Article
CTNNB1 gene mutation associated with neurodevelopmental disorder, microcephaly, and persistence of bilateral hyperplastic primary vitreous: A case report and literature review.
Archivos de la Sociedad Espanola de Oftalmologia - 1 Jan 2022
Zuluaga Gómez L M, Caballero Mojica S C, Vélez Rengifo G J, Bravo Acosta J D, Montoya Villada J H
Abstract excerpt
The most cases of persistence hyperplastic primary vitreous (PHPV) are unilateral and sporadic, however, bilateral presentation could be present in a small number of patients, in whom other genetic diseases must be ruled out. We describe a case of a 2 months child with bilateral persistence hyperplastic primary vitreous confirmed by ultrasound. In addition, with neurodevelopmental defects, microcephaly, facial...
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