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.
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Peijun Zhang
Mathieu Quinodoz
Charles Ong
Ophthalmic Genetics
University of Basel
University of Leicester
Duke-NUS Medical School
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Zhang et al. (Sun,) studied this question.
www.synapsesocial.com/papers/69ba423c4e9516ffd37a23d7 — DOI: https://doi.org/10.1080/13816810.2026.2644217