Articles with "fundus dystrophy" as a keyword



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Sorsby fundus dystrophy (SFD): A narrative review

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Published in 2022 at "Medicine"

DOI: 10.1097/md.0000000000030595

Abstract: Sorsby fundus dystrophy (SFD) is a rare autosomal dominant disorder with complete penetrance affecting the macula. This is caused by a mutation in the TIMP-3. This objective narrative review aims to provide an overview of… read more here.

Keywords: narrative review; sorsby fundus; dystrophy sfd; fundus dystrophy ... See more keywords
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Potential CRISPR Base Editing Therapeutic Options in a Sorsby Fundus Dystrophy Patient

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Published in 2022 at "Genes"

DOI: 10.3390/genes13112103

Abstract: TIMP3 mutations are associated with early-onset macular choroidal neovascularisation for which no treatment currently exists. CRISPR base editing, with its ability to irreversibly correct point mutations by chemical modification of nucleobases at DNA level, may… read more here.

Keywords: sorsby fundus; crispr base; fundus dystrophy; base editing ... See more keywords