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Coats-like Retinopathy Associated With 18p Deletion Syndrome.
Jeremia E Williams1, Franco M Recchia2
1Vanderbilt University School of Medicine.
Ophthalmic Surgery, Lasers & Imaging Retina
|August 11, 2025
Summary
This study reports a rare link between 18p deletion syndrome and Coats-like retinopathy in a child. Overexpression of the DUX4 gene may explain this association, suggesting a broader spectrum of DUX4-related conditions.
Area of Science:
- Ophthalmology
- Genetics
- Pediatrics
Background:
- 18p deletion syndrome is a chromosomal disorder associated with various health issues.
- Coats disease is an idiopathic retinal vascular disorder characterized by telangiectasias and exudation.
- A potential link between 18p deletion syndrome and Coats-like retinopathy has not been well-established.
Purpose of the Study:
- To describe a novel case of Coats-like retinopathy in a patient with 18p deletion syndrome.
- To propose a pathogenic mechanism for this association.
- To investigate the role of DUX4 gene overexpression.
Main Methods:
- Case report of a 4-year-old boy with 18p deletion syndrome presenting with vision loss.
- Ophthalmic examination including fluorescein angiography.
- Treatment with indirect laser panretinal photocoagulation.
- Genetic analysis to assess DUX4 gene expression.
Main Results:
- The patient exhibited features of Coats-like retinopathy, including lipid exudate and retinal detachment.
- Fluorescein angiography revealed peripheral capillary nonperfusion, telangiectasias, and exudation.
- Treatment resulted in stable visual acuity and resolution of exudation over 6 years.
- A pathogenic mechanism involving DUX4 gene overexpression secondary to 18p deletion was proposed.
Conclusions:
- This case highlights a novel association between 18p deletion syndrome and Coats-like retinopathy.
- DUX4 gene overexpression is a potential mechanism linking these conditions.
- DUX4 overexpression may contribute to a spectrum of ocular findings, including exudative retinopathy, even without systemic facioscapulohumeral muscular dystrophy.
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