MCID: VTL001
MIFTS: 38

Vitelliform Macular Dystrophy malady

Genetic diseases, Eye diseases, Rare diseases categories

Aliases & Classifications for Vitelliform Macular Dystrophy

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Aliases & Descriptions for Vitelliform Macular Dystrophy:

Name: Vitelliform Macular Dystrophy 10 23 12 65
Juvenile-Onset Vitelliform Macular Dystrophy 10 65
Best Macular Dystrophy 10 11
 
Vitelliform Dystrophy 23 24
Macular Dystrophy, Vitelliform 47
Best Disease 10


Classifications:



External Ids:

Disease Ontology10 DOID:0050661

Summaries for Vitelliform Macular Dystrophy

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Genetics Home Reference:23 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 macular dystrophy, vitelliform, 3 and retinal detachment. An important gene associated with Vitelliform Macular Dystrophy is BEST1 (Bestrophin 1), and among its related pathways is Ion channel transport. Affiliated tissues include retina, eye and smooth muscle.

Disease Ontology:10 A macular degeneration that can cause progressive vision loss, it is characterized by the disruption of cells in a small area near the center of the retina, the macula.

Related Diseases for Vitelliform Macular Dystrophy

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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 top 50)    (show all 62)
idRelated DiseaseScoreTop Affiliating Genes
1macular dystrophy, vitelliform, 331.0BEST1, IMPG1, IMPG2, PRPH2
2retinal detachment29.9BEST1, PRPH2, ROM1
3macular degeneration, age-related, 129.1BEST1, IMPG1, IMPG2, PRPH2
4best vitelliform macular dystrophy11.2
5choroiditis10.9
6macular dystrophy, vitelliform, 210.7
7retinitis10.7
8macular dystrophy, vitelliform, 510.6
9macular dystrophy, vitelliform, 410.6
10prph2-related adult-onset vitelliform macular dystrophy10.6
11macular holes10.5
12kearns-sayre syndrome10.3
13central serous chorioretinopathy10.3
14macular dystrophy, atypical vitelliform10.3
15bipolar disorder10.0BEST1, BEST2, PRPH2
16retinal disease10.0
17retinitis pigmentosa 7 and digenic9.9PRPH2, ROM1
18multifocal pattern dystrophy simulating fundus flavimaculatus9.9PRPH2, ROM1
19cone-rod dystrophy 109.8
20macular degeneration, age-related, 139.8
21retinitis pigmentosa 109.8
22retinitis pigmentosa 19.8
23macular degeneration, age-related, 109.8
24macular degeneration, age-related 59.8
25bestrophinopathy, autosomal recessive9.8
26cone-rod dystrophy 139.8
27retinitis pigmentosa 139.8
28cone-rod dystrophy 59.8
29cone-rod dystrophy9.8
30bestrophinopathy9.8
31retinitis pigmentosa9.8
32skin disease9.8
33hereditary retinal dystrophy9.8
34coats disease9.8
35spiradenoma9.8
36autosomal dominant disease9.8
37autosomal genetic disease9.8
38autosomal recessive disease9.8
39eye degenerative disease9.8
40eye disease9.8
41fundus dystrophy9.8
42globe disease9.8
43retinal degeneration9.8
44uveitis9.8
45best1 retinopathy9.8
46cone-rod dystrophy 19.8
47vitreoretinochoroidopathy dominant9.8
48endotheliitis9.8
49retinitis pigmentosa autosomal recessive9.8
50peripheral vertigo9.8PRPH2, ROM1

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



Diseases related to vitelliform macular dystrophy

Symptoms for Vitelliform Macular Dystrophy

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Drugs & Therapeutics for Vitelliform Macular Dystrophy

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

(show all 7)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
alemtuzumabapproved, investigationalPhase 2293216503-57-0
Synonyms:
Campath
 
