Characterising <scp>PRPF31</scp>‐associated retinal dystrophy: Clinical insights from baseline data in a natural history study
This study confirms phenotypic variability in PRPF31-RD and expands the spectrum with pericentral RD. The feasibility of structural and functional assessments depended on disease stage, with scotopic cyan MP limited to eyes with preserved HAR and EZ.
Authors
- Leonardo Colombo (ORCID: https://orcid.org/0000-0002-9556-994X)
- Ragnheiður Bragadóttir (ORCID: https://orcid.org/0000-0001-6381-9492)
- Ulrika Kjellström (ORCID: https://orcid.org/0000-0002-7316-4976)
- Kathrine Olaussen Eriksen (ORCID: https://orcid.org/0000-0002-8380-6514)
- Josephine Prener Holtan (ORCID: https://orcid.org/0000-0001-7731-0750)
- Jon Roger Eidet (ORCID: https://orcid.org/0000-0002-1900-4605)
- Jacopo Baldesi
Institutions
- Oslo University Hospital (NO)
- AOL (United States) (US)
- University of Oslo (NO)
- Lund University (SE)
- University of Milan (IT)
- Ospedale San Paolo (IT)
- Skåne University Hospital (SE)
Publication Details
- Journal
- Acta Ophthalmologica
- Published
- 2025-09-22
- DOI
- https://doi.org/10.1111/aos.70005
- Citations
- 2
- Primary Topic
- Retinal Development and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 1.61