%0 Case Reports
%T CTNNB1 gene mutation associated with neurodevelopmental disorder, microcephaly, and persistence of bilateral hyperplastic primary vítreous: a case report and literature review.
%A Zuluaga Gómez LM
%A Caballero Mojica SC
%A Vélez Rengifo GJ
%A Bravo Acosta JD
%A Montoya Villada JH
%J Arch Soc Esp Oftalmol (Engl Ed)
%V 0
%N 0
%D Feb 2021 6
%M 33563475
暂无%R 10.1016/j.oftal.2020.11.028
%X The most cases of persistence hyperplastic primary vítreous (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 vítreous confirmed by ultrasound. In addition, with neurodevelopmental defects, microcephaly, facial dimorphism, axial hypotonia, and without brain abnormalities on MRI, in whom a de novo mutation of the CTNNB1 gene was found during the genetic study, which explains the findings.