Autosomal Recessive Bestrophinopathy: Clinical Features,Natural History,and Genetic Findings in Preparation for Clinical Trials |
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| Authors: | Giuseppe Casalino Kamron N. Khan Monica Armengol Genevieve Wright Nikolas Pontikos Michalis Georgiou Andrew R. Webster Anthony G. Robson Parampal S. Grewal Michel Michaelides |
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| Affiliation: | 1. Moorfields Eye Hospital NHS Foundation Trust, and UCL Institute of Ophthalmology, University College London, London, United Kingdom;2. Oftalmico Hospital, ASST Fatebenefratelli Sacco, Milan, Italy;3. Leeds Teaching Hospitals NHS Trust, Leeds, United Kingdom;4. Guy’s and St. Thomas’ Hospital NHS Foundation Trust, London, United Kingdom |
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| Abstract: | |
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| Keywords: | Autosomal recessive bestrophinopathy Electrophysiology Gene therapy Genetics Retinal imaging ADB" },{" #name" :" keyword" ," $" :{" id" :" kwrd0045" }," $$" :[{" #name" :" text" ," _" :" autosomal dominant Best disease ARB" },{" #name" :" keyword" ," $" :{" id" :" kwrd0055" }," $$" :[{" #name" :" text" ," _" :" autosomal recessive bestrophinopathy CNV" },{" #name" :" keyword" ," $" :{" id" :" kwrd0065" }," $$" :[{" #name" :" text" ," _" :" choroidal neovascularization CRT" },{" #name" :" keyword" ," $" :{" id" :" kwrd0075" }," $$" :[{" #name" :" text" ," _" :" central retinal thickness DA" },{" #name" :" keyword" ," $" :{" id" :" kwrd0085" }," $$" :[{" #name" :" text" ," _" :" dark-adapted FAF" },{" #name" :" keyword" ," $" :{" id" :" kwrd0095" }," $$" :[{" #name" :" text" ," _" :" fundus autofluorescence FCE" },{" #name" :" keyword" ," $" :{" id" :" kwrd0105" }," $$" :[{" #name" :" text" ," _" :" focal choroidal excavation IRF" },{" #name" :" keyword" ," $" :{" id" :" kwrd0115" }," $$" :[{" #name" :" text" ," _" :" intraretinal fluid LA" },{" #name" :" keyword" ," $" :{" id" :" kwrd0125" }," $$" :[{" #name" :" text" ," _" :" light-adapted logMAR" },{" #name" :" keyword" ," $" :{" id" :" kwrd0135" }," $$" :[{" #name" :" text" ," _" :" logarithm of the minimum angle of resolution NIR" },{" #name" :" keyword" ," $" :{" id" :" kwrd0145" }," $$" :[{" #name" :" text" ," _" :" near-infrared reflectance RPE" },{" #name" :" keyword" ," $" :{" id" :" kwrd0155" }," $$" :[{" #name" :" text" ," _" :" retinal pigment epithelium SRF" },{" #name" :" keyword" ," $" :{" id" :" kwrd0165" }," $$" :[{" #name" :" text" ," _" :" subretinal fluid VA" },{" #name" :" keyword" ," $" :{" id" :" kwrd0175" }," $$" :[{" #name" :" text" ," _" :" visual acuity |
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