Exploring Controversial Issues in BEST1-related Retinal Disease
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AuthorBlock: Janet R. Sparrow1, Stephen Tsang1, Anthony Moore6, Tingting Yang4, Bernhard HF Weber3, David M. Gamm2, Olaf Strauss5
1Department of Ophthalmology, Columbia University, New York, New York, United States; 2Department of Ophthalmology & Visual Sciences, University of WIsconsin, Madison, Wisconsin, United States; 3Institute of Human Genetics, University of Regensburg, , Germany; 4Department of Pharmacology and Physiology, University of Rochester, Rochester, New York, United States; 5Department of Ophthalmology, Charite University Medicine Berlin, , Germany; 6Department of Ophthalmology & Visual Sciences, UCSF, San Francisco, New York, United States;
DisclosureBlock: Janet R. Sparrow, None; Stephen Tsang, None; Anthony Moore, None; Tingting Yang, None; Bernhard HF Weber, None; David M. Gamm, None; Olaf Strauss, None;
Mutations in Bestrophin-1 (BEST1) cause retinopathies varying in age of onset, inheritance patterns, rate of progression and presence of single versus multiple lesions. BEST1 protein is localized to the basolateral plasma membrane of RPE. Consensus as to the function of the BEST1 protein has been complicated by mouse models that do not replicate the disease. Panelists and attendees will discuss evidence pointing to BEST1 as the channel responsible for a calcium-activated chloride current in human RPE, how this function is reflected in the disease mechanisms, and influence of disease causing mutations on BEST1 channel activity. Information gleaned from the canine and in vitro patient-specific disease models will be presented. Consideration will be given to fundus autofluorescence and SD-OCT findings as they relate to the natural history of the disease. Also to be discussed will be long-standing issues such as the current views of the role played by impaired phagocytosis and RPE lipofuscin in the disease process and the source of the hyper-autofluorescence that characterizes the vitelliform lesion. Prospects for gene and cell-based therapies will be reviewed.