Lemtrada
Mabcampath
alemtuzumab
2
CarboplatinapprovedPhase 2181241575-94-410339178, 498142, 38904, 38904, 498142
Synonyms:
(SP-4-2)-diammine[cyclobutane-1,1-dicarboxylato(2-)-kappa(2)O,O']platinum
/h1-3H2,(H,7,8)(H,9,10)
/q
1,1-Cyclobutanedicarboxylate diammine platinum (II)
1,1-Cyclobutanedicarboxylate diammine platinum(II)
2*-1
2*1H2
41575-94-4
70903-55-8
AC-1457
AC1L8I6U
Ambap41575-94-4
BSPBio_003145
C 2538
C2043
C2538_SIGMA
C6H10N2O4Pt
CBDCA
CCRIS 3404
CHEBI:31355
CHEMBL1351
CHEMBL288376
CID10339178
CID2567
CID38904
CID426756
CID498142
CID5352133
CID6398587
CID6603770
Carbopaltin
Carboplatin
Carboplatin (JAN/USP/INN)
Carboplatin (USAN)
Carboplatin [USAN:INN:BAN:JAN]
Carboplatine
Carboplatine [French]
Carboplatino
Carboplatino [Spanish]
Carboplatinum
Carboplatinum [Latin]
Cbdca
Cyclobutane-1,1-dicarboxylate
D01363
DB00958
Diammine(1,1-cyclobutanedicarboxylato)platinum (II)
Diammine(cyclobutane-1,1-dicarboxylato(2-)-O,O')platinum
Diammine-1,1-cyclobutane dicarboxylate platinum II
DivK1c_000892
EINECS 255-446-0
EU-0100230
Ercar
HMS1921J16
HMS2090M05
HMS2092B22
HMS502M14
HSDB 6957
I14-2390
IDI1_000892
IUPAC: Azane
InChI=1/C6H8O4.2H2N.Pt/c7-4(8)6(5(9)10)2-1-3-6
 
JM 8
JM-8
KBio1_000892
KBio2_002009
KBio2_004577
KBio2_007145
KBio3_002645
KBioGR_000713
KBioSS_002009
LS-117689
Lopac-C-2538
Lopac0_000230
MolPort-003-665-501
MolPort-003-845-609
NCGC00015223-01
NCGC00093695-01
NCGC00094961-01
NCGC00094961-02
NCGC00094961-03
NCGC00162099-01
NCGC00162099-02
NCGC00167800-01
NCGC00178242-01
NINDS_000892
NSC 201345
NSC 241240
NSC-241240
NSC201345
NSC241240
Paraplatin
Paraplatin (TN)
Paraplatin, Carboplatin
Paraplatin-AQ
Platinum(+2) Cation
Platinum(II), (1, 1-cyclobutanedicar
Platinum, diammine(1,1-cyclobutanedicarboxylato(2-)-O,O')-, (SP-4-2)
Platinum, {diammine[1,1-cyclobut
S1215_Selleck
SPBio_000716
SPECTRUM1502106
Spectrum2_000898
Spectrum3_001503
Spectrum4_000337
Spectrum5_001094
Spectrum_001529
UNII-BG3F62OND5
azanide
carboplatin
cis -Diammine[1,1-cyclobutane-dicarboxylato] platinum
cis-(1,1-Cyclobutanedicarboxylato)diammineplatinum(II)
cis-(1,1-Cyclobutanedicarboxylato)diammineplatinum(ii)
cis-Diamine(1,1-cyclobutanedicarboxylato)platinum(II)
cis-Diamine[1,1-cyclobutanedicarboxylato]platinum(II)
cis-Diammine(1,1-cyclobutanedicarboxylato) platinum
cis-Diammine(1,1-cyclobutanedicarboxylato)platinum
cis-Diammine(1,1-cyclobutanedicarboxylato)platinum(II)
cis-Diammine(cyclobutanedicarboxylato)platinum II
cyclobutane-1,1-dicarboxylic acid
diammine[cyclobutane-1,1-dicarboxylato(2-)-k2O1,O1]platinum
nchembio.573-comp10
nchembio773-comp2
nchembio873-comp3
platinum(2+)
3
Vinorelbineapproved, investigationalPhase 233971486-22-160780, 44424639
Synonyms:
5'-Noranhydrovinblastine
71486-22-1
AC1L1KVK
AC1L1TWQ
AC1L75Q4
ANX-530
Ambap71486-22-1
BIDD:PXR0186
C45H54N4O8
CHEBI:480999
CHEMBL607994
CID355119
CID5311497
CID5672
CID60780
CID6426842
D08680
DB00361
Eunades
Exelbine
HMS2090E13
HSDB 7665
I06-0084
I06-0085
KW 2307
KW 2307 base
KW-2307
 
