Genetic Correlates of Phenotypic Variability in c.5882G>A p.(Gly1961Glu)-Associated Stargardt Disease
The ABCA4 c.5882G>A p.(Gly1961Glu) variant is associated with substantial interpatient variability in disease severity, heavily influenced by the nature of the second ABCA4 allele. These findings highlight the importance of precise genotypic characterization in prognostic counseling, clinical trial stratification, and the design of targeted gene therapies.
Authors
- Georg Ansari (ORCID: https://orcid.org/0009-0008-4693-2061)
- Sandrine H. Künzel (ORCID: https://orcid.org/0000-0002-1686-4642)
- Philipp Herrmann
- Petrus Chang
- Maximilian Pfau
- Jeroen A. A. H. Pas
- Frank G. Holz
- Carel B. Hoyng
Institutions
- University of Bonn (DE)
- Radboud University Nijmegen (NL)
- University of Basel (CH)
- Radboud University Medical Center (NL)
Publication Details
- Journal
- Investigative Ophthalmology & Visual Science
- Published
- 2026-02-12
- DOI
- https://doi.org/10.1167/iovs.67.2.32
- Primary Topic
- Retinal Development and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- BrightFocus Foundation