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Klin Monbl Augenheilkd 2023; 240(04): 549-552
DOI: 10.1055/a-2055-1051
Der interessante Fall

The Value of a Combined Ophthalmogenetic Approach in Differentiating a Presumed Case of Isolated Retinitis Pigmentosa from Refsum Disease

Der Wert eines kombinierten ophthalmogenetischen Ansatzes zur Unterscheidung einer vermuteten Refsum-Krankheit bei einem mutmaßlichen Fall von „isolierter“ Retinitis pigmentosa

Authors

  • Felix Hundsberger

    1   Ophthalmology, Medical University of Sofia, Sofia, Bulgaria
  • Pascal Escher

    2   Department of Ophthalmology, University Hospital Bern, Bern, Switzerland
  • André Schaller

    3   Division of Human Genetics, Department of Pediatrics, Inselspital University Hospital Bern, Bern, Switzerland
  • Christophe Valmaggia

    4   Department of Ophthalmology, Cantonal Hospital St. Gallen, St. Gallen, Switzerland
    5   Department of Ophthalmology, University of Zurich, Zurich, Switzerland
  • Margarita G. Todorova

    4   Department of Ophthalmology, Cantonal Hospital St. Gallen, St. Gallen, Switzerland
    5   Department of Ophthalmology, University of Zurich, Zurich, Switzerland
    6   Department of Ophthalmology, University Hospital Basel, Basel, Switzerland