Drusenoid macular dystrophies in Singaporean Chinese: first report of Doyne honeycomb retinal dystrophy and late-onset retinal degeneration from Southeast Asia
DHRD and L-ORD, although originally believed to originate from European founder variants, are now established as probable mutational hotspots. We have now uncovered the first known family with DHRD in Southeast Asia, and the first L-ORD family without European heritage. Early recognition of inherited retinal diseases should be considered in patients with atypical drusen and family history of vision loss.
Authors
- Charles Ong (ORCID: https://orcid.org/0000-0001-8922-6177)
- Hwee Goon Tay (ORCID: https://orcid.org/0000-0002-5418-5149)
- Beau James Fenner (ORCID: https://orcid.org/0000-0002-5356-7604)
- Tien‐En Tan (ORCID: https://orcid.org/0000-0002-9869-5159)
- Mathieu Quinodoz (ORCID: https://orcid.org/0000-0002-9841-4433)
- Junming Ho (ORCID: https://orcid.org/0000-0001-9381-924X)
- Peijun Zhang (ORCID: https://orcid.org/0000-0002-2321-5384)
- Choi Mun Chan
- Rachael WC Tang
- Carlo Rivolta
- Ranjana S Mathur
Institutions
- University of Leicester (GB)
- University of Basel (CH)
- Singapore National Eye Center (SG)
- Singapore Eye Research Institute (SG)
- Duke-NUS Medical School (SG)
- Institute of Molecular and Clinical Ophthalmology Basel (CH)
Publication Details
- Journal
- Ophthalmic Genetics
- Published
- 2026-03-15
- DOI
- https://doi.org/10.1080/13816810.2026.2644217
- Primary Topic
- Retinal Diseases and Treatments
- Type
- article
- Field-Weighted Citation Impact
- 0.00