MCID: VTL001
MIFTS: 41

Vitelliform Macular Dystrophy

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Vitelliform Macular Dystrophy

MalaCards integrated aliases for Vitelliform Macular Dystrophy:

Name: Vitelliform Macular Dystrophy 12 24 36 28 14 69
Juvenile-Onset Vitelliform Macular Dystrophy 12 69
Macular Dystrophy, Vitelliform 72 51
Best Macular Dystrophy 12
Vitelliform Dystrophy 24
Best Disease 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0050661
ICD10 32 H35.5
KEGG 36 H00814

Summaries for Vitelliform Macular Dystrophy

Genetics Home Reference : 24 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, 3. An important gene associated with Vitelliform Macular Dystrophy is VMD1 (Vitelliform Macular Dystrophy, Atypical), and among its related pathways/superpathways is Ion channel transport. The drugs Azacitidine and Benzocaine have been mentioned in the context of this disorder. Affiliated tissues include retina, eye and b cells.

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 : 72 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, 2 Macular Dystrophy, Vitelliform, 1
Macular Dystrophy, Vitelliform, 3 Macular Dystrophy, Vitelliform, 4
Macular Dystrophy, Vitelliform, 5

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

(show all 31)
# Related Disease Score Top Affiliating Genes
1 best vitelliform macular dystrophy 33.4 BEST1 FEN1 ROM1
2 macular dystrophy, vitelliform, 3 33.1 BEST1 IMPG1 PRPH2
3 bestrophinopathy 29.8 BEST1 BEST2 PRPH2
4 macular degeneration, age-related, 1 29.8 BEST1 IMPG1 PRPH2
5 macular dystrophy, vitelliform, 2 12.2
6 macular dystrophy, vitelliform, 1 12.0
7 macular dystrophy, vitelliform, 4 11.4
8 macular dystrophy, vitelliform, 5 11.4
9 vitreoretinochoroidopathy dominant 11.2
10 choroiditis 10.6
11 retinitis 10.5
12 aging 10.3
13 macular holes 10.2
14 radin blood group antigen 10.0
15 retinal detachment 10.0
16 tuberous sclerosis 1 10.0
17 kearns-sayre syndrome 10.0
18 bestrophinopathy, autosomal recessive 10.0
19 hydrops, lactic acidosis, and sideroblastic anemia 10.0
20 tuberous sclerosis 10.0
21 macular retinal edema 10.0
22 central serous chorioretinopathy 10.0
23 butterfly-shaped pigment dystrophy 9.7 PRPH2 ROM1
24 stargardt disease 9.7 IMPG1 PRPH2
25 retinitis pigmentosa 7 9.6 PRPH2 ROM1
26 peripheral retinal degeneration 9.5 BEST1 PRPH2 ROM1
27 rhyns syndrome 9.5 BEST1 PRPH2 ROM1
28 retinal disease 9.5 BEST1 PRPH2 ROM1
29 fundus dystrophy 9.5 BEST1 PRPH2 ROM1
30 retinal degeneration 9.4 BEST1 PRPH2 ROM1
31 retinitis pigmentosa 8.7 BEST1 IMPG1 PRPH2 ROM1

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



Diseases related to Vitelliform Macular Dystrophy

Symptoms & Phenotypes for Vitelliform Macular Dystrophy

Drugs & Therapeutics for Vitelliform Macular Dystrophy

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

(show all 28)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Azacitidine Approved, Investigational Phase 3 320-67-2 9444
2
Benzocaine Approved, Investigational Phase 3 1994-09-7, 94-09-7 2337
3 tannic acid Approved, Nutraceutical Phase 3
4 Antimetabolites Phase 3,Phase 2
5 Antimetabolites, Antineoplastic Phase 3,Phase 2
6
Carboplatin Approved Phase 2 41575-94-4 10339178 38904 498142
7
Gemcitabine Approved Phase 2 95058-81-4 60750
8
Vinorelbine Approved, Investigational Phase 2 71486-22-1 44424639 60780
9
alemtuzumab Approved, Investigational Phase 2 216503-57-0
10
Ranibizumab Approved Phase 1, Phase 2 347396-82-1 459903
11
Paclitaxel Approved, Vet_approved Phase 2,Phase 1 33069-62-4 36314
12
Fluorouracil Approved Phase 2 51-21-8 3385
13
Oxaliplatin Approved, Investigational Phase 2 61825-94-3 43805 6857599 5310940 9887054
14
rituximab Approved Phase 1, Phase 2 174722-31-7 10201696
15
leucovorin Approved, Nutraceutical Phase 2 58-05-9 143 6006
16
Docetaxel Approved May 1996, Investigational Phase 2 114977-28-5 148124 9877265
17 Anti-Infective Agents Phase 2
18 Antimitotic Agents Phase 2,Phase 1
19 Antineoplastic Agents, Phytogenic Phase 2,Phase 1
20 Antiviral Agents Phase 2
21 Immunosuppressive Agents Phase 2
22 Angiogenesis Inhibitors Phase 1, Phase 2
23 Angiogenesis Modulating Agents Phase 1, Phase 2
24 Albumin-Bound Paclitaxel Phase 2,Phase 1
25 Antibodies Phase 1, Phase 2
26 Antirheumatic Agents Phase 1, Phase 2
27 Immunoglobulins Phase 1, Phase 2
28
Trastuzumab Approved, Investigational Phase 1 180288-69-1 9903

