Genetic Distinctions Between Reticular Pseudodrusen and Drusen: A Genome-Wide Association Study
The study highlights a clear association between the ARMS2-HTRA1 locus and higher RPD load. Although the CFH locus association did not achieve genome-wide significance, a suggestive link was observed. Three novel associations unique to RPD were identified, albeit for uncommon genetic variants. Further studies with larger sample sizes are needed to explore these findings.
Authors
- Roy Schwartz (ORCID: https://orcid.org/0000-0003-3487-5713)
- Sandra Liakopoulos (ORCID: https://orcid.org/0000-0003-3539-4372)
- Mahima Jhingan (ORCID: https://orcid.org/0000-0002-9969-3411)
- Roberto Bonelli (ORCID: https://orcid.org/0000-0003-2676-1230)
- Adnan Tufail (ORCID: https://orcid.org/0000-0001-6131-7640)
- Abraham Olvera‐Barrios (ORCID: https://orcid.org/0000-0002-3305-4465)
- Hagar Khalid (ORCID: https://orcid.org/0000-0002-5311-4015)
- Philippe Valmaggia (ORCID: https://orcid.org/0000-0003-2817-5630)
- Coen de Vente (ORCID: https://orcid.org/0000-0001-5908-8367)
- Catherine Egan (ORCID: https://orcid.org/0000-0001-5593-1169)
- Anthony P. Khawaja (ORCID: https://orcid.org/0000-0001-6802-8585)
- Robert Luben (ORCID: https://orcid.org/0000-0002-5088-6343)
- Alasdair Warwick (ORCID: https://orcid.org/0000-0002-0800-2890)
- Clara I. Sánchez
- Sumita Phatak
Institutions
- Goethe University Frankfurt (DE)
- Moorfields Eye Hospital NHS Foundation Trust (GB)
- Centrum Wiskunde & Informatica (NL)
- University Hospital of Basel (CH)
- National Institute for Health and Care Research (GB)
- The Lowy Medical Research Institute (US)
- UCL Biomedical Research Centre (GB)
- Moorfields Eye Hospital (GB)
- University Hospital Cologne (DE)
- University College London (GB)
- Amsterdam University of Applied Sciences (NL)
- University of Amsterdam (NL)
Publication Details
- Journal
- American Journal of Ophthalmology
- Published
- 2025-03-08
- DOI
- https://doi.org/10.1016/j.ajo.2025.03.007
- Citations
- 7
- Primary Topic
- Retinal Diseases and Treatments
- Type
- article
- Field-Weighted Citation Impact
- 11.95