MCID: BST007
MIFTS: 41

Best Vitelliform Macular Dystrophy

Categories: Rare diseases

Aliases & Classifications for Best Vitelliform Macular Dystrophy

MalaCards integrated aliases for Best Vitelliform Macular Dystrophy:

Name: Best Vitelliform Macular Dystrophy 24 53
Juvenile-Onset Vitelliform Macular Dystrophy 53 73
Vitelliform Macular Dystrophy Type 2 24 53
Best Macular Dystrophy 24 53
Macular Degeneration, Polymorphic Vitelline 53
Polymorphic Vitelline Macular Degeneration 53
Early-Onset Vitelliform Macular Dystrophy 53
Vitelliform Macular Dystrophy 73
Best Disease 53
Vmd2 53
Bvmd 53

Characteristics:

GeneReviews:

24
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 : 53 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 macular dystrophy, vitelliform, 2. 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 rituximab and Methotrexate have been mentioned in the context of this disorder. Affiliated tissues include eye, retina and b cells, and related phenotypes are visual impairment and visual field defect

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 16)
# Related Disease Score Top Affiliating Genes
1 vitelliform macular dystrophy 30.8 BEST1 FEN1 ROM1
2 macular dystrophy, vitelliform, 2 12.1
3 vitreoretinochoroidopathy dominant 11.3
4 choroiditis 10.5
5 retinitis 10.5
6 aging 10.2
7 peripheral retinal degeneration 10.1 BEST1 ROM1
8 macular dystrophy, dominant cystoid 10.1
9 macular degeneration, age-related, 1 10.1
10 macular dystrophy, vitelliform, 3 10.1
11 bestrophinopathy, autosomal recessive 10.1
12 bestrophinopathy 10.1
13 macular retinal edema 10.1
14 retinal disease 10.0 BEST1 ROM1
15 xeroderma pigmentosum, variant type 9.7 DDB1 FEN1
16 retinal degeneration 9.7 BEST1 ROM1

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

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 68)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
rituximab Approved Phase 4,Phase 3,Phase 1,Phase 2 174722-31-7 10201696
2
Methotrexate Approved Phase 4,Phase 3,Phase 2 1959-05-2, 59-05-2 126941
3
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
4
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
5
leucovorin Approved, Nutraceutical Phase 4,Phase 3,Phase 2 58-05-9 143 6006
6
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 3,Phase 2 59-30-3 6037
7 Prednisolone acetate Phase 4
8 glucocorticoids Phase 4
9 Methylprednisolone acetate Phase 4
10 Methylprednisolone Hemisuccinate Phase 4
11 Folic Acid Antagonists Phase 4,Phase 3,Phase 2
12 Gastrointestinal Agents Phase 4
13 Neuroprotective Agents Phase 4
14 Hormone Antagonists Phase 4
15 Dermatologic Agents Phase 4,Phase 3,Phase 2
16 Nucleic Acid Synthesis Inhibitors Phase 4,Phase 3,Phase 2
17 Hormones Phase 4
18 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4
19 Peripheral Nervous System Agents Phase 4
20 Vitamin B Complex Phase 4,Phase 3,Phase 2
21 Immunosuppressive Agents Phase 4,Phase 3,Phase 2,Phase 1
22 Prednisolone hemisuccinate Phase 4
23 Prednisolone phosphate Phase 4
24 Antiemetics Phase 4
25 Protective Agents Phase 4,Phase 2
26 Anti-Inflammatory Agents Phase 4
27 Antirheumatic Agents Phase 4,Phase 3,Phase 2,Phase 1
28 Antimetabolites Phase 4,Phase 3,Phase 2
29 Autonomic Agents Phase 4
30 Antimetabolites, Antineoplastic Phase 4,Phase 3,Phase 2
31 Antineoplastic Agents, Hormonal Phase 4
32 Folate Nutraceutical Phase 4,Phase 3,Phase 2
33 Vitamin B9 Nutraceutical Phase 4,Phase 3,Phase 2
34
Benzocaine Approved, Investigational Phase 3 1994-09-7, 94-09-7 2337
35
Azacitidine Approved, Investigational Phase 3 320-67-2 9444
36 tannic acid Approved, Nutraceutical Phase 3
37
Gemcitabine Approved Phase 2 95058-81-4 60750
38
alemtuzumab Approved, Investigational Phase 2 216503-57-0
39
Ranibizumab Approved Phase 1, Phase 2 347396-82-1 459903
40
Carboplatin Approved Phase 2 41575-94-4 10339178 498142 38904
41
Paclitaxel Approved, Vet_approved Phase 2,Phase 1 33069-62-4 36314
42
Docetaxel Approved, Investigational Phase 2 114977-28-5 148124
43
Vinorelbine Approved, Investigational Phase 2 71486-22-1 60780 44424639
44
Levoleucovorin Approved, Investigational Phase 2 68538-85-2
45
Oxaliplatin Approved, Investigational Phase 2 61825-94-3 5310940 9887054 43805 6857599
46
Fluorouracil Approved Phase 2 51-21-8 3385
47
Lenalidomide Approved Phase 1, Phase 2 191732-72-6 216326
48 Micronutrients Phase 2
49 Albumin-Bound Paclitaxel Phase 2,Phase 1
50 Hematinics Phase 2

