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

Eur J Ophthalmol. 2015 Oct 21;25(6):e116-8. doi: 10.5301/ejo.5000639.

Authors

Danny Mammo¹, Yoshihiro Yonekawa¹, Benjamin J Thomas¹, Ankoor R Shah¹, Ashkan M Abbey¹, Michael T Trese¹, Kimberly A Drenser¹, Antonio Capone¹

Affiliation

¹ Associated Retinal Consultants, Oakland University William Beaumont School of Medicine, Royal Oak, MI - USA.

PMID: 26109022
DOI: 10.5301/ejo.5000639

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.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Exons
Eye Diseases, Hereditary
Familial Exudative Vitreoretinopathies
Fluorescein Angiography
Frizzled Receptors / genetics
Humans
Infant
Male
Muscular Atrophy, Spinal / complications*
Muscular Atrophy, Spinal / diagnosis
Muscular Atrophy, Spinal / genetics
Mutation
Phenotype
Polymerase Chain Reaction
Retinal Detachment / diagnosis
Retinal Detachment / etiology
Retinal Diseases / complications
Retinal Diseases / diagnosis
Retinal Diseases / genetics
Survival of Motor Neuron 1 Protein / genetics

Substances

FZD4 protein, human
Frizzled Receptors
SMN1 protein, human
Survival of Motor Neuron 1 Protein