Kaur Anupriya

Neonatal-Onset Congenital Ectropion Uveae May Be Caused by a Distinct CYP1B1 Pathologic Variant.

NO-CEU appears to be a phenotypic marker for specific CYP1B1 genotypes, one of which is [c.1169G>A(p.Arg390His)] in our study population. Phenotype recognition is helpful to characterize the underlying genetic variants.

Brittle Cornea Syndrome Type 1 in Siblings: Severe Presentation in One and Misdiagnosis as Primary Congenital Glaucoma in the Other.

These cases highlight the variability in BCS presentations, the risk of misdiagnosis as glaucoma, and the importance of early genetic testing and protective measures.