Fundus Autofluorescence and SD-OCT Document Rapid Progression in Autosomal Dominant Vitreoretinochoroidopathy (ADVIRC) Associated with a c.256G > A Mutation in BEST1-Reference-Cited by-同舟云学术

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

Published:2016-01-15 Issue:2 Volume:37 Page:201-208
ISSN:1381-6810
Container-title:Ophthalmic Genetics
language:en
Short-container-title:Ophthalmic Genetics

Author:

Kellner Simone¹²,Stöhr Heidi³,Fiebig Britta³⁴,Weinitz Silke¹²,Farmand Ghazaleh¹,Kellner Ulrich¹²,Weber Bernhard H. F.³

Affiliation:

1. Zentrum für seltene Netzhauterkrankungen, AugenZentrum Siegburg, MVZ ADTC Siegburg GmbH, Siegburg, Germany,

2. RetinaScience, Bonn, Germany,

3. Institut für Humangenetik, Universität Regensburg, Regensburg, Germany, and

4. Pränatalzentrum Hamburg und Humangenetik im Gynaekologicum, Hamburg, Germany

Publisher

Informa UK Limited

Subject

Genetics (clinical),Ophthalmology,Pediatrics, Perinatology and Child Health

Link

https://www.tandfonline.com/doi/pdf/10.3109/13816810.2015.1033556

Reference25 articles.

1. Identification of the gene responsible for Best macular dystrophy

2. Mutations in a novel gene, VMD2, encoding a protein of unknown properties cause juvenile-onset vitelliform macular dystrophy (Best's disease)

3. Mutations ofVMD2Splicing Regulators Cause Nanophthalmos and Autosomal Dominant Vitreoretinochoroidopathy (ADVIRC)

4. Biallelic Mutation of BEST1 Causes a Distinct Retinopathy in Humans

5. Autosomal Dominant Vitreoretinochoroidopathy

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2. “Novel p.Tyr284Cys BEST1 genotype–phenotype correlations of Vitelliform Macular Dystrophy in a family with incomplete penetrance”;Ophthalmic Genetics;2020-03-03

3. AUTOSOMAL DOMINANT VITREORETINOCHOROIDOPATHY;Retina;2019-05

4. A novel missense mutation in BEST1 associated with an autosomal-dominant vitreoretinochoroidopathy (ADVIRC) phenotype;Ophthalmic Genetics;2018-09-17

5. Ocular Histopathology and Immunohistochemical Analysis in the Oldest Known Individual with Autosomal Dominant Vitreoretinochoroidopathy;Ophthalmology Retina;2018-04