Autosomal dominant RP1 c.2613dupA (p.Arg872Thrfs*2) variant retinitis pigmentosa shows linear loss of the ellipsoid zone over time with highly variable phenotype.
The rate of progression of RP1 as measured by loss of EZ appears to be linear, independent of the age of onset. Furthermore, it appears that male subjects may present with earlier onset of disease as they showed a statistically significant smaller EZ diameter at baseline. Monitoring of EZ loss could be a valid clinical surrogate marker for clinical trials, but possibly sex differences and high variability of phenotypes need to be considered.
Authors
- Lucas Janeschitz‐Kriegl
- Carlo Rivolta (ORCID: https://orcid.org/0000-0002-0733-9950)
- Nastasia Foa
- Samuel Koller (ORCID: https://orcid.org/0000-0003-0965-0539)
- Maximilian Pfau (ORCID: https://orcid.org/0000-0001-9761-9640)
- Moreno Menghini (ORCID: https://orcid.org/0000-0002-1432-2524)
- Pascal Escher (ORCID: https://orcid.org/0000-0002-8281-2875)
- Georg Ansari (ORCID: https://orcid.org/0009-0008-4693-2061)
- Gabriela Grimaldi (ORCID: https://orcid.org/0000-0003-2435-7867)
- Hendrik P. N. Scholl (ORCID: https://orcid.org/0000-0002-7312-0316)
- Giuseppe Cancian (ORCID: https://orcid.org/0000-0002-9497-3166)
- Wolfgang Berger
Institutions
- University of Bern (CH)
- University of Applied Sciences and Arts of Southern Switzerland (CH)
- University Hospital of Bern (CH)
- University Hospital of Basel (CH)
- Laboratory for Biomedical Neurosciences (CH)
- Ente Ospedaliero Cantonale (CH)
- Molecular Partners (Switzerland) (CH)
- Institute of Molecular and Clinical Ophthalmology Basel (CH)
- Medical University of Vienna (AT)
Publication Details
- Journal
- Ophthalmologica
- Published
- 2025-04-01
- DOI
- https://doi.org/10.1159/000545606
- Citations
- 1
- Primary Topic
- Retinal Development and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.81