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

doi:10.5301/ejo.5000639

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 journal › Article

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 language	English (US)
Pages (from-to)	e116-8
Journal	European Journal of Ophthalmology
Volume	25
Issue number	6
DOIs	https://doi.org/10.5301/ejo.5000639
State	Published - 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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10.5301/ejo.5000639

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Association of autosomal dominant familial exudative vitreoretinopathy and spinal muscular atrophy. / Mammo, Danny; Yonekawa, Yoshihiro; Thomas, Benjamin J; Shah, Ankoor R; Abbey, Ashkan M; Trese, Michael T; Drenser, Kimberly A; Capone, Antonio.

In: European Journal of Ophthalmology, Vol. 25, No. 6, 21.10.2015, p. e116-8.

Research output: Contribution to journal › Article

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AU - Abbey, Ashkan M

AU - Trese, Michael T

AU - Drenser, Kimberly A

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KW - Fluorescein Angiography

KW - Frizzled Receptors

KW - Humans

KW - Infant

KW - Male

KW - Muscular Atrophy, Spinal

KW - Mutation

KW - Phenotype

KW - Polymerase Chain Reaction

KW - Retinal Detachment

KW - Retinal Diseases

KW - Survival of Motor Neuron 1 Protein

KW - Case Reports

KW - Journal Article

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