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  • Article
  • Open Access
7 Citations
3,457 Views
18 Pages

Stargardt-like Clinical Characteristics and Disease Course Associated with Variants in the WDR19 Gene

  • Jana Sajovic,
  • Andrej Meglič,
  • Marija Volk,
  • Aleš Maver,
  • Martina Jarc-Vidmar,
  • Marko Hawlina and
  • Ana Fakin

22 January 2023

Variants in WDR19 (IFT144) have been implicated as another possible cause of Stargardt disease. The purpose of this study was to compare longitudinal multimodal imaging of a WDR19-Stargardt patient, harboring p.(Ser485Ile) and a novel c.(3183+1_3184-...