During development of the anterior eye segment, cells that originate from the surface epithelium or the neuroepithelium need to interact with mesenchymal cells, which predominantly originate from the neural crest. Failures of proper interaction result in a complex of developmental disorders such Peters' anomaly, Axenfeld-Rieger's syndrome or aniridia. Here we review the role of transcription fa...

PURPOSE To describe a Chinese family with Axenfeld-Rieger syndrome (ARS) and report our novel genetic findings. METHODS Nine members of the same family underwent complete ophthalmologic examinations and genetic analysis. Genomic DNA was isolated from veinal blood and amplifed using PCR; the products of PCR were sequenced and compared with FOXC1 and PITX2 genes, from which the mutations were f...

NEW blood vessels appear on the disc in many ocular conditions, but their appearance in glaucoma is infrequent. Duke-Elder (1940) describes the formation of new blood vessels on the retina and the optic disc due to glaucoma as comnmon, and cites several references from the older literature (Von Graefe, 1854; Hormuth, 1903; Bloch, 1906; Axenfeld, 1911; Kraupa, 1915). Fuchs (1951) also mentions t...

The leucine-rich repeat-containing G protein-coupled receptor 4 (LGR4, also called GPR48) plays a key role in multiple developmental processes, and mice lacking Lgr4 display anterior segment dysgenesis leading to early-onset glaucomatous retinal ganglion cell loss as well as defective eyelid formation. This paper will review Lgr4 signaling and its regulation of the Axenfeld-Rieger syndrome gene...