IOP-induced blood-retinal barrier compromise contributes to RGC death in glaucoma.

The integrity of the blood-retinal barrier (BRB) has been largely unexplored in glaucoma. We reveal that elevated intraocular pressure (IOP) partially compromises the BRB in two human-relevant inherited mouse models of glaucoma (DBA/2J and Lmx1bV265D). Experimentally increasing IOP in mouse eyes further confirms this.

Germline / Coding Variants Are Associated with Increased Risk of Myeloproliferative Neoplasms.

Familial cases of myeloproliferative neoplasms (MPN) are relatively common, yet few inherited risk factors have been identified. Exome sequencing of a kindred with a familial cancer syndrome characterized by both MPN and melanoma produced a germline variant in the gene that co-segregates with disease. To further investigate whether germline variants contribute to MPN predisposition, the frequency of variants was analyzed in 1604 cases that underwent evaluation for hematologic malignancy, including 236 cases of MPN.

Control of lens development by Lhx2-regulated neuroretinal FGFs.

Fibroblast growth factor (FGF) signaling is an essential regulator of lens epithelial cell proliferation and survival, as well as lens fiber cell differentiation. However, the identities of these FGF factors, their source tissue and the genes that regulate their synthesis are unknown. We have found that Chx10-Cre;Lhx2 mice, which selectively lack Lhx2 expression in neuroretina from E10.