The Value of a Combined Ophthalmogenetic Approach in Differentiating a Presumed Case of Isolated Retinitis Pigmentosa from Refsum Disease
Klin Monbl Augenheilkd
.
2023 Apr;240(4):549-552.
doi: 10.1055/a-2055-1051.
Epub 2023 Apr 25.
Authors
Felix Hundsberger
1
,
Pascal Escher
2
,
André Schaller
3
,
Christophe Valmaggia
4
5
,
Margarita G Todorova
4
5
6
Affiliations
1
Ophthalmology, Medical University of Sofia, Sofia, Bulgaria.
2
Department of Ophthalmology, University Hospital Bern, Bern, Switzerland.
3
Division of Human Genetics, Department of Pediatrics, Inselspital University Hospital Bern, Bern, Switzerland.
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.
PMID:
37164435
DOI:
10.1055/a-2055-1051
No abstract available
Publication types
Case Reports
MeSH terms
Humans
Refsum Disease*
Retinitis Pigmentosa* / diagnosis