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Neonatal-Onset Congenital Ectropion Uveae May Be Caused by a Distinct CYP1B1 Pathologic Variant.
Kaushik Sushmita, Choudhary Sandeep, Kaur Anupriya, Srivastava Priyanka, Pokharel Bikrant, Akella Madhuri et al.
Am J OphthalmolJan 20220 citationsCohort Study
This study found that severe neonatal-onset congenital ectropion uveae (NO-CEU) is strongly linked to specific CYP1B1 gene variants, particularly c.1169G>A, guiding genetic testing and prognosis.