We present an 8-month-old boy with severe retinal detachment from familial exudative vitreoretinopathy (FZD4 exon 1 deletion). He was subsequently diagnosed with spinal muscular atrophy with SMN1 deletion. β-catenin signaling is dysregulated in both disorders, so we hypothesize that the co-occurrence may have exacerbated the vitreoretinal phenotype.
KashaniA.H.BrownK.T.ChangE.DrenserK.A.CaponeA.TreseM.T.. Diversity of retinal vascular anomalies in patients with familial exudative vitreoretinopathy. Ophthalmology.2014; 121: 2220–7.
2.
DrenserK.A.DaileyW.VinekarA.DalalK.CaponeA.Jr.TreseM.T.. Clinical presentation and genetic correlation of patients with mutations affecting the FZD4 gene. Arch Ophthalmol.2009; 127: 1649–54.
