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

Alexandra Ruiz GuijosaLaura Morales FernándezJosé María Martínez de la CasaJulio EscribanoJulián García Feijoo

Published in: Ophthalmic genetics (2024)

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.

Keyphrases

copy number
early onset
genome wide
intellectual disability
optic nerve
gene expression
autism spectrum disorder
dna methylation