional distribution of the vitelliform lesion, photoreceptors, and retinal pigment epithelium in the macula of patients with best vitelliform macular dystrophy. ( 22084158 )
2012
39
Functional and anatomic changes in bilateral choroidal neovascularization associated with vitelliform macular dystrophy after intravitreal bevacizumab. ( 22742532 )
2012
40
BEST1 sequence variants in Italian patients with vitelliform macular dystrophy. ( 23213274 )
2012
41
The spectrum of subclinical Best vitelliform macular dystrophy in subjects with mutations in BEST1 gene. ( 21436265 )
2011
42
Anterior segment abnormalities and angle-closure glaucoma in a family with a mutation in the BEST1 gene and Best vitelliform macular dystrophy. ( 21473666 )
2011
43
Phenotypic variability in a French family with a novel mutation in the BEST1 gene causing multifocal best vitelliform macular dystrophy. ( 21293734 )
2011
44
Intravitreal Ranibizumab for Choroidal Neovascularization in Best's Vitelliform Macular Dystrophy in a 6-Year-Old Boy. ( 21417187 )
2011
45
Autosomal recessive vitelliform macular dystrophy in a large cohort of vitelliform macular dystrophy patients. ( 21273940 )
2011
46
Autosomal recessive best vitelliform macular dystrophy: report of a family and management of early-onset neovascular complications. ( 21320969 )
2011
47
Systematic screening of BEST1 and PRPH2 in juvenile and adult vitelliform macular dystrophies: a rationale for molecular analysis. ( 21269699 )
2011
48
Preferential hyperacuity perimeter in best vitelliform macular dystrophy. ( 21242858 )
2011
49
Clinicopathologic findings in Best vitelliform macular dystrophy. ( 21136072 )
2011
50
Novel and homozygous BEST1 mutations in Chinese patients with Best vitelliform macular dystrophy. ( 20057343 )
2010

Variations for Vitelliform Macular Dystrophy

Expression for Vitelliform Macular Dystrophy

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

Pathways for Vitelliform Macular Dystrophy

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

id Super pathways Score Top Affiliating Genes
1
Show member pathways
11.42 BEST1 BEST2 BEST3 BEST4

GO Terms for Vitelliform Macular Dystrophy

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

id Name GO ID Score Top Affiliating Genes
1 chloride channel complex GO:0034707 8.92 BEST1 BEST2 BEST3 BEST4

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

id Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.56 BEST1 BEST2 BEST3 BEST4
2 visual perception GO:0007601 9.33 BEST1 PRPH2 ROM1
3 chloride transmembrane transport GO:1902476 9.26 BEST1 BEST2 BEST3 BEST4
4 chloride transport GO:0006821 8.92 BEST1 BEST2 BEST3 BEST4

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

id Name GO ID Score Top Affiliating Genes
1 damaged DNA binding GO:0003684 8.96 DDB1 FEN1
2 chloride channel activity GO:0005254 8.92 BEST1 BEST2 BEST3 BEST4

Sources for Vitelliform Macular Dystrophy

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70 UMLS via Orphanet
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