title: Association of autosomal dominant familial exudative vitreoretinopathy and spinal muscular atrophy.
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.
authors.affiliation: Associated Retinal Consultants, Oakland University William Beaumont School of Medicine, Royal Oak, MI - USA.
authors.forename: Danny
authors.initials: D
authors.lastname: Mammo
authors.affiliation: Associated Retinal Consultants, Oakland University William Beaumont School of Medicine, Royal Oak, MI - USA.
authors.forename: Yoshihiro
authors.initials: Y
authors.lastname: Yonekawa
authors.affiliation: Associated Retinal Consultants, Oakland University William Beaumont School of Medicine, Royal Oak, MI - USA.
authors.forename: Benjamin J
authors.initials: BJ
authors.lastname: Thomas
authors.affiliation: Associated Retinal Consultants, Oakland University William Beaumont School of Medicine, Royal Oak, MI - USA.
authors.forename: Ankoor R
authors.initials: AR
authors.lastname: Shah
authors.affiliation: Associated Retinal Consultants, Oakland University William Beaumont School of Medicine, Royal Oak, MI - USA.
authors.forename: Ashkan M
authors.initials: AM
authors.lastname: Abbey
authors.affiliation: Associated Retinal Consultants, Oakland University William Beaumont School of Medicine, Royal Oak, MI - USA.
authors.forename: Michael T
authors.initials: MT
authors.lastname: Trese
authors.affiliation: Associated Retinal Consultants, Oakland University William Beaumont School of Medicine, Royal Oak, MI - USA.
authors.forename: Kimberly A
authors.initials: KA
authors.lastname: Drenser
authors.affiliation: Associated Retinal Consultants, Oakland University William Beaumont School of Medicine, Royal Oak, MI - USA.
authors.forename: Antonio
authors.initials: A
authors.lastname: Capone
mesh_terms: D005091:Exons; D015785:Eye Diseases, Hereditary; D000080345:Familial Exudative Vitreoretinopathies; D005451:Fluorescein Angiography; D051157:Frizzled Receptors / Q000235:genetics; D006801:Humans; D007223:Infant; D008297:Male; D009134:Muscular Atrophy, Spinal / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D009154:Mutation; D010641:Phenotype; D016133:Polymerase Chain Reaction; D012163:Retinal Detachment / Q000175:diagnosis / Q000209:etiology; D012164:Retinal Diseases / Q000150:complications / Q000175:diagnosis / Q000235:genetics; D055533:Survival of Motor Neuron 1 Protein / Q000235:genetics
chemical_list: C402930:FZD4 protein, human; D051157:Frizzled Receptors; C526471:SMN1 protein, human; D055533:Survival of Motor Neuron 1 Protein