Congenital PAX6-aniridia, initially characterized by the absence of the iris, has progressively
been shown to be associated with other developmental ocular abnormalities and systemic …

The ocular lens is a model system for understanding important aspects of embryonic
development, such as cell specification and the spatiotemporally controlled formation of a …

Purpose The RPE cell line ARPE-19 provides a dependable and widely used alternative to
native RPE. However, replication of the native RPE phenotype becomes more difficult …

There are currently no treatments for geographic atrophy, the advanced form of age-related
macular degeneration. Hence, innovative studies are needed to model this condition and …

Aniridia, a rare congenital disease, is often characterized by a progressive, pronounced
limbal insufficiency and ocular surface pathology termed aniridia-associated keratopathy …

This chapter provides an overview of the early developmental origins of six ocular tissues:
the cornea, lens, ciliary body, iris, neural retina, and retina pigment epithelium. Many of …

The DNA-binding transcription factor PAX6 was cloned 25 years ago by multiple teams
pursuing identification of human and mouse eye disease causing genes, cloning vertebrate …

Pluripotent stem cells (PSCs) are a potential replacement tissue source for degenerative
diseases. Age-related macular degeneration (AMD) is a blinding disease triggered by …

The genetic basis of human facial variation and craniofacial birth defects remains poorly
understood. Distant-acting transcriptional enhancers control the fine-tuned spatiotemporal …

Purpose Abnormalities in the limbal niche microenvironment have been suggested to be
causally involved in aniridia-associated keratopathy (AAK), but histological analyses on the …