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