Interventional clinical trials:

(show all 11)

# Name Status NCT ID Phase Drugs
1 A Study of Eltrombopag or Placebo in Combination With Azacitidine in Subjects With International Prognostic Scoring System (IPSS) Intermediate-1, Intermediate-2 or High-risk Myelodysplastic Syndromes (MDS) Terminated NCT02158936 Phase 3 Eltrombopag;Azacitidine;Placebo;Placebo
2 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
3 Subcutaneous Alemtuzumab (CAMPATH®, MabCampath®) in Relapsed/Refractory B-Cell Chronic Lymphocytic Leukemia Completed NCT00328198 Phase 2
4 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)
5 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
6 BI-1206 and an Anti-CD20 Antibody in Patients With CD32b Positive B-cell Lymphoma or Leukaemia Recruiting NCT02933320 Phase 1, Phase 2
7 MK-2206, Paclitaxel and Trastuzumab in Treating Patients With HER2-overexpressing Solid Tumor Malignancies Completed NCT01235897 Phase 1 MK-2206;Paclitaxel;Trastuzumab
8 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
9 Cell Collection to Study Eye Diseases Recruiting NCT01432847
10 Inherited Retinal Degenerative Disease Registry Recruiting NCT02435940
11 Stem Cell Models of Best Disease and Other Retinal Degenerative Diseases. Active, not recruiting NCT02162953

Search NIH Clinical Center for Vitelliform Macular Dystrophy

Genetic Tests for Vitelliform Macular Dystrophy

Genetic tests related to Vitelliform Macular Dystrophy:

# Genetic test Affiliating Genes
1 Vitelliform Macular Dystrophy 28

Anatomical Context for Vitelliform Macular Dystrophy

MalaCards organs/tissues related to Vitelliform Macular Dystrophy:

38
Retina, Eye, B Cells, Lung, Smooth Muscle

Publications for Vitelliform Macular Dystrophy

Articles related to Vitelliform Macular Dystrophy:

