Journal ArticleDOI
The spectrum of ocular phenotypes caused by mutations in the BEST1 gene
Camiel J. F. Boon,B. Jeroen Klevering,Bart P. Leroy,Carel B. Hoyng,Jan E.E. Keunen,Anneke I. den Hollander +5 more
Reads0
Chats0
TLDR
The purpose of this review is to describe this spectrum of phenotypes, which includes Best vitelliform macular dystrophy and adult-onset foveomacular viteLLiform Dystrophy, autosomal dominant vitreoretinochoroidopathy, the MRCS (microcornea, rod-cone dystrohy, cataract, posterior staphyloma) syndrome, and autosomal recessive bestrophinopathy.About:
This article is published in Progress in Retinal and Eye Research.The article was published on 2009-05-01. It has received 286 citations till now. The article focuses on the topics: Vitelliform macular dystrophy & Autosomal recessive bestrophinopathy.read more
Citations
More filters
Journal ArticleDOI
Central serous chorioretinopathy: Towards an evidence-based treatment guideline
Thomas J. van Rijssen,Elon H. C. van Dijk,Suzanne Yzer,Kyoko Ohno-Matsui,Jan E.E. Keunen,Reinier O. Schlingemann,Sobha Sivaprasad,Giuseppe Querques,Susan M. Downes,Sascha Fauser,Carel B. Hoyng,Felice Cardillo Piccolino,Jay Chhablani,Timothy Y Y Lai,Andrew J. Lotery,Michael Larsen,Frank G. Holz,K. Bailey Freund,Lawrence A. Yannuzzi,Camiel J. F. Boon,Camiel J. F. Boon +20 more
TL;DR: A comprehensive overview of the current rationale and evidence with respect to the variety of interventions available for treating central serous chorioretinopathy, including pharmacology, laser treatment, and photodynamic therapy is provided.
Journal ArticleDOI
OCT angiography and evaluation of the choroid and choroidal vascular disorders.
TL;DR: A review of the salient histological and anatomical features of the choroid, essential for the proper interpretation of in vivo imaging, is followed by a discussion of the fundamental principles of OCTA and the application of this advanced imaging modality to study and understand the Choroid.
Journal ArticleDOI
iPS cell modeling of Best disease: insights into the pathophysiology of an inherited macular degeneration
Ruchira Singh,Wei Shen,David Kuai,Jessica M. Martin,Xiangrong Guo,Molly A. Smith,Enio T. Perez,M. Joseph Phillips,Joseph M. Simonett,Kyle Wallace,Amelia D. Verhoeven,Elizabeth E. Capowski,Xiaoqing Zhang,Yingnan Yin,Patrick Halbach,Gerald A. Fishman,Lynda S. Wright,Bikash R. Pattnaik,David M. Gamm +18 more
TL;DR: The potential to use patient-specific hiPSCs to model and study maculopathies, an important class of blinding disorders in humans, is demonstrated.
Journal ArticleDOI
Structure and insights into the function of a Ca 2+ -activated Cl − channel
TL;DR: X-ray structures of chicken BEST1–Fab complexes show the first structure of a CaCC, the eukaryotic BEST1 channel, which recapitulates CaCC function in liposomes, is formed from a pentameric assembly of subunits, indicating the mechanism of Ca2+-dependent gating.
Journal ArticleDOI
Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases
Isabelle Audo,Kinga M. Bujakowska,Kinga M. Bujakowska,Kinga M. Bujakowska,Thierry Léveillard,Thierry Léveillard,Thierry Léveillard,Saddek Mohand-Said,Marie-Elise Lancelot,Marie-Elise Lancelot,Marie-Elise Lancelot,Aurore Germain,Aurore Germain,Aurore Germain,Aline Antonio,Christelle Michiels,Christelle Michiels,Christelle Michiels,Jean-Paul Saraiva,Mélanie Letexier,José-Alain Sahel,Shomi S. Bhattacharya,Christina Zeitz,Christina Zeitz,Christina Zeitz +24 more
TL;DR: This unbiased and time-efficient NGS approach allowed mutation detection in 75% of control cases and in 57% of test cases and has the possibility of associating known gene defects with novel phenotypes and mode of inheritance.
References
More filters
Journal ArticleDOI
Progress and problems with the use of viral vectors for gene therapy
TL;DR: With the development of a leukaemia-like syndrome in two patients cured of a disease by gene therapy, it is timely to contemplate how far this technology has come, and how far it still has to go.
Journal ArticleDOI
The Retinal Pigment Epithelium in Visual Function
TL;DR: This review summarizes the current knowledge of RPE functions and describes how failure of these functions causes loss of visual function.
Journal ArticleDOI
Function of alternative splicing.
Stefan Stamm,Shani Ben-Ari,Ilona Rafalska,Yesheng Tang,Zhaiyi Zhang,Debra Toiber,Thangavel Alphonse Thanaraj,Hermona Soreq +7 more
TL;DR: Evidence is now accumulating that alternative splicing coordinates physiologically meaningful changes in protein isoform expression and is a key mechanism to generate the complex proteome of multicellular organisms.
Book
Stereoscopic Atlas of Macular Diseases: Diagnosis and Treatment
TL;DR: Normal macula pathophysiologic and histopathologic bases for interpretation of fluorescein angiography diseases causing choroidal exudative and hemorrhagic localized detachment of the retina and retinal pigment epithelium.
Journal ArticleDOI
Pre-mRNA Splicing: Awash in a Sea of Proteins
TL;DR: The number of new proteins emerging with no prior connection to splicing was surprising and it would be premature to label these proteins as bona fide splicing factors, yet many were identified multiple times in complexes purified under diverse conditions or from different organisms.
Related Papers (5)
Identification of the gene responsible for Best macular dystrophy
Biallelic Mutation of BEST1 Causes a Distinct Retinopathy in Humans
Rosemary Burgess,Rosemary Burgess,Ian D. Millar,Bart P. Leroy,Jill E. Urquhart,Jill E. Urquhart,Ian M. Fearon,Elfrida De Baere,Peter de Nully Brown,Anthony G. Robson,Anthony G. Robson,Genevieve A. Wright,Philippe Kestelyn,Graham E. Holder,Graham E. Holder,Andrew R. Webster,Andrew R. Webster,Forbes D C Manson,Forbes D C Manson,Forbes D C Manson,Graeme C.M. Black,Graeme C.M. Black,Graeme C.M. Black +22 more