Interventional clinical trials:

(show all 29)
# 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 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
12 Subcutaneous Alemtuzumab (CAMPATH®, MabCampath®) in Relapsed/Refractory B-Cell Chronic Lymphocytic Leukemia Completed NCT00328198 Phase 2
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 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
15 BI-1206 and an Anti-CD20 Antibody in Patients With CD32b Positive B-cell Lymphoma or Leukaemia Recruiting NCT02933320 Phase 1, Phase 2
16 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
17 MK-2206, Paclitaxel and Trastuzumab in Treating Patients With HER2-overexpressing Solid Tumor Malignancies Completed NCT01235897 Phase 1 MK-2206;Paclitaxel;Trastuzumab
18 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
19 An Observational Study on RoActemra/Actemra (Tocilizumab) in Clinical Practice in Patients With Rheumatoid Arthritis (TRUST) Completed NCT01394276
20 A Retrospective, Observational Chart Review of Biologics in Monotherapy Versus the Combination Biologic Plus Methotrexate in Patients With Rheumatoid Arthritis Completed NCT01866150
21 Observational Study of RoActemra/Actemra (Tocilizumab) in Patients With Rheumatoid Arthritis Completed NCT01579006 Tocilizumab
22 A Non-Interventional Study of RoActemra/Actemra in Patients With Moderate to Severe Rheumatoid Arthritis Completed NCT01672970
23 A Non-interventional Study of RoActemra/Actemra (Tocilizumab) in Patients With Rheumatoid Arthritis Completed NCT01562327 Tocilizumab
24 Cell Collection to Study Eye Diseases Recruiting NCT01432847
25 Inherited Retinal Degenerative Disease Registry Recruiting NCT02435940
26 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
27 A Study on Assessment of STELARA and Tumor Necrosis Factor Alpha Inhibitor Therapies in Participants With Psoriatic Arthritis Recruiting NCT02627768 No Intervention
28 A Study in Participants With a Newly Confirmed Diagnosis of Spondyloarthritis (SpA) Who Are New to Conventional, Targeted and Biological DMARDs Recruiting NCT03131661
29 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:

41
Eye, Retina, B Cells, Lung

Publications for Best Vitelliform Macular Dystrophy

Articles related to Best Vitelliform Macular Dystrophy:

