2nd International Conference on Ophthalmology & Vision Science
August 04, 2025 | Virtual Event
Yuanping Hai
Southern Medical University,, China
Dysthyroid optic neuropathy (DON), the most severe complication of thyroid eye disease (TED),
lacks clear mechanisms and effective treatments. This study aimed to identify key pathways
and inflammation-related genes driving DON progression. Retro-orbital tissues from DON,
non-DON TED, and healthy controls were analyzed using bulk RNA sequencing. Differentially
expressed genes (DEGs) were identified and subjected to GO enrichment and weighted gene
co-expression network analysis (WGCNA). Immune cell infiltration was evaluated using single-
sample Gene Set Enrichment Analysis (ssGSEA), and core inflammatory genes were validated
by qPCR. Analysis revealed significant upregulation of inflammation- and fibrosis-related
genes in DON, including CXCL14, CCL21, HP, MGP, and FN1. GO and WGCNA analyses
highlighted immune activation and extracellular matrix remodeling. Key inflammatory-related
DEGs (IRDGs) such as CCL21, HP, and SLCO2A1 were strongly associated with immune
pathways. ssGSEA showed increased infiltration of activated B cells, CD4 T cells, mast cells,
and Th1 cells in DON tissues. Correlation analysis linked IRDGs with various immune cells,
notably activated B and regulatory T cells. qPCR confirmed upregulation of HP, TPSAB1, and
PLA2G2A in DON. This is the first study to identify the key molecular and immune drivers of
DON through bulk transcriptomic analysis, emphasizing the central role of inflammation-related
molecules and immune cell infiltration in its pathogenesis. The identified IRDGs and
their associated pathways provide novel insights for innovative diagnostic and therapeutic
strategies.
Yuanping Hai obtained his PhD degree in June 2022 from Johannes Gutenberg University Mainz, Germany, with
a research focus on Thyroid Eye Disease. He is currently a postdoctoral fellow at Southern Medical University,
China. He was awarded a Youth Project grant by the National Natural Science Foundation of China (NSFC) in
2023. Dr. Hai has published over 20 scientific papers, including 6 studies related to Thyroid Eye Disease as first
author, co-first author, or co-corresponding author.