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Razek Georges Coussa, Yue Zhao, Meghan J DeBenedictis, Allison Babiuch, Jonathan E Sears, Elias I Traboulsi; Novel mutation in CTNNB1 causing familial exudative vitreoretinopathy and microcephaly. Invest. Ophthalmol. Vis. Sci. 2019;60(9):2947.
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© ARVO (1962-2015); The Authors (2016-present)
Neonatal retinal folds and/or vitreoretinal traction can be a sign of isolated ocular or syndromic disorders. Etiologies include retinopathy of prematurity, congenital infections or inherited vitreoretinal disorders such as familial exudative retinopathy (FEVR) or Norrie disease. We present the clinical and genetic findings in a 2 month-old infant with microcephaly and FEVR, who required urgent and early surgical interventions.
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.
External examination at 2 month-old demonstrated microcephaly with a head circumference less than the 5th centile. The anterior segment exam was normal OU. Dilated fundus exam showed bilateral macular folds extending from the disc to the temporal periphery involving the foveae. OD macular fold had completely appositional retina. OS fold was broader with subretinal fluid. FA demonstrated vascular arrest OU most notably nasally. Indirect laser was applied to ischemic retina OU. Immediate sequential scleral buckles were performed OU. A 25g vitrectomy was performed OS to separate the posterior hyaloid to facilitate complete vitrectomy. With a scleral buckle/112 extender placed temporally, a 41g cannula was used to detach the OS macula to allow retinal reattachment. Exam at 1 month following surgery demonstrated stable fundus exam, with a dry falciform fold present OD and attached retina with broader more open fold OS. Genetic testing revealed a novel dominant heterozygous c.2046_2047del [p.Phe683Glnfs*9] mutation in CTNNB1 predicted to result in a frameshift causing a truncated protein.
CTNNB1 is expressed in multiple tissues and codes for catenin-beta1 protein, which has dual functions of regulating E-cadherin-mediated cell-cell adhesion and as a cofactor to T cell factor-lymphoid enhancer factor family in the Wnt signaling pathway. CTNNB1 mutations have been associated with intellectual disability and autism-spectrum disorder without FEVR, non-syndromic FEVR, and FEVR with microcephaly and intellectual disability.
This abstract was presented at the 2019 ARVO Annual Meeting, held in Vancouver, Canada, April 28 - May 2, 2019.
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