LS-97533
MolPort-006-822-661
MolPort-006-823-869
NCGC00165966-02
NVB
Navelbine
Navelbine (TN)
Navelbine Base
Navelbine base
Nor-5'-anhydrovinblastine
SDP-012
UNII-Q6C979R91Y
Vinorelbin
Vinorelbina
Vinorelbina [Spanish]
Vinorelbine
Vinorelbine (INN)
Vinorelbine Bitartrate
Vinorelbine Ditartarate
Vinorelbine Ditartrate
Vinorelbine Tartrate
Vinorelbine [INN:BAN]
Vinorelbine ditartrate
Vinorelbine tartrate
Vinorelbinum
Vinorelbinum [Latin]
methyl (2b,3b,4b,5a,12b,19a)-4-(acetyloxy)-15-[(6R,8S)-4-ethyl-8-(methoxycarbonyl)-1,3,6,7,8,9-hexahydro-2,6-methanoazecino[4,3-b]indol-8-yl]-3-hydroxy-16-methoxy-1-methyl-6,7-didehydroaspidospermidine-3-carboxylate
methyl (2beta,3beta,4beta,5alpha,12beta,19alpha)-4-acetoxy-15-[(6R,8S)-4-ethyl-8-(methoxycarbonyl)-1,3,6,7,8,9-hexahydro-2,6-methanoazecino[4,3-b]indol-8-yl]-3-hydroxy-16-methoxy-1-methyl-6,7-didehydroaspidospermidine-3-carboxylate
vinorelbine
4
GemcitabineapprovedPhase 2180095058-81-460750
Synonyms:
103882-84-4
122111-03-9
2',2'-DiF-dC
2',2'-Difluoro-2'-deoxycytidine
2',2'-Difluorodeoxycytidine
2'-Deoxy-.beta.-D-2',2'-difluorocytidine
2'-Deoxy-2',2'-difluorocytidine
4-Amino-1-[(2R,4R,5R)-3,3-difluoro-4-hydroxy-5-(hydroxymethyl)oxolan-2-yl]pyrimidin-2-one
4-Amino-1-[3,3-difluoro-4-hydroxy-5-(hydroxymethyl) tetrahydrofuran-2-yl]-1H-pyrimidin-2-one
4-amino-1-((2R,4R,5R)-3,3-Difluoro-4-hydroxy-5-(hydroxymethyl)-tetrahydrofuran-2-yl)pyrimidin-2(1H)-one
4-amino-1-((2R,4R,5R)-3,3-difluoro-4-hydroxy-5-(hydroxymethyl)-tetrahydrofuran-2-yl)pyrimidin-2(1H)-one
95058-81-4
AB1004842
AC1L1TUQ
C07650
CCRIS 8984
CHEBI:175901
CHEMBL888
CID60750
Cytidine, 2'-deoxy-2',2'-difluoro-2'-Deoxy-.beta.-D-2',2'-difluorocytidine
D02368
DB00441
DDFC
DFDC
DFdC
DFdCyd
Folfugem
GEO
Gamcitabine
GemLip
Gemcel
 
