Drusenoid macular dystrophies in Singaporean Chinese: first report of Doyne honeycomb retinal dystrophy and late-onset retinal degeneration from Southeast Asia.
Peijun Zhang, Mathieu Quinodoz, Charles Ong et al.
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From the abstract
We report two ethnic Chinese families affected by distinct drusenoid inherited maculopathies: Doyne Honeycomb Retinal Dystrophy (DHRD) and Late-Onset Retinal Degeneration (L-ORD)-to expand their recognized phenotypic and ethnic spectrum.
Reported results
In the DHRD family, two members demonstrated peripapillary drusen, while one also had subretinal drusenoid deposits with minimal progression and no evidence of choroidal neovascularization (CNV). In the L-ORD family, two individuals showed progressive ellipsoid zone loss, outer retinal atrophy, and CNV with spontaneous regression.
Authors' conclusions
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.