BVMD
MCID: BST007
MIFTS: 41

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 25 54
Juvenile-Onset Vitelliform Macular Dystrophy 54 74
Vitelliform Macular Dystrophy Type 2 25 54
Best Macular Dystrophy 25 54
Macular Degeneration, Polymorphic Vitelline 54
Polymorphic Vitelline Macular Degeneration 54
Early-Onset Vitelliform Macular Dystrophy 54
Vitelliform Macular Dystrophy 74
Best Disease 54
Vmd2 54
Bvmd 54

Characteristics:

GeneReviews:

25
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:

Summaries for Best Vitelliform Macular Dystrophy

NIH Rare Diseases : 54 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), and among its related pathways/superpathways are Fatty acid metabolism and alpha-linolenic (omega3) and linoleic (omega6) acid metabolism. The drugs Prednisolone phosphate and Prednisolone have been mentioned in the context of this disorder. Affiliated tissues include eye, retina and b cells, 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:

33
# Description HPO Frequency HPO Source Accession
1 metamorphopsia 33 hallmark (90%) HP:0012508
2 cystoid macular degeneration 33 hallmark (90%) HP:0008028
3 abnormality of color vision 33 frequent (33%) HP:0000551
4 visual field defect 33 occasional (7.5%) HP:0001123
5 choroideremia 33 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 top 50) (show all 74)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
2
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
3
Methotrexate Approved Phase 4,Phase 3,Phase 2 1959-05-2, 59-05-2 126941
4
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
5
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
6
rituximab Approved Phase 4,Phase 3,Phase 1,Phase 2 174722-31-7 10201696
7
leucovorin Approved Phase 4,Phase 3,Phase 2 58-05-9 6006 143
8
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 3,Phase 2 59-30-3 6037
9
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7
10 Prednisolone acetate Phase 4
11 Peripheral Nervous System Agents Phase 4
12 Anti-Inflammatory Agents Phase 4
13 Antimetabolites Phase 4,Phase 3,Phase 2
14 Antineoplastic Agents, Immunological Phase 4,Phase 3,Phase 2,Phase 1
15 Hormones Phase 4
16 Vitamin B Complex Phase 4,Phase 3,Phase 2
17 Autonomic Agents Phase 4
18 Immunosuppressive Agents Phase 4,Phase 3,Phase 2
19 Antimetabolites, Antineoplastic Phase 4,Phase 3,Phase 2
20 Antineoplastic Agents, Hormonal Phase 4
21 Hormone Antagonists Phase 4
22 Immunologic Factors Phase 4,Phase 3,Phase 2,Phase 1
23 Nucleic Acid Synthesis Inhibitors Phase 4,Phase 3,Phase 2
24 Antiemetics Phase 4
25 Methylprednisolone Acetate Phase 4
26 Vitamin B9 Phase 4,Phase 3,Phase 2
27 Folate Phase 4,Phase 3,Phase 2
28 Neuroprotective Agents Phase 4
29 Dermatologic Agents Phase 4,Phase 3,Phase 2
30 Antirheumatic Agents Phase 4,Phase 3,Phase 2,Phase 1
31 Folic Acid Antagonists Phase 4,Phase 3,Phase 2
32 Gastrointestinal Agents Phase 4
33 glucocorticoids Phase 4
34 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4
35 Protective Agents Phase 4,Phase 2
36
Benzocaine Approved, Investigational Phase 3 94-09-7, 1994-09-7 2337
37
Azacitidine Approved, Investigational Phase 3 320-67-2 9444
38
tannic acid Approved Phase 3 1401-55-4
39
Vinorelbine Approved, Investigational Phase 2 71486-22-1 60780 44424639
40
Gemcitabine Approved Phase 2 95058-81-4 60750
41
Docetaxel Approved, Investigational Phase 2 114977-28-5 148124
42
Carboplatin Approved Phase 2 41575-94-4 38904 10339178 498142
43
alemtuzumab Approved, Investigational Phase 2 216503-57-0
44
Levoleucovorin Approved, Investigational Phase 2 68538-85-2
45
Ranibizumab Approved Phase 1, Phase 2 347396-82-1 459903
46
Paclitaxel Approved, Vet_approved Phase 2,Phase 1 33069-62-4 36314
47
Oxaliplatin Approved, Investigational Phase 2 61825-94-3 6857599 5310940 9887054 43805
48
Fluorouracil Approved Phase 2 51-21-8 3385
49
Durvalumab Approved, Investigational Phase 1, Phase 2 1428935-60-7
50
Lenalidomide Approved Phase 1, Phase 2 191732-72-6 216326

Interventional clinical trials:

