Article

Antisense oligonucleotide allele-specific targeting of EFEMP1 in a patient-derived model of Doyne honeycomb retinal dystrophy

2025-07-19

Abstract excerpt

<h4>ABSTRACT</h4> Doyne honeycomb retinal dystrophy is an incurable juvenile macular dystrophy that leads to visual impairment by early to mid-adulthood. It is an autosomal dominant disorder caused by a c.1033C>T, p.Arg(345Trp) variant in EFEMP1 , and is characterised by the early onset extracellular deposition of drusen between the retinal pigment epithelium basement membrane and underlying layers of Bruch’s me...

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Literature Corpus work: 3e3a4208-96e3-5bd4-9e36-460527115b8e
DOI: 10.1101/2025.07.16.664883

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