This work identifies APLP2 as one of the "missing" myopia genes, demonstrating the importance of a low-frequency gene variant in the development of human myopia.
Tkatchenko and colleagues applied a systematic approach using a combination of gene set enrichment analysis, genome-wide association studies, and functional analysis of a murine model to identify a myopia susceptibility gene, APLP2.
AQP-1 protein expression was significantly associated with CT (<i>p</i> = .001) in all groups; however, there was a significant negative correlation (<i>p</i> = .029) between AQP-1 protein expression and axial length in the REC groups.<b>Conclusions</b>: AQP-1 protein expression in the choroid was upregulated following recovery of FD myopia in guinea pigs, and these changes correlated with alterations in CT and axial length.
In mice, retinal-specific knockout of the clock gene Bmal1 induces myopia and elongates the vitreous chamber, the optical compartment separating the lens and the retina.