(show all 34)
# Name Status NCT ID Phase Drugs
1 A Study of MabThera (Rituximab) in Patients With Rheumatoid Arthritis and an Inadequate Response to Methotrexate Completed NCT01000610 Phase 4 rituximab [MabThera/Rituxan];methotrexate;methylprednisolone
2 A Study of RoActemra/Actemra (Tocilizumab) in Adult Patients With Rheumatoid Arthritis (SVOBODA Programme) Completed NCT02010216 Phase 4 tocilizumab [RoActemra/Actemra]
3 A Study of Tocilizumab and Methotrexate Treatment Strategies (Adding Tocilizumab to Methotrexate Versus Switching to Tocilizumab) in Patients With Active Rheumatoid Arthritis With Inadequate Response to Prior Methotrexate Treatment Completed NCT00810199 Phase 3 tocilizumab [RoActemra/Actemra];methotrexate;placebo
4 An Extension to Study MA21573, Evaluating Tocilizumab in Patients With Active Rheumatoid Arthritis and an Inadequate Response to Current Non-Biological DMARDs and/or Anti-tumor Necrosis Factor (TNF) Therapy Completed NCT00883753 Phase 3 tocilizumab [RoActemra/Actemra]
5 A Study to Assess the Effect of Tocilizumab + Methotrexate on Prevention of Structural Joint Damage in Patients With Moderate to Severe Active Rheumatoid Arthritis (RA) Completed NCT00106535 Phase 3 tocilizumab [RoActemra/Actemra];Placebo;Methotrexate
6 A Study of Tocilizumab and Methotrexate in Combination or as Monotherapy in Treatment-Naïve Patients With Early Rheumatoid Arthritis Completed NCT01034137 Phase 3 methotrexate;placebo MTX;placebo TCZ;tocilizumab [RoActemra/Actemra]
7 A Study to Evaluate the Safety and Efficacy of MabThera (Rituximab) in Combination With Methotrexate (MTX) in Participants With Active Rheumatoid Arthritis Who Failed on Anti-Tumor Necrosis Factor Alpha Therapy Completed NCT00468546 Phase 3 MabThera/Rituxan;Methotrexate
8 Follicular Lymphoma IV/SC Rituximab Therapy (FLIRT) Recruiting NCT02303119 Phase 3 Rituximab IV;Rituximab SC
9 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
10 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
11 Subcutaneous Alemtuzumab (CAMPATH®, MabCampath®) in Relapsed/Refractory B-Cell Chronic Lymphocytic Leukemia Completed NCT00328198 Phase 2
12 Dose Finding Study of Namilumab in Combination With Methotrexate in Participants With Moderate to Severe Rheumatoid Arthritis (RA) Completed NCT02379091 Phase 2 Namilumab;Placebo;Methotrexate;Folic/folinic acid
13 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)
14 Phase II Open Label Trial to Determine Safety & Efficacy of Tisagenlecleucel in Pediatric Non-Hodgkin Lymphoma Patients Recruiting NCT03610724 Phase 2
15 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
16 Epigenetic Modulation of the immunE Response in GastrointEstinal Cancers (EMERGE) Recruiting NCT03812796 Phase 2 Domatinostat;Avelumab
17 BI-1206 and an Anti-CD20 Antibody in Patients With CD32b Positive B-cell Lymphoma or Leukaemia Recruiting NCT02933320 Phase 1, Phase 2
18 A Study to Determine Dose, Safety, and Efficacy of Durvalumab as Monotherapy and in Combination Therapy in Subjects With Lymphoma or Chronic Lymphocytic Leukemia Active, not recruiting NCT02733042 Phase 1, Phase 2 Durvalumab;Lenalidomide;Rituximab;Ibrutinib;Bendamustine
19 Study Evaluating the Efficacy and Safety of JCAR015 in Adult B-cell Acute Lymphoblastic Leukemia (B-ALL) Terminated NCT02535364 Phase 2
20 MK-2206, Paclitaxel and Trastuzumab in Treating Patients With HER2-overexpressing Solid Tumor Malignancies Completed NCT01235897 Phase 1 MK-2206;Paclitaxel;Trastuzumab
21 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
22 Pacritinib in Relapsed/Refractory Lymphoproliferative Disorders Not yet recruiting NCT03601819 Phase 1 Pacritinib
23 An Observational Study on RoActemra/Actemra (Tocilizumab) in Clinical Practice in Patients With Rheumatoid Arthritis (TRUST) Completed NCT01394276
24 A Retrospective, Observational Chart Review of Biologics in Monotherapy Versus the Combination Biologic Plus Methotrexate in Patients With Rheumatoid Arthritis Completed NCT01866150
25 A Non-Interventional Study of Rheumatoid Arthritis Patients Treated With RoActemra/Actemra (Tocilizumab) in Monotherapy Completed NCT01705730 tocilizumab
26 Observational Study of RoActemra/Actemra (Tocilizumab) in Patients With Rheumatoid Arthritis Completed NCT01579006 Tocilizumab
27 A Non-Interventional Study of RoActemra/Actemra in Patients With Moderate to Severe Rheumatoid Arthritis Completed NCT01672970
28 A Non-interventional Study of RoActemra/Actemra (Tocilizumab) in Patients With Rheumatoid Arthritis Completed NCT01562327 Tocilizumab
29 Cell Collection to Study Eye Diseases Recruiting NCT01432847
30 Inherited Retinal Degenerative Disease Registry Recruiting NCT02435940
31 A Study to Characterize Profile of Participant With Psoriatic Arthritis Depending on Whether Their Disease is Managed by a Dermatologist or by a Rheumatologist, and Starting Ustekinumab Recruiting NCT03336281 Ustekinumab
32 A Study on Assessment of STELARA and Tumor Necrosis Factor Alpha Inhibitor Therapies in Participants With Psoriatic Arthritis Recruiting NCT02627768 No Intervention
33 A Study in Participants With a Newly Confirmed Diagnosis of Spondyloarthritis (SpA) Who Are New to Conventional, Targeted and Biological DMARDs Recruiting NCT03131661
34 Stem Cell Models of Best Disease and Other 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:

