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Ophthalmic Genetics Volume 37, 2016 - Issue 2
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Research Reports

Fundus Autofluorescence and SD-OCT Document Rapid Progression in Autosomal Dominant Vitreoretinochoroidopathy (ADVIRC) Associated with a c.256G > A Mutation in BEST1

Simone KellnerZentrum für seltene Netzhauterkrankungen, AugenZentrum Siegburg, MVZ ADTC Siegburg GmbH, Siegburg, Germany, ;RetinaScience, Bonn, Germany, Correspondence[email protected]
,
Heidi StöhrInstitut für Humangenetik, Universität Regensburg, Regensburg, Germany, and
,
Britta FiebigInstitut für Humangenetik, Universität Regensburg, Regensburg, Germany, and ;Pränatalzentrum Hamburg und Humangenetik im Gynaekologicum, Hamburg, Germany
,
Silke WeinitzZentrum für seltene Netzhauterkrankungen, AugenZentrum Siegburg, MVZ ADTC Siegburg GmbH, Siegburg, Germany, ;RetinaScience, Bonn, Germany,
,
Ghazaleh FarmandZentrum für seltene Netzhauterkrankungen, AugenZentrum Siegburg, MVZ ADTC Siegburg GmbH, Siegburg, Germany,
,
Ulrich KellnerZentrum für seltene Netzhauterkrankungen, AugenZentrum Siegburg, MVZ ADTC Siegburg GmbH, Siegburg, Germany, ;RetinaScience, Bonn, Germany,
&
Bernhard H. F. WeberInstitut für Humangenetik, Universität Regensburg, Regensburg, Germany, and
show all
Pages 201-208 | Received 07 Sep 2014, Accepted 15 Mar 2015, Published online: 15 Jan 2016

Citations (6)

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Lucas Antonio Garza-Garza, Rafael Baltazar Reyes León-Cachón, Marcelino Aguirre-Garza & Manuel Garza-Leon. (2020) “Novel p.Tyr284Cys BEST1 genotype–phenotype correlations of Vitelliform Macular Dystrophy in a family with incomplete penetrance”. Ophthalmic Genetics 41:2, pages 183-188.
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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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Articles from other publishers (4)

Ulrich Kellner, Nicole Weisschuh, Silke Weinitz, Ghazaleh Farmand, Sebastian Deutsch, Friederike Kortüm, Pascale Mazzola, Karin Schäferhoff, Valerio Marino & Daniele Dell’Orco. (2021) Autosomal Dominant Gyrate Atrophy-Like Choroidal Dystrophy Revisited: 45 Years Follow-Up and Association with a Novel C1QTNF5 Missense Variant. International Journal of Molecular Sciences 22:4, pages 2089.
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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
Yasmine F. Abdalla, Gabriella De Salvo, Ahmad Elsahn & James E. Self. (2017) Novel Presenting Phenotype in a Child With Autosomal Dominant Best's Vitelliform Macular Dystrophy. Ophthalmic Surgery, Lasers and Imaging Retina 48:7, pages 580-585.
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