Gemcin
Gemcitabin
Gemcitabina
Gemcitabina [INN-Spanish]
Gemcitabine
Gemcitabine (USAN/INN)
Gemcitabine HCl
Gemcitabine Hydrochloride
Gemcitabine hydrochloride
Gemcitabine stereoisomer
Gemcitabinum
Gemcitabinum [INN-Latin]
Gemtro
Gemzar
Gemzar (hydrochloride)
HMS2089P10
HSDB 7567
Inno-D07001
LS-59139
LY 188011
LY-188011
LY188011
NCGC00168784-01
NChemBio.2007.10-comp25
NSC 613327
NSC613327
TL8005979
UNII-B76N6SBZ8R
ZINC18279854
Zefei
gemcitabine
nchembio.573-comp7
nchembio.90-comp2
5
Docetaxelapproved, investigational, Approved May 1996Phase 21792114977-28-5148124, 9877265
Synonyms:
(2aR,4S,4aS,6R,9S,11S,12S,12aR,12bS)-12b-(acetyloxy)-12-(benzoyloxy)-2a,3,4,4a,5,6,9,10,11,12,12a,12b-dodecahydro-4,6,11-trihydroxy-4a,8,13,13-tetramethyl-5-oxo-7,11-methano-1H-cyclodeca[3,4]benz[1,2-b]oxet-9-yl (aR,bS)-b-[[(1,1-dimethylethoxy)carbonyl]amino]-a-hydroxybenzenepropanoate
(2alpha,5beta,7beta,10beta,13alpha)-4-(acetyloxy)-13-({(2R,3S)-3-[(tert-butoxycarbonyl)amino]-2-hydroxy-3-phenylpropanoyl}oxy)-1,7,10-trihydroxy-9-oxo-5,20-epoxytax-11-en-2-yl benzoate
01885_FLUKA
114977-28-5
4-(Acetyloxy)-13alpha-({(2R,3S)-3-[(tert-butoxycarbonyl)amino]-2-hydroxy-3-phenylpropanoyl}oxy)-1,7beta,10beta-trihydroxy-9-oxo-5beta,20-epoxytax-11-en-2alpha-yl benzoate
4-(acetyloxy)-13alpha-({(2R,3S)-3-[(tert-butoxycarbonyl)amino]-2-hydroxy-3-phenylpropanoyl}oxy)-1,7beta,10beta-trihydroxy-9-oxo-5beta,20-epoxytax-11-en-2alpha-yl benzoate
AC-383
AC1L3WHJ
ANX-514
BIND-014
C11231
CHEBI:4672
CHEMBL92
CID148124
D07866
DB01248
Docefrez
Docetaxel
Docetaxel (INN)
Docetaxel anhydrous
Docetaxel, Trihydrate
EmDOC
 
HMS2089K08
InChI=1/C43H53NO14/c1-22-26(55-37(51)32(48)30(24-15-11-9-12-16-24)44-38(52)58-39(3,4)5)20-43(53)35(56-36(50)25-17-13-10-14-18-25)33-41(8,34(49)31(47)29(22)40(43,6)7)27(46)19-28-42(33,21-54-28)57-23(2)45/h9-18,26-28,30-33,35,46-48,53H,19-21H2,1-8H3,(H,44,5
MolPort-003-847-005
N-Debenzoyl-N-(tert-butoxycarbonyl)-10-deacetylpaclitaxel
N-Debenzoyl-N-(tert-butoxycarbonyl)-10-deacetyltaxol
N-debenzoyl-N-(tert-butoxycarbonyl)-10-deacetylpaclitaxel
N-debenzoyl-N-(tert-butoxycarbonyl)-10-deacetyltaxol
N-debenzoyl-N-Boc-10-deacetyl taxol
NSC-628503
PSMA-targeted docetaxel nanoparticle
RP-56976
SDP-014
TXL
Taxotere
Taxotere (TN)
Taxotere(R)
XRP-6976L
docetaxel
docetaxel 114977-28-5
nchembio.188-comp8
nchembio.2007.34-comp7
nchembio.573-comp11
nchembio853-comp8
6
Trastuzumabapproved, investigationalPhase 1688180288-69-19903
Synonyms:
180288-69-1
Anti HER2
Anti-erbB2 Monoclonal Antibody
D03257
HER2 Monoclonal Antibody
Herceptin
 
