Observational study reports DHRD and L-ORD in Southeast Asia, indicating novel genetic variations.
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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Zhang et al. (2026) studied this question.
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