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Human Corneal Expression of SLC4A11, a Gene Mutated in Endothelial Corneal Dystrophies

4 Jul 2019

Abstract excerpt

Two blinding corneal dystrophies, pediatric-onset congenital hereditary endothelial dystrophy (CHED) and some cases of late-onset Fuchs endothelial corneal dystrophy (FECD), are caused by SLC4A11 mutations. Three N-terminal SLC4A11 variants: v1, v2 and v3 are expressed in humans. We set out to determine which of these transcripts and what translated products, are present in corneal endothelium as these would be...

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PMID: 31273259
DOI: 10.1038/s41598-019-46094-y

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