MCID: BST001
MIFTS: 34

Bestrophinopathy

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Bestrophinopathy

MalaCards integrated aliases for Bestrophinopathy:

Name: Bestrophinopathy 39 12 13 45 15 74
Autosomal Recessive Bestrophinopathy 12 54
Bestrophinopathy, Autosomal Recessive 74
Retinopathy, Burgess-Black Type 54

Classifications:



External Ids:

Disease Ontology 12 DOID:0050662
MeSH 45 C567518

Summaries for Bestrophinopathy

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 139455Disease definitionAutosomal recessive bestrophinopathy (ARB) is a retinal dystrophy, characterized by central visual loss in the first 2 decades of life, associated with an absent electrooculogram (EOG) light rise and a reduced electroretinogram (ERG).EpidemiologyThe prevalence of ARB is still unknown; to date less than 20 cases have been described in the world literature.Clinical descriptionARB generally manifests in the first 2 decades of life, but patients may also first become symptomatic as late as the fifth decade of life. Most affected individuals initially present with central visual loss (visual acuity ranging from 20/200 to 20/25) and are usually mildly to highly hyperopic. Additional ocular findings may include short axial length with angle-closure glaucoma, amblyopia, anterior uveitis, strabismus, and color vision defects. Choroidal neovascularization (CNV) has been described in one case. Leukokoria and esotropia have also been reported.EtiologyARB is caused by compound heterozygous or homozygousmutations in the BEST1 gene (11q12) which encodes the chloride ion channel bestrophin-1 (expressed in the retinal pigment epithelium (RPE)). Mutations in BEST1 reduce or abolish the activity of the channel. It has been proposed that ARB may represent the null phenotype of bestrophin-1 in humans.Diagnostic methodsDiagnosis of ARB relies on ophthalmologic examination, familial history and visual electrophysiology revealing an abnormal full-field ERG (reduced amplitudes and delayed implicit times of the rod and cone ERGs). Absent or severe reduction in EOG light rise (Arden ratio= 1.0) is commonly observed. Irregularity of the RPE throughout the posterior fundus, often with scattered punctate flecks (observed by autofluorescence imaging) is also found. Optical coherence tomography (OCT) imaging shows retinal edema, serous subretinal fluid, subretinal yellowish lesions and scars. Classic vitelliform lesions are not present. Fluorescein angiography reveals widespread patchy areas of hyperfluorescence and signs of mild perivascular leakage in the peripheral retina. Cystoid macular edema may be observed. Diagnosis is confirmed by the genetic screening of BEST1.Differential diagnosisDifferential diagnosis includes Stargardt disease, familial drusen, Best vitelliform macular dystrophy, age-related macular degeneration (see these terms), central serous chorioretinopathy and chorioretinitis.Genetic counselingTransmission is autosomal recessive. Genetic counseling should be offered to at-risk couples (both individuals are carriers of a disease-causing mutation) informing them of the 25% chance of having an affected child.Management and treatmentManagement of ARB is mainly symptomatic and includes treatment of amblyopia, surgical strabismus correction, prophylactic laser (YAG) peripheral iridotomy to prevent angle closure and treat glaucoma, and intravitreal bevacizumab for the treatment for CNV. Cystoid macular edema may be treated with oral administration of acetazolamide. Gene therapy may offer a possible treatment for ARB in the future. Close monitoring of ARB patients is recommended, including repeated gonioscopy to judge the risk of angle closure.PrognosisOnset of vision loss in patients has been reported to vary between the ages of 4 to 40, and is coincident with initial presentation.Visit the Orphanet disease page for more resources.

MalaCards based summary : Bestrophinopathy, also known as autosomal recessive bestrophinopathy, is related to bestrophinopathy, autosomal recessive and vitreoretinochoroidopathy. An important gene associated with Bestrophinopathy is BEST1 (Bestrophin 1), and among its related pathways/superpathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Ion channel transport. Affiliated tissues include Eye and Eye, and related phenotypes are Decreased shRNA abundance and pigmentation

Disease Ontology : 12 A macular degeneration that is characterized by central vision loss, an absent electrooculogram light rise and a reduced electroretinogram, has material basis in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the BEST1 gene on chromosome 11q12.

