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  • Karin W. Littink, Jan-Willem R. Pott, +11 authors Anneke I den Hollander
  • Medicine, Biology
  • Investigative ophthalmology & visual science
  • 2010 (First Published: 1 July 2010)
  • PURPOSE. To identify the genetic defect in a family with variable retinal phenotypes. The proband had a diagnosis of Leber congenital amaurosis (LCA), whereas her two cousins had an early-onsetContinue Reading
  • Esmee H. Runhart, Riccardo Sangermano, +16 authors Frans P M Cremers
  • Medicine, Biology
  • Investigative ophthalmology & visual science
  • 2018 (First Published: 2 July 2018)
  • Purpose To assess the occurrence and the disease expression of the common p.Asn1868Ile variant in patients with Stargardt disease (STGD1) harboring known, monoallelic causal ABCA4 variants. MethodsContinue Reading