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  • Title: Syndromic microphthalmia-3 caused by a mutation on gene SOX2 in a Colombian male patient.
    Author: Ramirez-Botero AF, Pachajoa H.
    Journal: Congenit Anom (Kyoto); 2016 Nov; 56(6):250-252. PubMed ID: 27206652.
    Abstract:
    Syndromic microphthalmia-3 is a rare congenital syndrome associated with brain anomalies, esophageal atresia and genital anomalies. This is the case of a 4-year-old male with bilateral microphthalmia, short stature, neurodevelopmental delay, genital anomalies, and maternal exposition to glyphosate during pregnancy. Genetic testing detected a previously reported pathogenic heterozygous mutation in the SOX2 gene, confirming a diagnosis of syndromic microphthalmia-3. Whenever a patient presents bilateral microphthalmia, it is necessary to determine whether it is isolated or syndromic; afterwards, genetic testing should be performed in order to offer an effective genetic counseling.
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