Vitreoretinochoroidopathy

mutation on BEST1 protein, human

Also Known As:

ADVIRC; Autosomal dominant Vitreoretinochoroidopathy; Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma; Vitreoretinochoroidopathy With Microcornea, Glaucoma, And Cataract; Vitreoretinochoroidopathy dominant; Vitreoretinochoroidopathy, Autosomal Dominant; Vitreoretinochoroidopathy, Autosomal Dominant, With Nanophthalmos

Networked: 11 relevant articles (0 outcomes, 2 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Vitreoretinochoroidopathy
2.	Vitelliform Macular Dystrophy
3.	Bestrophinopathy
4.	Retinitis Pigmentosa (Pigmentary Retinopathy)
5.	Macular Edema

Experts

1.	Weber, Bernhard H F: 3 articles (02/2020 - 01/2016)
2.	Kellner, Ulrich: 2 articles (02/2020 - 01/2016)
3.	Marmorstein, Alan D: 2 articles (04/2014 - 05/2006)
4.	Marmorstein, Lihua Y: 2 articles (04/2014 - 05/2006)
5.	Burr, Amanda: 1 article (01/2021)
6.	Chen, Rui: 1 article (01/2021)
7.	Pennesi, Mark E: 1 article (01/2021)
8.	Vargas, Maurício E: 1 article (01/2021)
9.	Weleber, Richard G: 1 article (01/2021)
10.	Yang, Paul: 1 article (01/2021)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Vitreoretinochoroidopathy:

1.	Proteins (Proteins, Gene)FDA Link 09/01/2009 - "This study describes a novel ADVIRC mutation and show that it disrupts an exonic splice enhancer (ESE) site, altering the binding of a splicing-associated SR protein. " 01/01/2016 - "Although computational prediction models suggest a change in the binding probability of splicing-associated SR proteins, in vitro splicing assays failed to demonstrate an effect of the c.248G > A mutation on splicing of BEST1 exon 3 or exon 4. Progressive posterior chorioretinal changes occurred over time in the initial ADVIRC proband, leading to visual loss. " 09/01/2009 - "Although SC35, SRp40 and SRp55 proteins all bound to the wild-type and mutated sequences with similar intensities, there was increased binding of ASF/SF2 to the two ADVIRC-mutated sequences compared with the wild-type or Best disease-mutated sequences. " 09/22/2016 - "ADVIRC is caused by mutations in the Bestrophin1 (BEST1) gene, which encodes a transmembrane protein thought to function as an ion channel in the basolateral membrane of retinal pigment epithelial (RPE) cells. " 09/01/2009 - "Gel shift assays were undertaken with RNA oligonucleotides encompassing the ADVIRC and Best disease mutations with four of the most commonly investigated SR proteins. "
2.	RNA Precursors (Precursor, mRNA)IBA 09/22/2016 - "Previous studies suggest that the distinct ADVIRC phenotype results from alternative splicing of BEST1 pre-mRNA. " 09/01/2009 - "ADVIRC is caused by distinct mutations in BEST1 that alter pre-mRNA splicing."
3.	BestrophinsIBA 04/01/2018 - "Bestrophin-1 was not detected or only minimally present by IHC in the ADVIRC RPE, even in the spared RPE area. " 05/17/2006 - "Mutations in human bestrophin-1 (VMD2) are genetically linked to a juvenile form of macular degeneration and autosomal dominant vitreoretinochoroidopathy. " 01/01/2016 - "To report the variability of clinical findings, rapid concentric progression, and successful treatment of macular edema in autosomal dominant vitreoretinochoroidopathy (ADVIRC) associated with a heterozygous c.256G > A missense mutation in the bestrophin-1 (BEST1) gene. " 05/01/2006 - "Mutations in VMD2, encoding bestrophin (best-1), cause Best vitelliform macular dystrophy (BMD), adult-onset vitelliform macular dystrophy (AVMD), and autosomal dominant vitreoretinochoroidopathy (ADVIRC). " 02/26/2020 - "Best vitelliform macular dystrophy (BD), autosomal dominant vitreoretinochoroidopathy (ADVIRC), and the autosomal recessive bestrophinopathy (ARB), together known as the bestrophinopathies, are caused by mutations in the bestrophin-1 (BEST1) gene affecting anion transport through the plasma membrane of the retinal pigment epithelium (RPE). "
4.	Retinaldehyde (Retinal)IBA 01/01/2021 - "Yet, this patient has the most severe retinal dysfunction compared with the father and paternal grandmother, whom exhibit classic characteristics of ADVIRC. " 04/01/2014 - "Mutations in BEST1 cause five distinct retinal degenerative diseases, including adult vitelliform macular dystrophy (AVMD), autosomal recessive bestrophinopathy (ARB), autosomal dominant vitreoretinochoroidopathy (ADVIRC), and retinitis pigmentosa (RP). "
5.	Retinal Pigments (Pigments, Visual)IBA 12/01/1995 - "The similarity of the findings in this young patient to those of an aged patient described previously suggest that autosomal dominant vitreoretinochoroidopathy is an early-onset dystrophy of the peripheral retina with minimal subsequent progression, characterized by a retinal pigment epithelial response that includes marked intraretinal migration and extracellular matrix deposition." 09/22/2016 - "Mislocalisation of BEST1 in iPSC-derived retinal pigment epithelial cells from a family with autosomal dominant vitreoretinochoroidopathy (ADVIRC)." 09/22/2016 - "ADVIRC is caused by mutations in the Bestrophin1 (BEST1) gene, which encodes a transmembrane protein thought to function as an ion channel in the basolateral membrane of retinal pigment epithelial (RPE) cells. "
6.	Protein Isoforms (Isoforms)IBA 09/01/2009 - "It has been shown previously that ADVIRC results from BEST1 mutations that cause exon skipping and lead to the production of shortened and internally deleted isoforms. "
7.	RNA (Ribonucleic Acid)IBA 09/01/2009 - "Gel shift assays were undertaken with RNA oligonucleotides encompassing the ADVIRC and Best disease mutations with four of the most commonly investigated SR proteins. "
8.	OligonucleotidesIBA 09/01/2009 - "Gel shift assays were undertaken with RNA oligonucleotides encompassing the ADVIRC and Best disease mutations with four of the most commonly investigated SR proteins. "
9.	Ion Channels (Ion Channel)IBA 09/22/2016 - "ADVIRC is caused by mutations in the Bestrophin1 (BEST1) gene, which encodes a transmembrane protein thought to function as an ion channel in the basolateral membrane of retinal pigment epithelial (RPE) cells. "
10.	AnionsIBA 02/26/2020 - "Both BD and ARB hiPSC-RPEs display a strong reduction of BEST1-mediated anion transport function compared to control, while ADVIRC mutations trigger an increased anion permeability suggesting a stabilized open state condition of channel gating. " 02/26/2020 - "Best vitelliform macular dystrophy (BD), autosomal dominant vitreoretinochoroidopathy (ADVIRC), and the autosomal recessive bestrophinopathy (ARB), together known as the bestrophinopathies, are caused by mutations in the bestrophin-1 (BEST1) gene affecting anion transport through the plasma membrane of the retinal pigment epithelium (RPE). "