42
Eye, Retina, B Cells, Lung

Publications for Best Vitelliform Macular Dystrophy

Articles related to Best Vitelliform Macular Dystrophy:

(show top 50) (show all 74)
# Title Authors Year
1
Best vitelliform macular dystrophy in a large Brazilian family. ( 30723549 )
2019
2
Chromatic pupilloperimetry for objective diagnosis of Best vitelliform macular dystrophy. ( 30880907 )
2019
3
Findings of Optical Coherence Tomography Angiography in Best Vitelliform Macular Dystrophy. ( 29656284 )
2018
4
Genetic variations in Bestrophina891 and associated clinical findings in two Chinese patients with juvenilea89onset and adulta89onset best vitelliform macular dystrophy. ( 29115605 )
2018
5
Association of Optic Nerve Head Drusen with Best Vitelliform Macular Dystrophy: A Case Series. ( 29643786 )
2018
6
Clinical and Mutation Analysis of Patients with Best Vitelliform Macular Dystrophy or Autosomal Recessive Bestrophinopathy in Chinese Population. ( 30498755 )
2018
7
Best Vitelliform Macular Dystrophy. ( 30578489 )
2018
8
Best Vitelliform Macular Dystrophy. ( 30578502 )
2018
9
Optical coherence tomography in Best vitelliform macular dystrophy. ( 28233888 )
2017
10
Screening of BEST1 Gene in a Chinese Cohort With Best Vitelliform Macular Dystrophy or Autosomal Recessive Bestrophinopathy. ( 28687848 )
2017
11
Retinal Vascular Impairment in Best Vitelliform Macular Dystrophy Assessed by Means of Optical Coherence Tomography Angiography. ( 29288639 )
2017
12
Optical Coherence Tomography Examination of the Retinal Pigment Epithelium in Best Vitelliform Macular Dystrophy. ( 28187978 )
2017
13
MICROPERIMETRY IN BEST VITELLIFORM MACULAR DYSTROPHY. ( 28301340 )
2017
14
Adult-Onset Vitelliform Macular Dystrophy caused by BEST1 p.Ile38Ser Mutation is a Mild Form of Best Vitelliform Macular Dystrophy. ( 28831140 )
2017
15
SPECTRAL DOMAIN OPTICAL COHERENCE TOMOGRAPHY FEATURES IN DIFFERENT STAGES OF BEST VITELLIFORM MACULAR DYSTROPHY. ( 28376040 )
2017
16
INTRARETINAL HYPERREFLECTIVE FOCI IN BEST VITELLIFORM MACULAR DYSTROPHY. ( 29065010 )
2017
17
Bestrophin 1 gene analysis and associated clinical findings in a Chinese patient with Best vitelliform macular dystrophy. ( 28791410 )
2017
18
PHOTORECEPTOR INNER SEGMENT MORPHOLOGY IN BEST VITELLIFORM MACULAR DYSTROPHY. ( 27467379 )
2016
19
Best Vitelliform Macular Dystrophy In Afghan Twins. ( 28718575 )
2016
20
Novel BEST1 Mutations and Special Clinical Features of Best Vitelliform Macular Dystrophy. ( 27078032 )
2016
21
Quantitative Fundus Autofluorescence in Best Vitelliform Macular Dystrophy: RPE Lipofuscin is not Increased in Non-Lesion Areas of Retina. ( 26427423 )
2016
22
Choroidal neovascularization secondary to Best vitelliform macular dystrophy detected by optical coherence tomography angiography. ( 27867022 )
2016
23
A NOVEL P.ASP304GLY MUTATION IN BEST1 GENE ASSOCIATED WITH ATYPICAL BEST VITELLIFORM MACULAR DYSTROPHY PHENOTYPE AND HIGH INTRAFAMILIAL VARIABILITY. ( 26807628 )
2016
24
Long-Term Results of Photodynamic Therapy for Choroidal Neovascularization in Pediatric Patients with Best Vitelliform Macular Dystrophy. ( 25675349 )
2015
25
Retinal structure in young patients aged 10A years or less with Best vitelliform macular dystrophy. ( 25940553 )
2015
26
Functional assessment of the fundus autofluorescence pattern in Best vitelliform macular dystrophy. ( 26490373 )
2015
27
Focal Choroidal Excavation in Best Vitelliform Macular Dystrophy: Case Report. ( 26155505 )
2015
28
RECURRENCE OF VITELLIFORM LESIONS ASSOCIATED WITH TEMPORARY VISION LOSS IN BEST VITELLIFORM MACULAR DYSTROPHY. ( 26418331 )
2015
29
