Primary congenital glaucoma in two siblings with different compound heterozygous CYP1B1 genotypes

CONCLUSIONS: The sisters were found to show two different allelic CYP1B1 variants (compound heterozygosis) with different repercussions on the clinical severity of PCG. These findings highlight the importance of genetic screening of affected families.PMID:38450436 | DOI:10.1080/13816810.2024.2324044

Source: Ophthalmic Genetics - March 7, 2024 Category: Opthalmology Authors: Alexandra Ruiz Guijosa Laura Fern ández Morales Jos é María Martínez de la Casa Julio Escribano Juli án García Feijoo Source Type: research