AUTHOR=Tian Yu , Wu Xiaochuan , Li Yongzhen , He Wenbin , Liu Zibin , Myers Frank L. , Zhou Liang 

TITLE=Case report: Unilateral panuveitis as a manifestation of Alport syndrome in a Chinese pediatric patient

JOURNAL=Frontiers in Genetics

VOLUME=13

YEAR=2022

URL=https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2022.934829

DOI=10.3389/fgene.2022.934829

ISSN=1664-8021

ABSTRACT=<p><bold>Purpose:</bold> 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.</p><p><bold>Methods:</bold> A case report.</p><p><bold>Results:</bold> 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 <italic>COL4A5</italic> and exons 1 and 2 of <italic>COL4A6</italic>. The uveitis resolved gradually, following the administration of oral steroids.</p><p><bold>Conclusion:</bold> Uveitis may be an ocular manifestation of Alport syndrome.</p>