Two novel mutations in the bestrophin-1 gene and associated clinical observations in patients with best vitelliform macular dystrophy. ( 25936525 )
2015
30
CHOROIDAL THICKNESS IN BEST VITELLIFORM MACULAR DYSTROPHY. ( 26447398 )
2015
31
Quantitative fundus autofluorescence and optical coherence tomography in best vitelliform macular dystrophy. ( 24526438 )
2014
32
Multimodal analysis of the progression of Best vitelliform macular dystrophy. ( 24791142 )
2014
33
Fundus Autofluorescence Patterns in Best Vitelliform Macular Dystrophy. ( 25068640 )
2014
34
Near-Infrared Fundus Autofluorescence in Subclinical Best Vitelliform Macular Dystrophy. ( 25174897 )
2014
35
Bilateral choroidal excavation in best vitelliform macular dystrophy. ( 24512759 )
2014
36
Dome-shaped macula associated with Best vitelliform macular dystrophy. ( 25384969 )
2014
37
Outer retinal structure in best vitelliform macular dystrophy. ( 23765342 )
2013
38
Improvement of visual acuity after transcorneal electrical stimulation in case of Best vitelliform macular dystrophy. ( 23604515 )
2013
39
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
40
Frequency, genotype, and clinical spectrum of best vitelliform macular dystrophy: data from a national center in Denmark. ( 22633354 )
2012
41
Three-dimensional distribution of the vitelliform lesion, photoreceptors, and retinal pigment epithelium in the macula of patients with best vitelliform macular dystrophy. ( 22084158 )
2012
42
Intravitreal bevacizumab for choroidal neovascularization secondary to Best vitelliform macular dystrophy in a 6-year-old child. ( 22139615 )
2012
43
A novel compound heterozygous mutation in the BEST1 gene causes autosomal recessive Best vitelliform macular dystrophy. ( 22422030 )
2012
44
The spectrum of subclinical Best vitelliform macular dystrophy in subjects with mutations in BEST1 gene. ( 21436265 )
2011
45
Phenotypic variability in a French family with a novel mutation in the BEST1 gene causing multifocal best vitelliform macular dystrophy. ( 21293734 )
2011
46
Preferential hyperacuity perimeter in best vitelliform macular dystrophy. ( 21242858 )
2011
47
Autosomal recessive best vitelliform macular dystrophy: report of a family and management of early-onset neovascular complications. ( 21320969 )
2011
48
Clinicopathologic findings in Best vitelliform macular dystrophy. ( 21136072 )
2011
49
Anterior segment abnormalities and angle-closure glaucoma in a family with a mutation in the BEST1 gene and Best vitelliform macular dystrophy. ( 21473666 )
2011
50
Multimodal fundus imaging in Best vitelliform macular dystrophy. ( 20414784 )
2010

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

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.94 FADS1 FADS2
2
Show member pathways
10.63 FADS1 FADS2

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 DDB1 FEN1

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 FADS1 FADS2
2 linoleic acid metabolic process GO:0043651 9.16 FADS1 FADS2
3 unsaturated fatty acid biosynthetic process GO:0006636 8.96 FADS1 FADS2
4 alpha-linolenic acid metabolic process GO:0036109 8.62 FADS1 FADS2

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 DDB1 FEN1

Sources for Best Vitelliform Macular Dystrophy

3 CDC
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10 dbSNP
11 DGIdb
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35 ICD10 via Orphanet
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45 MeSH
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70 SNOMED-CT via HPO
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75 UMLS via Orphanet
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