Prenatal Ultrasonographic Detection of Bilateral Congenital Cataracts With Concurrent Mosaic Turner Syndrome: A Case Report.
Cagseli Goksu Ozgun Selcuk, Filiz Yarsilikal Guleroglu
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Case in brief
A woman with a history of cataracts presented for prenatal ultrasound at 22 weeks gestation, where bilateral congenital cataracts were detected. The ultrasound showed asymmetric lens opacities, leading to genetic testing that identified a likely pathogenic variant in the BCOR gene. Postnatally, the infant was found to have mosaic Turner syndrome. Successful bilateral cataract extraction was performed at 1 month of age.
What made this case unusual
The concurrent diagnosis of mosaic Turner syndrome alongside bilateral congenital cataracts is a rare association, making this case noteworthy.
Diagnostic / clinical pearl
This case underscores the importance of thorough genetic evaluation in prenatal diagnoses of ocular anomalies, as it may reveal concurrent genetic conditions.
Why it matters
Recognizing dual molecular diagnoses can enhance understanding of complex genetic presentations and inform management strategies in clinical genetics.