@article{af61a718bb9a4593972ed94050405557,
title = "Towards treatment of stargardt disease: Workshop organized and sponsored by the foundation fighting blindness",
abstract = "Accumulation of fluorescent metabolic byproducts of the visual (retinoid) cycle is associated with photoreceptor and retinal pigment epithelial cell death in both Stargardt disease and atrophic (nonneovascular) age-related macular degeneration (AMD). As a consequence of this observation, small molecular inhibitors of enzymes in the visual cycle were recently tested in clinical trials as a strategy to protect the retina and retinal pigment epithelium in patients with atrophic AMD. To address the clinical translational needs for therapies aimed at both diseases, a workshop organized by the Foundation Fighting Blindness was hosted by the Department of Pharmacology at Case Western Reserve University on February 17, 2017, at the Tinkham Veale University Center, Cleveland, OH, USA. Invited speakers highlighted recent advances in the understanding of the pathophysiology of Stargardt disease, in terms of its clinical characterization and the development of endpoints for clinical trials, and discussed the comparability of therapeutic strategies between atrophic age-related macular degeneration (AMD) and Stargardt disease. Investigators speculated that reducing the concentrations of visual cycle precursor substances and/or their byproducts may provide valid therapeutic options for the treatment of Stargardt disease. Here we review the workshop{\textquoteright}s presentations in the context of published literature to help shape the aims of ongoing research endeavors and aid the development of therapies for Stargardt disease.",
keywords = "A2E, ABCA4, Age-related macular degeneration, All-trans-retinal, Geographic atrophy, Lipofuscin, Stargardt disease",
author = "Sears, {Avery E.} and Bernstein, {Paul S.} and Cideciyan, {Artur V.} and Carel Hoyng and {Charbel Issa}, Peter and Krzysztof Palczewski and Rosenfeld, {Philip J.} and Srinivas Sadda and Ulrich Schraermeyer and Sparrow, {Janet R.} and Ilyas Washington and Scholl, {Hendrik P.N.}",
note = "Funding Information: Keywords: Stargardt disease; geo graphic atrophy; age-related mac ular degeneration; ABCA4; lipofuscin; A2E, all-trans-retinal Citation: Sears AE, Bernstein PS, Cideciyan AV, Hoyng C, Charbel Issa P, Palczewski K, Rosenfeld PJ, Sadda S, Schraermeyer U, Sparrow JR, Washington I, Scholl HPN. Towards treatment of Stargardt disease: workshop organized and sponsored by the Foundation Fighting Blindness. Trans Vis Sci Tech. 2017;6(5):6, doi:10.1167/tvst.6.5.6 Copyright 2017 The Authors Funding Information: SriniVas Sadda, MD, reported the interim imaging results of ProgSTAR (funded by the Foundation Fighting Blindness), a combined retrospective and prospective natural history study of Stargardt disease using fundus autofluorescence (FAF) to quantify the progression of Stargardt disease as the primary outcome measure. This was combined with secondary assessments of visual acuity, microperimetry, and spectral-domain optical coherence tomography (SD-OCT) to analyze the progression of retinal disease.41,42 Due to the variability of FAF abnormalities in Stargardt patients, two main categories were adopted for the study: (1) definitely decreased autofluorescence (DDAF) and (2) questionably decreased autofluorescence (QDAF) that is either poorly demarcated QDAF (PD-QDAF) or well-demarcated QDAF (WD-QDAF). Using this FAF classification approach, Doheny Image Reading Center researchers found near equal distribution of PD-QDAF, DDAF, and PD-QDAF with a similar distribution of DDAF and WD-QDAF. Sadda concluded that Stargardt disease comprises heterogeneous phenotypes of atrophy with variable natural histories and progression rates. Of importance, specific associated features on FAF imaging in a heterogeneous background appeared to be associated with a more rapid progression of disease based on FAF and SD-OCT. The findings may enable improved patient selection for clinical trials that must be appropriately designed to determine safety and efficacy.",
year = "2017",
month = sep,
day = "14",
doi = "10.1167/tvst.6.5.6",
language = "English (US)",
volume = "6",
journal = "Translational Vision Science and Technology",
issn = "2164-2591",
publisher = "Association for Research in Vision and Ophthalmology Inc.",
number = "5",
}