Association of autosomal dominant familial exudative vitreoretinopathy and spinal muscular atrophy

Danny Mammo, Yoshihiro Yonekawa, Benjamin J Thomas, Ankoor R Shah, Ashkan M Abbey, Michael T Trese, Kimberly A Drenser, Antonio Capone

Research output: Contribution to journalArticle

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.

Original languageEnglish (US)
Pages (from-to)e116-8
JournalEuropean Journal of Ophthalmology
Volume25
Issue number6
DOIs
StatePublished - Oct 21 2015

Keywords

  • Exons
  • Fluorescein Angiography
  • Frizzled Receptors
  • Humans
  • Infant
  • Male
  • Muscular Atrophy, Spinal
  • Mutation
  • Phenotype
  • Polymerase Chain Reaction
  • Retinal Detachment
  • Retinal Diseases
  • Survival of Motor Neuron 1 Protein
  • Case Reports
  • Journal Article
  • Research Support, Non-U.S. Gov't

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