Article
Molecular characterization of CHST6 in Egyptian families with macular corneal dystrophy reveals recurrent and novel variants.
Ophthalmic genetics - 1 Jun 2026
Kenawy Amin Asmaa, Mahmoud Shahira, Goweida Mohamed Bahgat, Ghazy Asmaa Eisa, Jedlickova Jana, Dudakova Lubica, Liskova Petra
Abstract excerpt
PURPOSE: The study aimed to identify pathogenic variants in the CHST6 gene in a cohort of Egyptian patients diagnosed with macular corneal dystrophy (MCD). METHODS: Sanger sequencing of the CHST6 gene was performed in 16 individuals affected by MCD from nine unrelated Egyptian families, as well as in their available first-degree relatives. Surgical management data for affected individuals were also collected....
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