Association of autosomal dominant familial exudative vitreoretinopathy and spinal muscular atrophy

作者：Mammo Danny; Yonekawa Yoshihiro; Thomas Benjamin J; Shah Ankoor R; Abbey Ashkan M; Trese Michael T; Drenser Kimberly A; Capone Antonio Jr^*

来源：European Journal of Ophthalmology, 2015, 25(6): E116-E118.

DOI：10.5301/ejo.5000639

• Familial exudative vitreoretinopathy
• Genetics
• Pediatric ophthalmology
• Retina
• Spinal muscular atrophy

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. beta-catenin signaling is dysregulated in both disorders, so we hypothesize that the co-occurrence may have exacerbated the vitreoretinal phenotype.

• 出版日期2015-12