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

In this study, we identified a family with congenital hereditary endothelial dystrophy (CHED2), which may be misdiagnosed as primary congenital glaucoma (PCG) due to similar clinical phenotypes during early infancy.… Read More »Exome Sequencing Reveals SLC4A11 Variant Underlying Congenital Hereditary Endothelial Dystrophy (CHED2) Misdiagnosed as Congenital Glaucoma