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

• Record Type: Journal Article
• Authors: Mammo, Danny; Yonekawa, Yoshihiro; Thomas, Benjamin J.; Shah, Ankoor R.; Abbey, Ashkan M.; Trese, Michael T.; Drenser, Kimberly A.; Capone, Antonio
• Is Part Of: European journal of ophthalmology. Volume 25:Issue 6(2015)
• Page Start: e116
• Page End: e118
• Publication Date: 2015-12
• Subjects: Familial exudative vitreoretinopathy -- Genetics -- Pediatric ophthalmology -- Retina -- Spinal muscular atrophy; Ophthalmology -- Periodicals; Eye -- Diseases -- Periodicals; 617.7005
• DOI: 10.5301/ejo.5000639
• Languages: English
• ISSNs: 1120-6721

Abstract

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.