(show top 50) (show all 146)
# Title Authors Year
1
Genetic variations in Bestrophina891 and associated clinical findings in two Chinese patients with juvenilea89onset and adulta89onset best vitelliform macular dystrophy. ( 29115605 )
2018
2
Tuberous sclerosis complex with Best's vitelliform macular dystrophy: A combined presentation. ( 29380781 )
2018
3
MICROPERIMETRY IN BEST VITELLIFORM MACULAR DYSTROPHY. ( 28301340 )
2017
4
Novel Presenting Phenotype in a Child With Autosomal Dominant Best's Vitelliform Macular Dystrophy. ( 28728185 )
2017
5
Retinal Vascular Impairment in Best Vitelliform Macular Dystrophy Assessed by Means of Optical Coherence Tomography Angiography. ( 29288639 )
2017
6
Optical Coherence Tomography Examination of the Retinal Pigment Epithelium in Best Vitelliform Macular Dystrophy. ( 28187978 )
2017
7
Bestrophin 1 gene analysis and associated clinical findings in a Chinese patient with Best vitelliform macular dystrophy. ( 28791410 )
2017
8
SPECTRAL DOMAIN OPTICAL COHERENCE TOMOGRAPHY FEATURES IN DIFFERENT STAGES OF BEST VITELLIFORM MACULAR DYSTROPHY. ( 28376040 )
2017
9
Optical coherence tomography in Best vitelliform macular dystrophy. ( 28233888 )
2017
10
INTRARETINAL HYPERREFLECTIVE FOCI IN BEST VITELLIFORM MACULAR DYSTROPHY. ( 29065010 )
2017
11
OPTICAL COHERENCE TOMOGRAPHY ANGIOGRAPHY FOR THE DETECTION OF SECONDARY CHOROIDAL NEOVASCULARIZATION IN VITELLIFORM MACULAR DYSTROPHY. ( 28817420 )
2017
12
Adult-Onset Vitelliform Macular Dystrophy caused by BEST1 p.Ile38Ser Mutation is a Mild Form of Best Vitelliform Macular Dystrophy. ( 28831140 )
2017
13
Screening of BEST1 Gene in a Chinese Cohort With Best Vitelliform Macular Dystrophy or Autosomal Recessive Bestrophinopathy. ( 28687848 )
2017
14
Novel BEST1 Mutations and Special Clinical Features of Best Vitelliform Macular Dystrophy. ( 27078032 )
2016
15
Best Vitelliform Macular Dystrophy In Afghan Twins. ( 28718575 )
2016
16
Choroidal thickness using EDI-OCT in adult-onset vitelliform macular dystrophy. ( 27847623 )
2016
17
Choroidal neovascularization secondary to Best vitelliform macular dystrophy detected by optical coherence tomography angiography. ( 27867022 )
2016
18
Quantitative Fundus Autofluorescence in Best Vitelliform Macular Dystrophy: RPE Lipofuscin is not Increased in Non-Lesion Areas of Retina. ( 26427423 )
2016
19
CENTRAL SEROUS CHORIORETINOPATHYLIKE MIMICKING MULTIFOCAL VITELLIFORM MACULAR DYSTROPHY: AN OCULAR SIDE EFFECT OF MITOGEN/EXTRACELLULAR SIGNAL-REGULATED KINASE INHIBITORS. ( 27902541 )
2016
20
PHOTORECEPTOR INNER SEGMENT MORPHOLOGY IN BEST VITELLIFORM MACULAR DYSTROPHY. ( 27467379 )
2016
21
A NOVEL P.ASP304GLY MUTATION IN BEST1 GENE ASSOCIATED WITH ATYPICAL BEST VITELLIFORM MACULAR DYSTROPHY PHENOTYPE AND HIGH INTRAFAMILIAL VARIABILITY. ( 26807628 )
2016
22
Functional assessment of the fundus autofluorescence pattern in Best vitelliform macular dystrophy. ( 26490373 )
2015
23
RECURRENCE OF VITELLIFORM LESIONS ASSOCIATED WITH TEMPORARY VISION LOSS IN BEST VITELLIFORM MACULAR DYSTROPHY. ( 26418331 )
2015
24
Mutation analysis of BEST1 in Japanese patients with Best's vitelliform macular dystrophy. ( 26201355 )
2015
25
Retinal structure in young patients aged 10A years or less with Best vitelliform macular dystrophy. ( 25940553 )
2015
26
CHOROIDAL THICKNESS IN BEST VITELLIFORM MACULAR DYSTROPHY. ( 26447398 )
2015
27
Long-Term Results of Photodynamic Therapy for Choroidal Neovascularization in Pediatric Patients with Best Vitelliform Macular Dystrophy. ( 25675349 )
2015
28
Two novel mutations in the bestrophin-1 gene and associated clinical observations in patients with best vitelliform macular dystrophy. ( 25936525 )
2015
29
Focal Choroidal Excavation in Best Vitelliform Macular Dystrophy: Case Report. ( 26155505 )
2015
30
Best's vitelliform macular dystrophy in 10- and 31-month-old siblings. ( 25314311 )
2014
31
Frequency and Clinical Pattern of Vitelliform Macular Dystrophy Caused by Mutations of Interphotoreceptor Matrix IMPG1 and IMPG2 Genes. ( 25085631 )
2014
32
Vitelliform macular dystrophy. ( 24993383 )
2014
33
Dome-shaped macula associated with Best vitelliform macular dystrophy. ( 25384969 )
2014
34
Bilateral choroidal excavation in best vitelliform macular dystrophy. ( 24512759 )
2014
35
Choroidal neovascularization secondary to Best's vitelliform macular dystrophy in two siblings of a Malay family. ( 24648718 )
2014
36
Application of evolutionary based in silico methods to predict the impact of single amino Acid substitutions in vitelliform macular dystrophy. ( 24629188 )
2014
37
Follow-up of a case of vitelliform macular dystrophy over an 8-year period. ( 26011973 )
2014
38
Quantitative fundus autofluorescence and optical coherence tomography in best vitelliform macular dystrophy. ( 24526438 )
2014
39
Multimodal analysis of the progression of Best vitelliform macular dystrophy. ( 24791142 )
2014
40
Fundus Autofluorescence Patterns in Best Vitelliform Macular Dystrophy. ( 25068640 )
2014
41
Near-Infrared Fundus Autofluorescence in Subclinical Best Vitelliform Macular Dystrophy. ( 25174897 )
2014
42
Optical coherence tomography for multifocal vitelliform macular dystrophy. ( 23238259 )
2013
43
Outer retinal structure in best vitelliform macular dystrophy. ( 23765342 )
2013
44
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
45
Mutations in IMPG1 cause vitelliform macular dystrophies. ( 23993198 )
2013
46
Improvement of visual acuity after transcorneal electrical stimulation in case of Best vitelliform macular dystrophy. ( 23604515 )
2013
47
Three-dimensional distribution of the vitelliform lesion, photoreceptors, and retinal pigment epithelium in the macula of patients with best vitelliform macular dystrophy. ( 22084158 )
2012
48
A novel compound heterozygous mutation in the BEST1 gene causes autosomal recessive Best vitelliform macular dystrophy. ( 22422030 )
2012
49
Atypical vitelliform macular dystrophy misdiagnosed as chronic central serous chorioretinopathy: case reports. ( 22817759 )
2012
50
Heavy silicone oil effective in macular hole surgery associated with adult vitelliform macular dystrophy. ( 21631684 )
2012

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:

# 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:

# 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:

# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.56 BEST1 BEST2 BEST3 BEST4
2 visual perception GO:0007601 9.46 BEST1 IMPG1 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:

# Name GO ID Score Top Affiliating Genes
1 chloride channel activity GO:0005254 8.92 BEST1 BEST2 BEST3 BEST4

Sources for Vitelliform Macular Dystrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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