Female-specific cone changes from Arr3-deficiency

Heterozygous variants in ARR3, encoding cone arrestin, have been identified to cause high myopia with a unique X-linked female limited inheritance but the potential mechanism for the unusual anti-X-linked pattern is still unclear. Arr3 expression profiles showed that Arr3, with significant expression in retina since P14, was almost co-stained with Opsin red/green in cones including some partially co-stained with both Opsin red/green and Opsin blue. And then Arr3 knock-in mice and Arr3 knock-out rats were generated. Retinal single-cell RNA sequencing was perform to reveal the changes of cone sub-clusters and the differentially expressed genes (DEGs) to explain the mechanism of ARR3-eoHM.