Abstract

AIM: To study various CYP1B1 genetic variants in a cohort of children with non-acquired glaucoma (NAG) and correlate them with phenotype and clinical outcomes
METHOD:NAG children who underwent genetic study and completed 6-month postop follow-up were included. We correlated CYP1B1 variants to the phenotype and outcome
RESULT:175 children were analysed. 72% harboured genetic variants, of which 77.8% matched the phenotype. Of these, 52 were CYP1B1. Among these, 34(65.4%) had the c.1169G>A(p.Arg390His) variant. All 25 children with homozygous c.1169G>A (p.Arg390His) variants and 5 with compound heterozygous variants had a common phenotype: neonatal-onset congenital ectropion uveae. 11/52(21.15%) children had c.1103G>A(p.Arg368His) variant and had better corneal clarity and favourable outcomes
CONCLUSION:We identified one uniformly poor prognosis variant and one variant with favorable prognosis. These findings provide valuable insights into the prognostic significance of CYP1B1 variants.

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