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The Role of the Choroid in Stargardt Disease
Authors:Solmaz Abdolrahimzadeh  Martina Formisano  Mariachiara Di Pippo  Manuel Lodesani  Andrew John Lotery
Affiliation:1.Ophthalmology Unit, Neurosciences, Mental Health, and Sense Organs (NESMOS) Department, Faculty of Medicine and Psychology, University of Rome Sapienza, 00185 Rome, Italy; (M.D.P.); (M.L.);2.St. Andrea Hospital, Via di Grottarossa 1035/1039, 00189 Rome, Italy;3.St. Maria della Misericordia Hospital, Viale Tre Martiri 140, 45100 Rovigo, Italy;4.Clinical and Experimental Sciences, Faculty of Medicine, University of Southampton, Southampton SO16 6YD, UK;
Abstract:Stargardt disease is the commonest juvenile macular dystrophy. It is caused by genetic mutations in the ABCA4 gene. Diagnosis is not always straightforward, and various phenocopies exist. Late-onset disease can be misdiagnosed with age-related macular disease. A correct diagnosis is particularly critical because of emergent gene therapies. Stargardt disease is known to affect retinal pigment epithelium and photoreceptors. Many studies have also highlighted the importance of the choroid in the diagnosis, pathophysiology, and progression of the disease. The choroid is in an integral relationship with the retinal pigment epithelium and photoreceptors, and its possible involvement during the disease should be considered. The purpose of this review is to analyze the current diagnostic tools for choroidal evaluation and the extrapolation of useful data for ophthalmologists and researchers studying the disease.
Keywords:Stargardt disease   retinal dystrophy   spectral domain optical coherence tomography   choroidal vascularity index   choriocapillaris vascular density   choroidal thickness   optical coherence tomography angiography   enhanced depth imaging   fluorescein angiography   indocyanine green angiography
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