Related Diseases for Bestrophinopathy

Graphical network of the top 20 diseases related to Bestrophinopathy:



Diseases related to Bestrophinopathy

Symptoms & Phenotypes for Bestrophinopathy

GenomeRNAi Phenotypes related to Bestrophinopathy according to GeneCards Suite gene sharing:

27 (showing 1, show less)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance GR00297-A 8.8 BEST1 BEST4 RPE65

MGI Mouse Phenotypes related to Bestrophinopathy:

47 (showing 2, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 pigmentation MP:0001186 9.13 BEST1 RLBP1 RPE65
2 vision/eye MP:0005391 8.92 BEST1 BEST2 RLBP1 RPE65

Drugs & Therapeutics for Bestrophinopathy

Interventional clinical trials:

(showing 1, show less)
# Name Status NCT ID Phase Drugs
1 Stem Cell Models of Best Disease and Other Retinal Degenerative Diseases. Active, not recruiting NCT02162953

Search NIH Clinical Center for Bestrophinopathy

Cochrane evidence based reviews: bestrophinopathy

Genetic Tests for Bestrophinopathy

Anatomical Context for Bestrophinopathy

MalaCards organs/tissues related to Bestrophinopathy:

42
Retina, Eye
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Bestrophinopathy:
# Tissue Anatomical CompartmentCell Relevance
1 Eye Retinal Pigmented Epithelium Mature Retinal Pigmented Epithelium Cells Affected by disease, potential therapeutic candidate
2 Eye Retinal Pigmented Epithelium Retinal Pigmented Epithelium Progenitor Cells Affected by disease, potential therapeutic candidate

Publications for Bestrophinopathy

Articles related to Bestrophinopathy:

(showing 36, show less)
# Title Authors Year
1
Novel BEST1 mutations and special clinical characteristics of autosomal recessive bestrophinopathy in Chinese patients. ( 30593719 )
2019
2
Clinical and Mutation Analysis of Patients with Best Vitelliform Macular Dystrophy or Autosomal Recessive Bestrophinopathy in Chinese Population. ( 30498755 )
2018
3
NORMAL ELECTROOCULOGRAPHY IN BEST DISEASE AND AUTOSOMAL RECESSIVE BESTROPHINOPATHY. ( 28590961 )
2018
4
AUTOSOMAL RECESSIVE BESTROPHINOPATHY: MULTIMODAL IMAGING UPDATE. ( 29384981 )
2018
5
Mutant Best1 Expression and Impaired Phagocytosis in an iPSC Model of Autosomal Recessive Bestrophinopathy. ( 29540715 )
2018
6
BEST1 protein stability and degradation pathways differ between autosomal dominant Best disease and autosomal recessive bestrophinopathy accounting for the distinct retinal phenotypes. ( 29668979 )
2018
7
Next generation sequencing identifies novel disease-associated BEST1 mutations in Bestrophinopathy patients. ( 29976937 )
2018
8
CHANGES OF CONE PHOTORECEPTOR MOSAIC IN AUTOSOMAL RECESSIVE BESTROPHINOPATHY. ( 30308565 )
2018
9
Clinical Course of Autosomal Recessive Bestrophinopathy Complicated by Choroidal Neovascularization. ( 30457648 )
2018
10
Bestrophinopathy Mimicking Central Serous Chorioretinopathy. ( 31047539 )
2018
11
Screening of BEST1 Gene in a Chinese Cohort With Best Vitelliform Macular Dystrophy or Autosomal Recessive Bestrophinopathy. ( 28687848 )
2017
12
Bestrophinopathy: An RPE-photoreceptor interface disease. ( 28111324 )
2017
13
A unique case series of autosomal recessive bestrophinopathy exhibiting multigenerational inheritance. ( 28481155 )
2017
14
Ten-Year Follow-Up after Bilateral Submacular Neovascular Membrane Removal in a Case of Autosomal Recessive Bestrophinopathy. ( 28559838 )
2017
15
Biallelic Mutations in the BEST1 Gene: Additional Families with Autosomal Recessive Bestrophinopathy. ( 26333019 )
2016
16
BESTROPHINOPATHY: A Spectrum of Ocular Abnormalities Caused by the c.614T>C Mutation in the BEST1 Gene. ( 26716959 )
2016
17
Detailed analysis of family with autosomal recessive bestrophinopathy associated with new BEST1 mutation. ( 27071392 )
2016
18
Clinical and Genetic Findings of Autosomal Recessive Bestrophinopathy in Japanese Cohort. ( 27163236 )
2016
19
Use of Intravitreal Bevacizumab in a 9-Year-Old Child with Choroidal Neovascularization Associated with Autosomal Recessive Bestrophinopathy. ( 25265375 )
2015
20
New best1 mutations in autosomal recessive bestrophinopathy. ( 25545482 )
2015
21
Autosomal Recessive Bestrophinopathy Is Not Associated With the Loss of Bestrophin-1 Anion Channel Function in a Patient With a Novel BEST1 Mutation. ( 26200502 )
2015
22
A Novel BEST1 Mutation in Autosomal Recessive Bestrophinopathy. ( 26720466 )
2015
23
Autosomal recessive bestrophinopathy associated with angle-closure glaucoma. ( 24859690 )
2014
24
Screening for BEST1 gene mutations in Chinese patients with bestrophinopathy. ( 25489231 )
2014
25
Autosomal recessive bestrophinopathy: differential diagnosis and treatment options. ( 23290749 )
2013
26
Clinical and genetic misdiagnosis of autosomal recessive bestrophinopathy. ( 24337562 )
2013
27
Value of anti-VEGF treatment in choroidal neovascularization associated with autosomal recessive bestrophinopathy. ( 24459458 )
2013
28
Phenotype and genotype of patients with autosomal recessive bestrophinopathy. ( 21809908 )
2012
29
Nonsense-mediated decay as the molecular cause for autosomal recessive bestrophinopathy in two unrelated families. ( 22199244 )
2012
30
Unilateral vitelliform phenotype in autosomal recessive bestrophinopathy. ( 22584882 )
2012
31
Functional characterization of bestrophin-1 missense mutations associated with autosomal recessive bestrophinopathy. ( 21330666 )
2011
32
Autosomal recessive bestrophinopathy: new observations on the retinal phenotype - clinical and molecular report of an Italian family. ( 21412020 )
2011
33
Childhood-onset autosomal recessive bestrophinopathy. ( 21825197 )
2011
34
Assessment of canine BEST1 variations identifies new mutations and establishes an independent bestrophinopathy model (cmr3). ( 21197113 )
2010
35
A synonymous codon variant in two patients with autosomal recessive bestrophinopathy alters in vitro splicing of BEST1. ( 21203346 )
2010
36
Detailed analysis of retinal function and morphology in a patient with autosomal recessive bestrophinopathy (ARB). ( 18985398 )
2009

