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Ophthalmic Genetics Volume 37, 2016 - Issue 1
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Case Reports

Long-Term Macular Changes in the First Proband of Autosomal Dominant Vitreoretinochoroidopathy (ADVIRC) Due to a Newly Identified Mutation in BEST1

Connie J. ChenWilmer Eye Institute, Johns Hopkins Hospital, Baltimore, MD, USA, Correspondence[email protected]
,
Stuart KaufmanKaufman Eye Institute, Zephyrhills, FL, USA,
,
Kirk PackoDepartment of Ophthalmology, Rush University Medical Center, Chicago, IL, USA, and
,
Heidi StöhrInstitute of Human Genetics, University of Regensburg, Regensburg, Germany
,
Bernhard H. F. WeberInstitute of Human Genetics, University of Regensburg, Regensburg, Germany
&
Morton F. GoldbergWilmer Eye Institute, Johns Hopkins Hospital, Baltimore, MD, USA,
Pages 102-108 | Received 18 Dec 2014, Accepted 05 Apr 2015, Published online: 05 Feb 2016

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Fukutaro Mano, Stephen A. LoBue, Timothy W. Olsen, Alan D. Marmorstein & Jose S. Pulido. (2018) A novel missense mutation in BEST1 associated with an autosomal-dominant vitreoretinochoroidopathy (ADVIRC) phenotype. Ophthalmic Genetics 39:6, pages 749-753.
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Simone Kellner, Heidi Stöhr, Britta Fiebig, Silke Weinitz, Ghazaleh Farmand, Ulrich Kellner & Bernhard H. F. Weber. (2016) Fundus Autofluorescence and SD-OCT Document Rapid Progression in Autosomal Dominant Vitreoretinochoroidopathy (ADVIRC) Associated with a c.256G > A Mutation in BEST1. Ophthalmic Genetics 37:2, pages 201-208.
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Articles from other publishers (13)

Jie Shi, Tengyang Sun, Ke Xu, Xin Zhang & Yang Li. (2023) Variants of BEST1 and CRYBB2 cause a complex ocular phenotype comprising microphthalmia, microcornea, cataract, and vitelliform macular dystrophy: case report. BMC Ophthalmology 23:1.
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Artur V. Cideciyan, Samuel G. Jacobson, Alexander Sumaroka, Malgorzata Swider, Arun K. Krishnan, Rebecca Sheplock, Alexandra V. Garafalo, Karina E. Guziewicz, Gustavo D. Aguirre, William A. Beltran, Yoshitsugu Matsui, Mineo Kondo & Elise Heon. (2023) Photoreceptor function and structure in retinal degenerations caused by biallelic BEST1 mutations. Vision Research 203, pages 108157.
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Jack Komro, Sarah Skender, Bing X Ross & Xihui Lin. (2022) Autosomal Dominant Vitreoretinochoroidopathy With a Novel BEST1 Mutation and a Review of Reported Mutations. Cureus.
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Arnau Navinés-Ferrer, Sheila Ruiz-Nogales, Rafael Navarro & Esther Pomares. (2022) Impaired Bestrophin Channel Activity in an iPSC-RPE Model of Best Vitelliform Macular Dystrophy (BVMD) from an Early Onset Patient Carrying the P77S Dominant Mutation. International Journal of Molecular Sciences 23:13, pages 7432.
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. 2022. Clinical Ophthalmic Genetics and Genomics. Clinical Ophthalmic Genetics and Genomics 161 265 .
Mariana Matioli da Palma, Maurício E Vargas, Amanda Burr, Rui Chen, Mark E Pennesi, Richard G Weleber & Paul Yang. (2021) Variable expressivity of BEST1 -associated autosomal dominant vitreoretinochoroidopathy (ADVIRC) in a three-generation pedigree . BMJ Open Ophthalmology 6:1, pages e000813.
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Simranjeet Singh Grewal, Joseph J. Smith & Amanda-Jayne F. Carr. (2021) Bestrophinopathies: perspectives on clinical disease, Bestrophin-1 function and developing therapies. Therapeutic Advances in Ophthalmology 13, pages 251584142199719.
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Anna-Lena Nachtigal, Andrea Milenkovic, Caroline Brandl, Heidi L. Schulz, Lisa M. J. Duerr, Gabriele E. Lang, Charlotte Reiff, Philipp Herrmann, Ulrich Kellner & Bernhard H.F. Weber. (2020) Mutation-Dependent Pathomechanisms Determine the Phenotype in the Bestrophinopathies. International Journal of Molecular Sciences 21:5, pages 1597.
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Elise Boulanger-ScemamaJose-Alain Sahel, Saddek Mohand-SaidAline AntonioChristel CondroyerChristina ZeitzIsabelle Audo. (2019) AUTOSOMAL DOMINANT VITREORETINOCHOROIDOPATHY. Retina 39:5, pages 867-878.
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Morton F. Goldberg, Scott McLeod, Mark Tso, Kirk Packo, Malia Edwards, Imran A. Bhutto, Rajkumar Baldeosingh, Charles Eberhart, Bernhard H.F. Weber & Gerard A. Lutty. (2018) Ocular Histopathology and Immunohistochemical Analysis in the Oldest Known Individual with Autosomal Dominant Vitreoretinochoroidopathy. Ophthalmology Retina 2:4, pages 360-378.
Crossref
Adiv A. Johnson, Karina E. Guziewicz, C. Justin Lee, Ravi C. Kalathur, Jose S. Pulido, Lihua Y. Marmorstein & Alan D. Marmorstein. (2017) Bestrophin 1 and retinal disease. Progress in Retinal and Eye Research 58, pages 45-69.
Crossref
David A. Carter, Matthew J. K. Smart, William V. G. Letton, Conor M. Ramsden, Britta Nommiste, Li Li Chen, Kate Fynes, Manickam N. Muthiah, Pollyanna Goh, Amelia Lane, Michael B. Powner, Andrew R. Webster, Lyndon da Cruz, Anthony T. Moore, Peter J. Coffey & Amanda-Jayne F. Carr. (2016) Mislocalisation of BEST1 in iPSC-derived retinal pigment epithelial cells from a family with autosomal dominant vitreoretinochoroidopathy (ADVIRC). Scientific Reports 6:1.
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. (2016) Prednisone. Reactions Weekly 1601:1, pages 200-200.
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