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) |
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Pages (from-to) | e116-8 |
Journal | European Journal of Ophthalmology |
Volume | 25 |
Issue number | 6 |
DOIs | |
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