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Exome Sequencing Reveals SLC4A11 Variant Underlying Congenital Hereditary Endothelial Dystrophy (CHED2) Misdiagnosed as Congenital Glaucoma.

Genes - 25 Jan 2023

Yousaf Khazeema, Naz Sadaf, Mushtaq Asma, Wohler Elizabeth, Sobreira Nara, Ho Bo-Man, Chen Li-Jia, Chu Wai-Kit, Bashir Rasheeda

Abstract excerpt

Autosomal recessive congenital hereditary endothelial dystrophy (CHED2) may be misdiagnosed as primary congenital glaucoma (PCG) due to similar clinical phenotypes during early infancy. In this study, we identified a family with CHED2, which was previously misdiagnosed as having PCG, and followed up for 9 years. Linkage analysis was first completed in eight PCG-affected families, followed by whole-exome...

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Identifiers

PMID: 36833236
DOI: 10.3390/genes14020310
PMCID: PMC9956413

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