文章基本信息

标题：Hyperautofluorescent Dots are Characteristic in Ceramide Kinase Like-associated Retinal Degeneration
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作者：Jesse D. Sengillo ; Galaxy Y. Cho ; Maarjaliis Paavo 等
期刊名称：Scientific Reports
电子版ISSN：2045-2322
出版年度：2019
卷号：9
期号：1
页码：1-7
DOI：10.1038/s41598-018-37578-4
出版社：Springer Nature
摘要：signal in another patient. FfERG recordings showed markedly attenuated rod and cone response in all patients. We conclude that these patients exhibit several features that, collectively, may warrant screening of CERKL as a first candidate: early-onset maculopathy, severe generalized retinal dysfunction, peripheral lacunae, intraretinal pigment migration, and hyperautofluorescent foci on SW-AF.