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Uveal Effusion Syndrome Due to WNT10A Mutation
Gazal Patnaik1, Sujatha Jagadeesh2, Muna Bhende3
1Department of Uvea, Medical Retina and Cataract Services, Medical and Vision Research Foundations, Sankara Nethralaya, Kolkata, India.
Ocular Immunology and Inflammation
|October 15, 2024
Summary
Uveal effusion syndrome (UES) can be triggered by Wnt gene dysfunction, a previously unrecognized cause. This case highlights the importance of genetic evaluation for diagnosing challenging UES cases.
Area of Science:
- Ophthalmology
- Genetics
Background:
- Uveal effusion syndrome (UES) involves exudative detachment of ocular tissues.
- Known causes include medications, inflammation, and hypotony, but Wnt gene involvement was previously unestablished.
Observation:
- A 32-year-old male presented with bilateral vision loss and was initially misdiagnosed with Vogt-Koyanagi-Harada (VKH) syndrome.
- Ocular imaging revealed choroidal and retinal detachment, with ultrasound biomicroscopy showing supraciliary effusion.
Findings:
- Genetic evaluation identified a Wnt10A pathway mutation as the underlying cause of UES in this patient.
- This represents the first reported case of bilateral UES associated with a Wnt10A gene mutation.
Implications:
- UES diagnosis can be challenging, necessitating comprehensive systemic and genetic evaluation.
- Identifying Wnt gene dysfunction as a UES trigger expands understanding of the syndrome's etiology.
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