Herceptin (TN)
Ig gamma-1 chain C region
Trastuzumab
Trastuzumab (INN)
Trastuzumab (genetical recombination)
Trastuzumab (genetical recombination) (JAN)
trastuzumab
7
PaclitaxelapprovedPhase 1250533069-62-436314
Synonyms:
(2AR-(2aalpha,4beta,4abeta,6beta,9alpha(alpha r*,betas*),11alpha,12alpha,12balpha))-beta-(benzoylamino)-alpha-hydroxybenzenepropanoic acid 6,12b-bis(acetyloxy)-12-(benzoyloxy)-2a,3,4,4a,5,6,9,10,11,12,12a,12b-dodecahydro-4,11-dihydroxy-4a,8,13,13-tetramethyl-5-oxo-7,11-methano-1H-cyclodeca(3,4)benz(1,2-b)oxet-9-yl ester
12-benzoate, 9-ester with (2R,3S)-N-benzoyl-3-phenylisoserine
157069-30-2
33069-62-4
5beta,20-Epoxy-1,2-alpha,4,7beta,10beta,13alpha-hexahydroxytax-11-en-9-one 4,10-diacetate 2-benzoate 13-ester with (2R,3S)-N-benzoyl-3-phenylisoserine
7,11-Methano-1H-cyclodeca[3,4]benz[1,2-b]oxete, benzenepropanoic acid deriv.
7,11-Methano-5H-cyclodeca[3,4]benz[1,2-b]oxete,benzenepropanoic acid deriv.
7-Epi-Paclitaxel
7-Epi-Taxol
7-Epipaclitaxel
7-Epitaxol
7-epi-Paclitaxel
7-epi-Taxol
AB00513812
ABI 007
ABI-007
ABI007
AC-675
AC1L1IOG
AC1L1VJI
AC1L9AVF
ACon1_002231
ANX-513
Abraxane
Abraxane (TN)
Abraxane I.V. Suspension
Abraxis BioScience brand of albumin-bound paclitaxel
Ambotz33069-62-4
Anzatax
Asotax
BIDD:PXR0046
BMS 181339-01
BMS-181339
BMS-181339-01
BPBio1_000320
BRD-A23723433-001-01-2
BRD-A28746609-001-04-0
BRD-K62008436-001-03-1
BSPBio_000290
BSPBio_001152
BSPBio_002614
Bio-0076
Bio1_000362
Bio1_000851
Bio1_001340
Bio2_000416
Bio2_000896
Bristaxol
C07394
C466458
C47H51NO14
CCRIS 8143
CHEBI:103439
CHEBI:45863
CHEMBL100910
CHEMBL418410
CHEMBL48
CID36314
CID441276
CID4666
CID6713921
CID6915727
CPD-8718
Capxol
D00491
DB01229
DHP-107
DHP-208
DRG-0190
DTS-301
DivK1c_000441
EU-0101201
Ebetaxel
EmPAC
Epitaxol
Genaxol
Genetaxyl
Genexol
Genexol-PM
HMS1362J13
HMS1568O12
HMS1792J13
HMS1922K08
HMS1990J13
HMS2090D07
HMS2093K15
HMS501G03
HSDB 6839
I06-0014
IDI1_000441
IDI1_002171
Intaxel
KBio1_000441
KBio2_000492
KBio2_002016
KBio2_002509
KBio2_003060
KBio2_004584
KBio2_005077
KBio2_005628
KBio2_007152
KBio2_007645
KBio3_000903
KBio3_000904
KBio3_001834
KBio3_002987
KBioGR_000492
KBioGR_001893
 
KBioGR_002509
KBioSS_000492
KBioSS_002016
KBioSS_002517
LMPR0104390001
LS-31070
LipoPac
Lopac0_001201
MBT 0206
MEGxp0_001940
MLS000863266
MLS001077297
MLS002154218
MLS002172439
MLS002695976
MPI-5018
Micellar Paclitaxel
Mitotax
MolPort-001-742-627
MolPort-003-665-783
MolPort-003-932-365
NCGC00024995-02
NCGC00024995-03
NCGC00024995-04
NCGC00024995-05
NCGC00024995-06
NCGC00024995-07
NCGC00164367-01
NCGC00164367-02
NCGC00164367-03
NCI60_000601
NINDS_000441
NK 105
NP-010981
NSC 125973
NSC-125973
NSC125973
NSC358882
Nanotaxel
Neuro_000060
Nova-12005
OAS-PAC-100
OncoGel
Onxal
Onxol
Onxol, Taxol, Nov-Onxol, Paclitaxel
P1632
Paclical
Pacligel
Paclitaxel
Paclitaxel (JAN/USP)
Paclitaxel (JAN/USP/INN)
Paclitaxel (Taxol)
Paclitaxel [USAN:INN:BAN]
Paxceed
Paxene
Paxoral
Plaxicel
Praxel
Prestwick0_000155
Prestwick1_000155
Prestwick2_000155
Prestwick3_000155
Probes2_000350
QW 8184
S-8184 Paclitaxel Injectable Emulsion
S1150_Selleck
SDCCGMLS-0066823.P001
SDP-013
SMP1_000228
SMR000394086
SMR000857385
SPBio_000943
SPBio_002229
SPECTRUM1503908
ST50306996
Spectrum2_000872
Spectrum3_001057
Spectrum4_001197
Spectrum5_001491
Spectrum_001536
T 7402
T1912_SIGMA
T7191_SIGMA
T7402_SIGMA
TA1
TAXOL (TN)
TAXOL, 10-EPI,
TXL
TaxAlbin
Taxol
Taxol A
Taxol Konzentrat
Taxol.RTM. (Registered Trademark)
UNII-P88XT4IS4D
UPCMLD-DP108:001
UPCMLD-DP108:002
Vascular Wrap
Xorane
Yewtaxan
abi-007
albumin-bound paclitaxel
cMAP_000068
nchembio.188-comp1
nchembio.2007.34-comp9
nchembio.215-comp9
nchembio853-comp6
paclitaxel
weekly paclitaxel

