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 › peer-review

3 Scopus citations

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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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.",

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",

author = "Danny Mammo and Yoshihiro Yonekawa and Thomas, {Benjamin J} and Shah, {Ankoor R} and Abbey, {Ashkan M} and Trese, {Michael T} and Drenser, {Kimberly A} and Antonio Capone",

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doi = "10.5301/ejo.5000639",

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T1 - Association of autosomal dominant familial exudative vitreoretinopathy and spinal muscular atrophy

AU - Mammo, Danny

AU - Yonekawa, Yoshihiro

AU - Thomas, Benjamin J

AU - Shah, Ankoor R

AU - Abbey, Ashkan M

AU - Trese, Michael T

AU - Drenser, Kimberly A

AU - Capone, Antonio

PY - 2015/10/21

Y1 - 2015/10/21

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AB - 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.

KW - Exons

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

KW - Research Support, Non-U.S. Gov't

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DO - 10.5301/ejo.5000639

M3 - Article

C2 - 26109022

SN - 1120-6721

VL - 25

SP - e116-8

JO - European Journal of Ophthalmology

JF - European Journal of Ophthalmology

IS - 6

ER -

Association of autosomal dominant familial exudative vitreoretinopathy and spinal muscular atrophy

Abstract

Keywords

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