Abstract
Ocular anterior segment dysgenesis (ASD) is a failure of normal development of anterior structures of the eye, leading to lens opacification. The underlying mechanisms relating to ASD are still unclear. Previous studies have implicated transcriptional factor muscle segment homeobox 2 (Msx2) in ASD. In this study, we used Msx2 conditional knockout (CKO) mice as a model and found that Msx2 deficiency in surface ectoderm induced ASD. Loss of Msx2 function specifically affected lens development, while other eye structures were not significantly affected. Multiple lines of evidence show that calcium signaling pathways are involved in this pathogenesis. Our study demonstrates that Msx2 plays an essential role in lens development by activating a yet undetermined calcium signaling pathway.
Highlights
Ocular anterior segment dysgenesis (ASD) describes a spectrum of clinically and genetically heterogeneous congenital disorders affecting anterior structures including the cornea, iris, lens, ciliary body and ocular drainage structures that often lead to impaired vision
Morphological analysis revealed abnormal eye development characterized by eye socket depression, small eye, lack of eyelashes and narrow palpebral fissure in muscle segment homeobox 2 (Msx2) conditional knockout (CKO) mice (Fig. 1A) but not in Msx2 control mice (Msx2 floxed only; Fig. 1B) and Le-Cre heterozygous transgene mice (Fig S1) at postnatal day 60 (P60)
To more precisely quantify the abnormality of lens development induced by Msx2 CKO, lens wet weight was compared between Msx2 CKO and control mice at P60
Summary
Ocular anterior segment dysgenesis (ASD) describes a spectrum of clinically and genetically heterogeneous congenital disorders affecting anterior structures including the cornea, iris, lens, ciliary body and ocular drainage structures that often lead to impaired vision. Clinical manifestations of ASD are variable and include corneal opacities, cataracts, iris hypoplasia and iridocorneal adhesions. ASD is associated with extraocular defects [1]. These authors contributed : Wenting Yu, Ziyan Yu
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