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Start Over Descriptor "Rieger" Topic glaucoma
2 results on '"Rieger"'

1. Molecular and developmental mechanisms of anterior segment dysgenesis.

Author

Sowden, J. C.

Subjects
*ANTERIOR eye segment, *GLAUCOMA, *EYE diseases, *CELL differentiation, *NEURAL crest
Abstract

Anterior segment dysgenesis (ASD) is a failure of the normal development of the tissues of the anterior segment of the eye. It leads to anomalies in the structure of the mature anterior segment, associated with an increased risk of glaucoma and corneal opacity. Several different gene mutations have been identified underlying these anomalies with the majority of ASD genes encoding transcriptional regulators. In this review, the role of the ASD genes, PITX2 and FOXC1, is considered in relation to the embryology of the anterior segment, the biochemical function of these proteins, and their role in development and disease aetiology. The emerging view is that these genes act in concert to specify a population of mesenchymal progenitor cells, mainly of neural crest origin, as they migrate anteriorly around the embryonic optic cup. These same genes then regulate mesenchymal cell differentiation to give rise to distinct anterior segment tissues. Development appears critically sensitive to gene dosage, and variation in the normal level of transcription factor activity causes a range of anterior segment anomalies. Interplay between PITX2 and FOXC1 in the development of different anterior segment tissues may partly explain the phenotypic variability and the genetic heterogeneity characteristic of ASD.Eye (2007) 21, 1310–1318. doi:10.1038/sj.eye.6702852 [ABSTRACT FROM AUTHOR]

Published
2007
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2. Current molecular understanding of Axenfeld–Rieger syndrome

Author

Elena V. Semina and Tord A. Hjalt

Subjects
congenital, hereditary, and neonatal diseases and abnormalities, Axenfeld–Rieger, Biology, stomatognathic system, Rieger, Abdomen, Animals, Humans, Protein Isoforms, Eye Abnormalities, PITX2, Molecular Biology, Gene, Homeodomain Proteins, Genetics, PAX6, Tooth Abnormalities, Syndrome, Basic Medicine, Phenotype, Penetrance, eye diseases, stomatognathic diseases, glaucoma, PITX2 Gene, Molecular Medicine, Homeobox, Eye disorder, FOXC1, sense organs, Transcription Factors
Abstract

Axenfeld–Rieger syndrome (ARS) is a rare autosomal dominant inherited disorder affecting the development of the eyes, teeth and abdomen. The syndrome is characterised by complete penetrance but variable expressivity. The ocular component of the ARS phenotype has acquired most clinical attention and has been dissected into a spectrum of developmental eye disorders, of which open-angle glaucoma represents the main challenge in terms of treatment. Mutations in several chromosomal loci have been implicated in ARS, including PITX2, FOXC1 and PAX6. Full-spectrum ARS is caused primarily by mutations in the PITX2 gene. The homeobox transcription factor PITX2 is produced as at least four different transcriptional and splicing isoforms, with different biological properties. Intriguingly, PITX2 is also involved in left–right polarity determination, although asymmetry defects are not a feature of ARS. In experimental animal models and in cell culture experiments using PITX2, abundant evidence indicates that a narrow window of expression level of this gene is vital for its correct function.

Published
2005

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