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

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

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...

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Bibliographic Details
Main Authors: Khazeema Yousaf, Sadaf Naz, Asma Mushtaq, Elizabeth Wohler, Nara Sobreira, Bo-Man Ho, Li-Jia Chen, Wai-Kit Chu, Rasheeda Bashir
Format: Article
Language:English
Published: MDPI AG 2023-01-01
Series:Genes
Subjects:
congenital hereditary endothelial dystrophy
primary congenital glaucoma
intraocular pressure
Online Access:https://www.mdpi.com/2073-4425/14/2/310

Internet

https://www.mdpi.com/2073-4425/14/2/310

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