Interventional clinical trials:

idNameStatusNCT IDPhase
1Treatment of Exudative and Vasogenic Chorioretinal Diseases Including Variants of AMD and Other CNV Related MaculopathyCompletedNCT00470977Phase 1, Phase 2
2The 'MADe IT' Clinical Trial: Molecular Analyses Directed Individualized Therapy for Advanced Non-Small Cell Lung CancerCompletedNCT00215930Phase 2
3Subcutaneous Alemtuzumab (CAMPATH®, MabCampath®) in Relapsed/Refractory B-Cell Chronic Lymphocytic LeukemiaCompletedNCT00328198Phase 2
4MK-2206, Paclitaxel and Trastuzumab in Treating Patients With HER2-overexpressing Solid Tumor MalignanciesCompletedNCT01235897Phase 1
5Trial of Ocular Subretinal Injection of a Recombinant Adeno-Associated Virus (rAAV2-VMD2-hMERTK) Gene Vector to Patients With Retinal Disease Due to MERTK MutationsRecruitingNCT01482195Phase 1
6Stem Cell Models of Best Disease and Other Retinal Degenerative Diseases.RecruitingNCT02162953
7Cell Collection to Study Eye DiseasesRecruitingNCT01432847
8Inherited Retinal Degenerative Disease RegistryRecruitingNCT02435940

Search NIH Clinical Center for Vitelliform Macular Dystrophy

Genetic Tests for Vitelliform Macular Dystrophy

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Genetic tests related to Vitelliform Macular Dystrophy:

id Genetic test Affiliating Genes
1 Vitelliform Dystrophy24

Anatomical Context for Vitelliform Macular Dystrophy

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MalaCards organs/tissues related to Vitelliform Macular Dystrophy:

33
Retina, Eye, Smooth muscle

Animal Models for Vitelliform Macular Dystrophy or affiliated genes

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Publications for Vitelliform Macular Dystrophy

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Articles related to Vitelliform Macular Dystrophy:

