The value of age of onset and family history as predictors of molecular diagnosis in a Swedish cohort of inherited retinal disease
This study adds to the knowledge of the clinical and genetic landscape of IRDs in Sweden and establishes age of onset and family history as significant predictors for achieving a molecular diagnosis. Increased genetic testing on a population level substantially increased the number of individuals receiving a molecular diagnosis with a high diagnostic yield compared to other rare diseases.
Authors
- Erik Björck (ORCID: https://orcid.org/0000-0002-1210-2245)
- Karl De Geer (ORCID: https://orcid.org/0000-0001-7849-2082)
- Malin Kvarnung (ORCID: https://orcid.org/0000-0003-0193-0165)
- Stefan Löfgren (ORCID: https://orcid.org/0000-0002-9869-085X)
- Anna Lindstrand (ORCID: https://orcid.org/0000-0003-0806-5602)
Institutions
- Karolinska University Hospital (SE)
- Karolinska Institutet (SE)
- S:t Eriks Ögonsjukhus (SE)
Publication Details
- Journal
- Acta Ophthalmologica
- Published
- 2024-12-06
- DOI
- https://doi.org/10.1111/aos.16804
- Citations
- 4
- Primary Topic
- Retinal Development and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.94
Funders
- Novartis