Notch signaling in the pigmented epithelium of the anterior eye segment promotes ciliary body development at the expense of iris formation.

[aniridia]

The ciliary body and iris are pigmented epithelial structures in the anterior eye segment that function to maintain correct intra-ocular pressure and regulate exposure of the internal eye structures to light , respectively . The cellular and molecular factors that mediate the development of the ciliary body and iris from the ocular pigmented epithelium remain to be fully elucidated . Here , we have investigated the role of Notch signaling during the development of the anterior pigmented epithelium by using genetic loss - and gain-of-function approaches . Loss of canonical Notch signaling results in normal iris development but absence of the ciliary body . This causes progressive hypotony and over time leads to phthisis bulbi , a condition characterized by shrinkage of the eye and loss of structure /function . Conversely , Notch gain-of-function results in aniridia and profound ciliary body hyperplasia , which causes ocular hypertension and glaucoma -like disease . Collectively , these data indicate that Notch signaling promotes ciliary body development at the expense of iris formation and reveals novel animal models of human ocular pathologies .

Diseases
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Diseases presenting "loss of structure/function" symptom

aniridia

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