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Compound heterozygous mutations in the SLC4A11 gene associated with congenital hereditary endothelial dystrophy in a Chinese family.

Ophthalmic genetics - 1 Aug 2022

Liu Min, Xia Jia-Li, Yang Hong, Yu Ling

Abstract excerpt

BACKGROUND: In this case report, we have described congenital inherited endothelial dystrophy (CHED) caused by two heterozygous missense mutations in two patients. METHODS: A Chinese family affected by CHED was recruited to identify potential genetic mutations. The proband developed bilateral corneal opacity after birth, and was diagnosed with CHED based on the clinical manifestations. Her younger sister had the...

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PMID: 35291925
DOI: 10.1080/13816810.2022.2051192

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