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

Felix Hundsberger; Pascal Escher; André Schaller; Christophe Valmaggia; Margarita G. Todorova

doi:10.1055/a-2055-1051

Klinische Monatsblätter für Augenheilkunde, Table of Contents

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

Felix Hundsberger

¹Ophthalmology, Medical University of Sofia, Sofia, Bulgaria

,

Pascal Escher

²Department of Ophthalmology, University Hospital Bern, Bern, Switzerland

,

André Schaller

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

,

Christophe Valmaggia

⁴Department of Ophthalmology, Cantonal Hospital St. Gallen, St. Gallen, Switzerland

⁵Department of Ophthalmology, University of Zurich, Zurich, Switzerland

,

Margarita G. Todorova

⁴Department of Ophthalmology, Cantonal Hospital St. Gallen, St. Gallen, Switzerland

⁵Department of Ophthalmology, University of Zurich, Zurich, Switzerland

⁶Department of Ophthalmology, University Hospital Basel, Basel, Switzerland

› Author Affiliations

Abstract

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References

References
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