Association of Autosomal Dominant Familial Exudative Vitreoretinopathy and Spinal Muscular Atrophy. Issue 6 (December 2015) - Mammo, Danny
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.