Clinical manifestations of dual-gene variants involving ABCA4 in retinal dystrophies
This study underscores the importance of advanced diagnostic tools and careful genotype evaluation to accurately identify and understand potential complex genetic interactions in IRDs. The observed phenotypes enhance our understanding of how these genes contribute to human retinal function and dysfunction. Furthermore, these insights can impact clinical decision-making, as patients with dual-gene variant constellations might experience questionable benefit from potential future gene therapies. Thus, careful patient selection and complete genotype and phenotype assessment before treatment is essential to manage potential risks and costs effectively.
Authors
- Lasse Wolfram (ORCID: https://orcid.org/0000-0003-1549-5889)
- Tobias B. Haack (ORCID: https://orcid.org/0000-0001-6033-4836)
- Krunoslav Stingl (ORCID: https://orcid.org/0000-0001-8547-7593)
- Susanne Kohl (ORCID: https://orcid.org/0000-0002-6438-6331)
- Nicole Weisschuh (ORCID: https://orcid.org/0000-0002-1047-6227)
- Laura Kuehlewein (ORCID: https://orcid.org/0000-0003-1906-8681)
- Pascale Mazzola (ORCID: https://orcid.org/0000-0002-2971-5603)
- David A. Merle (ORCID: https://orcid.org/0000-0003-4485-5580)
- Bernd Wissinger
- Katarína Štingl (ORCID: https://orcid.org/0000-0002-8132-911X)
- Melanie Kempf (ORCID: https://orcid.org/0000-0002-0370-0462)
- Milda Reith (ORCID: https://orcid.org/0000-0003-3656-0707)
- Karin Poths
Institutions
- STZ eyetrial (DE)
- University of Tübingen (DE)
Publication Details
- Journal
- BMC Ophthalmology
- Published
- 2025-04-23
- DOI
- https://doi.org/10.1186/s12886-025-04048-1
- Primary Topic
- Retinal Development and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Universitätsklinikum Tübingen