Lens tissue transcriptome analysis in patients with total congenital cataract.

BACKGROUND

Total congenital cataract (TCC), a leading cause of childhood visual impairment. We analyzed transcriptome profiles of lens epithelial cells (LECs) and lens fiber cells (LFCs) in pediatric patients with TCC to identify differentially expressed genes (DEGs) and potential pathogenic pathways.

RESULTS

In LECs, 1,645 DEGs were identified, enriched in structural constituents of the eye lens extracellular matrix component and extracellular matrix organization. LFCs exhibited 2,708 DEGs, enriched in SRP-dependent cotranslational protein targeting to membrane, protein targeting to ER, and cotranslational protein targeting to membrane. Cross-referencing with iSyTE2.0 highlighted HOPX, SUSD2, SH3BGR, BIRC7, and GSS as top candidates. All five candidate genes were significantly downregulated in both LECs and LFCs that were lens-enriched genes during embryonic development.

CONCLUSIONS

This study reveals distinct transcriptomic profiles in LECs and LFCs of TCC patients, implicating novel genes in lens development, oxidative stress, and apoptosis.