Frontiers in Genetics (Nov 2022)
Case report: Unilateral panuveitis as a manifestation of Alport syndrome in a Chinese pediatric patient
Abstract
Purpose: The study aimed to report a rare case of a patient with Alport syndrome, which was manifested as unilateral non-infectious uveitis after bilateral cataract surgery.Methods: A case report.Results: A 2-year-old boy was diagnosed with unilateral panuveitis based on the clinical and multimodal imaging findings. Intraocular fluid samples for metagenomic next-generation sequencing (mNGS) and microbial culture were negative. However, urine tests found proteinuria and microscopic hematuria. Pathologic findings of the kidney revealed a thickened membrane, and a diagnosis of Alport syndrome was considered. Gene analysis found deletions in exon 1 of COL4A5 and exons 1 and 2 of COL4A6. The uveitis resolved gradually, following the administration of oral steroids.Conclusion: Uveitis may be an ocular manifestation of Alport syndrome.
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