(show top 50)    (show all 125)
idTitleAuthorsYear
1
Quantitative Fundus Autofluorescence in Best Vitelliform Macular Dystrophy: RPE Lipofuscin is not Increased in Non-Lesion Areas of Retina. (26427423)
2016
2
Focal Choroidal Excavation in Best Vitelliform Macular Dystrophy: Case Report. (26155505)
2015
3
Retinal structure in young patients aged 10A years or less with Best vitelliform macular dystrophy. (25940553)
2015
4
Long-Term Results of Photodynamic Therapy for Choroidal Neovascularization in Pediatric Patients with Best Vitelliform Macular Dystrophy. (25675349)
2015
5
Follow-up of a case of vitelliform macular dystrophy over an 8-year period. (26011973)
2014
6
Bilateral choroidal excavation in best vitelliform macular dystrophy. (24512759)
2014
7
Outer retinal structure in best vitelliform macular dystrophy. (23765342)
2013
8
BEST1 sequence variants in Italian patients with vitelliform macular dystrophy. (23213274)
2012
9
Frequency, genotype, and clinical spectrum of best vitelliform macular dystrophy: data from a national center in Denmark. (22633354)
2012
10
Heavy silicone oil effective in macular hole surgery associated with adult vitelliform macular dystrophy. (21631684)
2012
11
Autosomal recessive vitelliform macular dystrophy in a large cohort of vitelliform macular dystrophy patients. (21273940)
2011
12
Intravitreal Ranibizumab for Choroidal Neovascularization in Best's Vitelliform Macular Dystrophy in a 6-Year-Old Boy. (21417187)
2011
13
Course of visual decline in relation to the Best1 genotype in vitelliform macular dystrophy. (20381869)
2010
14
Macular lesion resembling adult-onset vitelliform macular dystrophy in Kearns-Sayre syndrome with multiple mtDNA deletions. (20497429)
2010
15
Novel and homozygous BEST1 mutations in Chinese patients with Best vitelliform macular dystrophy. (20057343)
2010
16
Evaluation of macular structure and function by OCT and electrophysiology in patients with vitelliform macular dystrophy due to mutations in BEST1. (20375334)
2010
17
Functional and clinical data of Best vitelliform macular dystrophy patients with mutations in the BEST1 gene. (20057903)
2009
18
Vitelliform macular dystrophy. (19621556)
2009
19
Exudative age-related macular degeneration or Best vitelliform macular dystrophy?--A case report. (18655458)
2008
20
Optical coherence tomography demonstration of Best's vitelliform macular dystrophy in a child. (18050818)
2007
21
New VMD2 gene mutations identified in patients affected by Best vitelliform macular dystrophy. (17287362)
2007
22
In vivo microscopy of Best's Vitelliform Macular Dystrophy: optical coherence tomography study of combined stage III and IV lesions. (17430522)
2007
23
Vitelliform macular dystrophy. (16877078)
2006
24
A novel mutation of the VMD2 gene in a Chinese family with best vitelliform macular dystrophy. (16865191)
2006
25
Variant phenotype of Best vitelliform macular dystrophy associated with compound heterozygous mutations in VMD2. (16754206)
2006
26
Indocyanine green angiography abnormality of the periphery in vitelliform macular dystrophy. (16678528)
2006
27
Gene Symbol: VMD2. Disease: Best vitelliform macular dystrophy (VMD2). (15176385)
2004
28
Morphology and functional characteristics in adult vitelliform macular dystrophy. (15579992)
2004
29
A model of best vitelliform macular dystrophy in rats. (15452084)
2004
30
Detection of retinal dysfunction in vitelliform macular dystrophy using the multifocal ERG (MF-ERG). (12678279)
2003
31
The vitelliform macular dystrophy protein defines a new family of chloride channels. (11904445)
2002
32
Identification of novel VMD2 gene mutations in patients with Best vitelliform macular dystrophy. (11241846)
2001
33
Blunt trauma in Best's vitelliform macular dystrophy. (11203180)
2000
34
Ophthaproblem. Vitelliform macular dystrophy (Best's disease). (10587765)
1999
35
Clinical expression of Best's vitelliform macular dystrophy in Swedish families with mutations in the bestrophin gene. (10617923)
1999
36
Observation of macular lesion in Best's vitelliform macular dystrophy by scanning laser ophthalmoscope. (8970872)
1995-1996
37
Evidence for genetic heterogeneity in Best's vitelliform macular dystrophy. (8592326)
1995
38
A recombination event excludes the ROM1 locus from the Best's vitelliform macular dystrophy region. (7860071)
1995
39
Dark adaptation in patients with Best vitelliform macular dystrophy. (8060924)
1994
40
High-resolution meiotic and physical mapping of the best vitelliform macular dystrophy (VMD2) locus to pericentromeric chromosome 11. (7977378)
1994
41
Vitelliform macular dystrophy: a cause of macular holes with retinal detachments. (7821484)
1994
42
Monozygotic twin sisters with adult vitelliform macular dystrophy. (8352318)
1993
43
Visual acuity in patients with best vitelliform macular dystrophy. (8233392)
1993
44
Various fundus manifestations in a Japanese family with Best's vitelliform macular dystrophy. (8145393)
1993
45
Best Vitelliform Macular Dystrophy (20301346)
1993
46
Linkage of atypical vitelliform macular dystrophy (VMD-1) to the soluble glutamate pyruvate transaminase (GPT1) locus. (6823974)
1983
47
Pseudohypopyon in Best's vitelliform macular dystrophy. (7091279)
1982
48
Vitelliform macular dystrophy of late onset. (7317335)
1981
49
Choroidal neovascular membrane in Best's vitelliform macular dystrophy. (949077)
1976
50
A family with vitelliform macular dystrophy. Best's disease. (4479519)
1974

Variations for Vitelliform Macular Dystrophy

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Clinvar genetic disease variations for Vitelliform Macular Dystrophy:

