The molecular mechanism responsible for HbSC retinopathy may depend on the action of angiogenesis-related genes ROBO1 and SLC38A5.
Purpose: HbSC disease, a less severe form of sickle cell disease, affects the retina more frequently and patients have higher rates of proliferative retinopathy that can progress to vision loss. This study aimed to identify differences in the expression of endothelial cell-derived molecules associated with pathophysiology of proliferative sickle cell retinopathy (PSCR). Overall design: mRNA sequencing (RNAseq) was used to compare the gene expression profile of circulating endothelial colony-forming cells from patients with SC hemoglobinopathy and proliferative retinopathy (n=5), versus SC patients without retinopathy (n=3).