(show top 50) (show all 69)
# Title Authors Year
1
Findings of Optical Coherence Tomography Angiography in Best Vitelliform Macular Dystrophy. ( 29656284 )
2018
2
Genetic variations in Bestrophina891 and associated clinical findings in two Chinese patients with juvenilea89onset and adulta89onset best vitelliform macular dystrophy. ( 29115605 )
2018
3
Association of Optic Nerve Head Drusen with Best Vitelliform Macular Dystrophy: A Case Series. ( 29643786 )
2018
4
Optical coherence tomography in Best vitelliform macular dystrophy. ( 28233888 )
2017
5
Screening of BEST1 Gene in a Chinese Cohort With Best Vitelliform Macular Dystrophy or Autosomal Recessive Bestrophinopathy. ( 28687848 )
2017
6
Retinal Vascular Impairment in Best Vitelliform Macular Dystrophy Assessed by Means of Optical Coherence Tomography Angiography. ( 29288639 )
2017
7
Optical Coherence Tomography Examination of the Retinal Pigment Epithelium in Best Vitelliform Macular Dystrophy. ( 28187978 )
2017
8
MICROPERIMETRY IN BEST VITELLIFORM MACULAR DYSTROPHY. ( 28301340 )
2017
9
Adult-Onset Vitelliform Macular Dystrophy caused by BEST1 p.Ile38Ser Mutation is a Mild Form of Best Vitelliform Macular Dystrophy. ( 28831140 )
2017
10
SPECTRAL DOMAIN OPTICAL COHERENCE TOMOGRAPHY FEATURES IN DIFFERENT STAGES OF BEST VITELLIFORM MACULAR DYSTROPHY. ( 28376040 )
2017
11
INTRARETINAL HYPERREFLECTIVE FOCI IN BEST VITELLIFORM MACULAR DYSTROPHY. ( 29065010 )
2017
12
Bestrophin 1 gene analysis and associated clinical findings in a Chinese patient with Best vitelliform macular dystrophy. ( 28791410 )
2017
13
PHOTORECEPTOR INNER SEGMENT MORPHOLOGY IN BEST VITELLIFORM MACULAR DYSTROPHY. ( 27467379 )
2016
14
Best Vitelliform Macular Dystrophy In Afghan Twins. ( 28718575 )
2016
15
Novel BEST1 Mutations and Special Clinical Features of Best Vitelliform Macular Dystrophy. ( 27078032 )
2016
16
Quantitative Fundus Autofluorescence in Best Vitelliform Macular Dystrophy: RPE Lipofuscin is not Increased in Non-Lesion Areas of Retina. ( 26427423 )
2016
17
Choroidal neovascularization secondary to Best vitelliform macular dystrophy detected by optical coherence tomography angiography. ( 27867022 )
2016
18
A NOVEL P.ASP304GLY MUTATION IN BEST1 GENE ASSOCIATED WITH ATYPICAL BEST VITELLIFORM MACULAR DYSTROPHY PHENOTYPE AND HIGH INTRAFAMILIAL VARIABILITY. ( 26807628 )
2016
19
Long-Term Results of Photodynamic Therapy for Choroidal Neovascularization in Pediatric Patients with Best Vitelliform Macular Dystrophy. ( 25675349 )
2015
20
Retinal structure in young patients aged 10A years or less with Best vitelliform macular dystrophy. ( 25940553 )
2015
21
Functional assessment of the fundus autofluorescence pattern in Best vitelliform macular dystrophy. ( 26490373 )
2015
22
Focal Choroidal Excavation in Best Vitelliform Macular Dystrophy: Case Report. ( 26155505 )
2015
23
RECURRENCE OF VITELLIFORM LESIONS ASSOCIATED WITH TEMPORARY VISION LOSS IN BEST VITELLIFORM MACULAR DYSTROPHY. ( 26418331 )
2015
24
Two novel mutations in the bestrophin-1 gene and associated clinical observations in patients with best vitelliform macular dystrophy. ( 25936525 )
2015
25
CHOROIDAL THICKNESS IN BEST VITELLIFORM MACULAR DYSTROPHY. ( 26447398 )
2015
26
Quantitative fundus autofluorescence and optical coherence tomography in best vitelliform macular dystrophy. ( 24526438 )
2014
27
Multimodal analysis of the progression of Best vitelliform macular dystrophy. ( 24791142 )
2014
28
Fundus Autofluorescence Patterns in Best Vitelliform Macular Dystrophy. ( 25068640 )
2014
29
Near-Infrared Fundus Autofluorescence in Subclinical Best Vitelliform Macular Dystrophy. ( 25174897 )
2014
30
Bilateral choroidal excavation in best vitelliform macular dystrophy. ( 24512759 )
2014
31
Dome-shaped macula associated with Best vitelliform macular dystrophy. ( 25384969 )
2014
32
Outer retinal structure in best vitelliform macular dystrophy. ( 23765342 )
2013
33
Improvement of visual acuity after transcorneal electrical stimulation in case of Best vitelliform macular dystrophy. ( 23604515 )
2013
34
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
35
Frequency, genotype, and clinical spectrum of best vitelliform macular dystrophy: data from a national center in Denmark. ( 22633354 )
2012
36
Three-dimensional distribution of the vitelliform lesion, photoreceptors, and retinal pigment epithelium in the macula of patients with best vitelliform macular dystrophy. ( 22084158 )
2012
37
Intravitreal bevacizumab for choroidal neovascularization secondary to Best vitelliform macular dystrophy in a 6-year-old child. ( 22139615 )
2012
38
A novel compound heterozygous mutation in the BEST1 gene causes autosomal recessive Best vitelliform macular dystrophy. ( 22422030 )
2012
39
The spectrum of subclinical Best vitelliform macular dystrophy in subjects with mutations in BEST1 gene. ( 21436265 )
2011
40
Phenotypic variability in a French family with a novel mutation in the BEST1 gene causing multifocal best vitelliform macular dystrophy. ( 21293734 )
2011
41
Preferential hyperacuity perimeter in best vitelliform macular dystrophy. ( 21242858 )
2011
42
Autosomal recessive best vitelliform macular dystrophy: report of a family and management of early-onset neovascular complications. ( 21320969 )
2011
43
Clinicopathologic findings in Best vitelliform macular dystrophy. ( 21136072 )
2011
44
Anterior segment abnormalities and angle-closure glaucoma in a family with a mutation in the BEST1 gene and Best vitelliform macular dystrophy. ( 21473666 )
2011
45
Multimodal fundus imaging in Best vitelliform macular dystrophy. ( 20414784 )
2010
46
Effect of docosahexaenoic acid supplementation on the macular function of patients with Best vitelliform macular dystrophy: randomized clinical trial. ( 20847757 )
2010
47
Novel and homozygous BEST1 mutations in Chinese patients with Best vitelliform macular dystrophy. ( 20057343 )
2010
48
Clinical and molecular genetic analysis of Best vitelliform macular dystrophy. ( 19357557 )
2009
49
Functional and clinical data of Best vitelliform macular dystrophy patients with mutations in the BEST1 gene. ( 20057903 )
2009
50
Exudative age-related macular degeneration or Best vitelliform macular dystrophy?--A case report. ( 18655458 )
2008

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
11.12 FADS1 FADS2
2
Show member pathways
10.68 FADS1 FADS2
3
Show member pathways
10.27 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 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:

# 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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....