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  • 标题:Hyperautofluorescent Dots are Characteristic in Ceramide Kinase Like-associated Retinal Degeneration
  • 本地全文:下载
  • 作者:Jesse D. Sengillo ; Galaxy Y. Cho ; Maarjaliis Paavo
  • 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.
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