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Novel mutation in CTNNB1 causes familial exudative vitreoretinopathy (FEVR) and microcephaly: case report and review of the literature by Razek Georges Coussa; Yue Zhao; Meghan J. DeBenedictis; Allison Babiuch; Jonathan Sears; Elias I. Traboulsi is a scholarly article available to read on EtoBox.

What is Novel mutation in CTNNB1 causes familial exudative vitreoretinopathy (FEVR) and microcephaly: case report and review of the literature about?

Purpose: Neonatal retinal folds and/or vitreoretinal traction can be signs of isolated ocular or syndromic disorders. Etiologies include retinopathy of prematurity, perinatal infections or inherited vitreoretinal disorders such as familial exudative vitreoretinopathy (FEVR) or Norrie disease. We present the clinical and genetic findings of a two-month-old infant with microcephaly, mild motor developmental delay, and FEVR, who required urgent surgical interventions. Methods: The patient underwent an initial examination under anesthesia (EUA) with fluorescein angiography (FA) and subsequent medical and surgical treatments. Genetic testing was undertaken to identify the etiology. Results: Examination at 2 months of age demonstrated microcephaly with a head circumference smaller than the 1st percentile. Family history was negative for microcephaly or retinal disease. Anterior segment eye exam was normal OU. There were bilateral macular folds involving the fovea and extending from the disc to the temporal periphery. FA demonstrated bilateral incomplete vascularization of the retina most notable nasally. Indirect laser was applied to ischemic retina OU. Scleral buckling procedures were p

Author

Razek Georges Coussa; Yue Zhao; Meghan J. DeBenedictis; Allison Babiuch; Jonathan Sears; Elias I. Traboulsi

Publisher

Informa plc; Informa UK (Taylor & Francis); Taylor & Francis; Swets & Zeitlinger Publishers; Informa UK Limited (ISSN 1381-6810)

Published

2020

Language

EN