Variations for Bestrophinopathy

Expression for Bestrophinopathy

Search GEO for disease gene expression data for Bestrophinopathy.

Pathways for Bestrophinopathy

Pathways related to Bestrophinopathy according to GeneCards Suite gene sharing:

(showing 6, show less)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.69 BEST1 BEST2 BEST3 BEST4
2
Show member pathways
11.42 BEST1 BEST2 BEST3 BEST4
3 11.29 RLBP1 RPE65
4
Show member pathways
10.9 RLBP1 RPE65
5 10.73 RLBP1 RPE65
6 10.6 RLBP1 RPE65

GO Terms for Bestrophinopathy

Cellular components related to Bestrophinopathy according to GeneCards Suite gene sharing:

(showing 2, show less)
# Name GO ID Score Top Affiliating Genes
1 cell body GO:0044297 8.96 RLBP1 RPE65
2 chloride channel complex GO:0034707 8.92 BEST1 BEST2 BEST3 BEST4

Biological processes related to Bestrophinopathy according to GeneCards Suite gene sharing:

(showing 9, show less)
# Name GO ID Score Top Affiliating Genes
1 biological_process GO:0008150 9.63 BEST2 BEST3 BEST4
2 ion transport GO:0006811 9.62 BEST1 BEST2 BEST3 BEST4
3 response to stimulus GO:0050896 9.61 BEST1 RLBP1 RPE65
4 visual perception GO:0007601 9.54 BEST1 RLBP1 RPE65
5 retinoid metabolic process GO:0001523 9.4 RLBP1 RPE65
6 detection of light stimulus involved in visual perception GO:0050908 9.26 BEST1 RPE65
7 chloride transmembrane transport GO:1902476 9.26 BEST1 BEST2 BEST3 BEST4
8 vitamin A metabolic process GO:0006776 9.16 RLBP1 RPE65
9 chloride transport GO:0006821 8.92 BEST1 BEST2 BEST3 BEST4

Molecular functions related to Bestrophinopathy according to GeneCards Suite gene sharing:

(showing 2, show less)
# Name GO ID Score Top Affiliating Genes
1 molecular_function GO:0003674 9.13 BEST2 BEST3 BEST4
2 chloride channel activity GO:0005254 8.92 BEST1 BEST2 BEST3 BEST4

Sources for Bestrophinopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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