5 (show all 16)
id Gene Variation Type Significance SNP ID Assembly Location
1BEST1NM_004183.3(BEST1): c.172_173dupCA (p.Gln58Hisfs)duplicationPathogenicrs672601356GRCh38Chr 11, 61955126: 61955127
2BEST1NM_004183.3(BEST1): c.279G> C (p.Trp93Cys)single nucleotide variantPathogenicrs28940273GRCh37Chr 11, 61723221: 61723221
3BEST1NM_004183.3(BEST1): c.253T> C (p.Tyr85His)single nucleotide variantPathogenicrs28940274GRCh37Chr 11, 61723195: 61723195
4BEST1NM_004183.3(BEST1): c.896G> A (p.Gly299Glu)single nucleotide variantPathogenicrs28941468GRCh37Chr 11, 61726998: 61726998
5BEST1NM_004183.3(BEST1): c.87C> G (p.Tyr29Ter)single nucleotide variantPathogenicrs121918285GRCh37Chr 11, 61719365: 61719365
6BEST1NM_004183.3(BEST1): c.679T> A (p.Tyr227Asn)single nucleotide variantPathogenicrs28941469GRCh37Chr 11, 61724901: 61724901
7BEST1NM_004183.3(BEST1): c.16A> C (p.Thr6Pro)single nucleotide variantPathogenicrs28940275GRCh37Chr 11, 61719294: 61719294
8BEST1NM_004183.3(BEST1): c.884_886delTCA (p.Ile295del)deletionPathogenicrs121918283GRCh37Chr 11, 61726986: 61726988
9BEST1NM_004183.3(BEST1): c.25G> A (p.Val9Met)single nucleotide variantPathogenicrs28940276GRCh37Chr 11, 61719303: 61719303
10BEST1NM_004183.3(BEST1): c.355G> C (p.Glu119Gln)single nucleotide variantPathogenicrs1805142GRCh37Chr 11, 61723297: 61723297
11BEST1NM_004183.3(BEST1): c.436_437delGCinsAA (p.Ala146Lys)indelPathogenicrs1800995GRCh37Chr 11, 61723378: 61723379
12BEST1NM_004183.3(BEST1): c.728C> T (p.Ala243Val)single nucleotide variantPathogenicrs28940570GRCh37Chr 11, 61725631: 61725631
13BEST1NM_004183.3(BEST1): c.140G> A (p.Arg47His)single nucleotide variantPathogenicrs28940278GRCh37Chr 11, 61719418: 61719418
14BEST1NM_004183.3(BEST1): c.1470_1471delCA (p.His490Glnfs)deletionPathogenicrs281865528GRCh37Chr 11, 61730096: 61730097
15BEST1NM_004183.3(BEST1): c.422G> A (p.Arg141His)single nucleotide variantPathogenicrs121918284GRCh37Chr 11, 61723364: 61723364
16BEST1NM_004183.3(BEST1): c.680A> G (p.Tyr227Cys)single nucleotide variantPathogenicrs267606677GRCh37Chr 11, 61724902: 61724902

Expression for genes affiliated with Vitelliform Macular Dystrophy

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

Pathways for genes affiliated with Vitelliform Macular Dystrophy

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

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
8.9BEST1, BEST2, BEST3, BEST4

GO Terms for genes affiliated with Vitelliform Macular Dystrophy

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

idNameGO IDScoreTop Affiliating Genes
1photoreceptor outer segmentGO:000175010.0PRPH2, ROM1
2chloride channel complexGO:00347079.2BEST1, BEST2, BEST3, BEST4
3integral component of plasma membraneGO:00058878.0BEST1, BEST2, BEST3, BEST4, PRPH2, ROM1

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

idNameGO IDScoreTop Affiliating Genes
1chloride transmembrane transportGO:19024769.2BEST1, BEST2, BEST3, BEST4
2visual perceptionGO:00076017.9BEST1, IMPG1, IMPG2, PRPH2, ROM1

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

idNameGO IDScoreTop Affiliating Genes
1chloride channel activityGO:00052549.2BEST1, BEST2, BEST3, BEST4
2extracellular matrix structural constituentGO:00052019.1IMPG1, IMPG2

Sources for Vitelliform Macular Dystrophy

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet