Transcriptome from opaque cornea of Fanconi anemia patient uncovers fibrosis and two connected players

Congenital corneal opacities (CCO) are a group of blinding corneal disorders, where the underlying molecular mechanisms are poorly understood. Phenotyping through specialized imaging and histopathology analysis, together with assessment of key transcriptomic changes (including glycosaminoglycan metabolic enzymes) in cornea(s) with CCO from a case of Fanconi anemia is the approach taken in this study to identify causal mechanisms. Based on our findings, we propose a novel mechanism and two key players contributing to CCO.

Automated summary

This study investigated the causal mechanisms of congenital corneal opacities (CCO) by phenotyping, histopathology analysis, and assessment of transcriptomic changes. A novel mechanism and two key players contributing to CCO were identified based on the findings.