Reduced human and murine corneal thickness in an Axenfeld-Rieger syndrome subtype.

Reduced human and murine corneal thickness in an Axenfeld-Rieger syndrome subtype. Research Abstract Details 

Research Abstract Table of Contents

Jump to the:

Reduced human and murine corneal thickness in an Axenfeld-Rieger syndrome subtype. Abstract Text:

Mika Asai-Coakwell,Christopher Backhouse,Ronald J Casey,Philip J Gage,Ordan J Lehmann,

PURPOSE: Axenfeld-Rieger malformations of the anterior segment are clinically heterogeneous, and up to 50% of cases are attributable to PITX2 or FOXC1 mutation. In view of PITX2's contribution to corneal development and the altered CCT in some FOXC1-related cases, this study was undertaken to investigate whether a related phenotype is associated with the PITX2/Pitx2 mutation. METHODS: Central corneal thickness (CCT) was measured in patients and mice with PITX2/Pitx2 mutations. CCT in affected individuals and unaffected first-degree relatives from a large PITX2 mutation pedigree was measured with ultrasonic pachymetry. For murine measurements, the optical coherence tomogram (OCT) was calibrated against plastic films whose thickness had been determined with scanning electron microscopy (SEM). Subsequently, CCT was measured in ex vivo eyes from Pitx2(+/-) and wild-type murine littermates by using OCT. RESULTS: CCT in individuals with the PITX2 mutation (mean 484 microm; range, 425-519; n = 8) was significantly lower than in their unaffected first-degree relatives (mean 582 microm; range, 550-590; n = 5; P = 0.0002, t-test). Scanning electron microscopy (SEM) and OCT measurements of reference films correlated closely (r = 0.9995) and subsequent OCT analysis of murine eyes revealed a significant reduction in CCT in Pitx2(+/-) compared with wild-type littermates (Pitx2(+/-): mean, 72 microm; range, 57-87, n = 6; wt: mean, 88 microm; range, 63-100; n = 6, P = 0.035, t-test). CONCLUSIONS: The results show that PITX2/Pitx2 mutation results in reduced corneal thickness and provides the first example of reduced CCT in a genetic subtype of glaucoma. These data will facilitate management of developmental glaucoma and offer potential for guiding molecular genetic testing in patients with Axenfeld-Rieger. The similar CCT reduction observed in patients and mice with comparable mutations emphasizes the utility of this murine model. The technical advance of optical murine CCT measurement also provides scope for serial in vivo imaging of the developing anterior segment and determining the effects of altered CCT on measured IOP.

Reduced human and murine corneal thickness in an Axenfeld-Rieger syndrome subtype. Publishing Authors By Initials

M Asai-Coakwell,C Backhouse,RJ Casey,PJ Gage,OJ Lehmann,

For similar proteins: transcription factors research abstracts see: proteins: transcription factors research

PUBMED ID PMID:

MEDLINE DATE:

Reduced human and murine corneal thickness in an Axenfeld-Rieger syndrome subtype. Journal Published:

PUBLICATION TYPE: Research Support, Non-U.S. Gov

Journal: Investigative ophthalmology & visual science

VOLUME: 47

Page Numbers: 4905-9

Journal Abbreviation: Invest. Ophthalmol. Vis. Sci.

ISSN: 0146-0404

DAY: 3

MONTH: Nov

YEAR: 2006

Reduced human and murine corneal thickness in an Axenfeld-Rieger syndrome subtype. Information

Number of References:

LANGUAGE: eng

NlmUniqueID: 7703701

Reduced human and murine corneal thickness in an Axenfeld-Rieger syndrome subtype. Keywords Mesh Terms:

KEYWORDS: Transcription Factors

MESH TERMS: genetics

Chemical & Substance for Abstract: Reduced human and murine corneal thickness in an Axenfeld-Rieger syndrome subtype. Information

Substance Name: homeobox protein PITX2

Registry Number: 184787-43-7

Grant and Affiliation Information for Reduced human and murine corneal thickness in an Axenfeld-Rieger syndrome subtype.

AFFILIATION: Department of Ophthalmology, University of Alberta, 829 Medical Sciences Building, Edmonton T6G 2H7, Alberta, Canada.

Country: United States

AGENCY: United States NEI

GRANT: EY 07003

ACRONYM: EY

MEDLINETA: Invest Ophthalmol Vis Sci

REFSOURCE:

DATABASENAME:

ACCESSION NUMBER:

Number Hits: 0

Reduced human and murine corneal thickness in an Axenfeld-Rieger syndrome subtype Related Publications

• A maternal screen for genes regulating Drosophila oocyte polarity uncovers new steps in meiotic progression.
• Anomalous Dispersion with Edges in the Soft X-ray Region: First Results of Diffraction from Single Crystals of Trypsin Near the K-Absorption Edge of Sulfur.
• Bioavailability of Echinacea constituents: Caco-2 monolayers and pharmacokinetics of the alkylamides and caffeic acid conjugates.
• Central alpha1-adrenergic system in behavioral activity and depression.
• Collision-induced reporter fragmentations for identification of covalently modified peptides.
• Comparative sensitivities of tocopherol levels of platelets, red blood cells and plasma for estimating vitamin E nutritional status in the rat.
• Dissociation of experimental allergic encephalomyelitis protective effect and allergic side reactions in tolerization with neuroantigen.
• Diverging trends for lower respiratory infections in non-Aboriginal and Aboriginal children.
• Effective modulation of the donor properties of N-heterocyclic carbene ligands by "through-space" communication within a planar chiral scaffold.
• Evaluating the effect of postmating isolation between molecular forms of Anopheles gambiae (Diptera: Culicidae).
• FOXO-independent suppression of programmed cell death by the PI3K/Akt signaling pathway in Drosophila.
• Fork head controls the timing and tissue selectivity of steroid-induced developmental cell death.
• Harriet Lane online culture book: matching residents' workflow.
• Identification of a distinct side population of cancer cells in the Cal-51 human breast carcinoma cell line.
• Iloprost for additional anticoagulation in continuous renal replacement therapy - a pilot study.
• Image plate detectors for macromolecular neutron diffractometry.
• Kinetics and organ distribution of IL-17-producing CD4 cells in proteolipid protein 139-151 peptide-induced experimental autoimmune encephalomyelitis of SJL mice.
• Listen to your patient...
• MP4- and MOG:35-55-induced EAE in C57BL/6 mice differentially targets brain, spinal cord and cerebellum.
• Metabolism of sphingosine 1-phosphate and lysophosphatidic acid: a genome wide analysis of gene expression in Drosophila.
• NO donors. Part 16: investigations on structure-activity relationships of organic mononitrates reveal 2-nitrooxyethylammoniumnitrate as a high potent vasodilator.
• Perirhinal cortex damage and anterograde object-recognition in rats after long retention intervals.
• Polymorphism at the defensin gene in the Anopheles gambiae complex: testing different selection hypotheses.
• Potency and in vitro tolerance of organic nitrates: partially denitrated metabolites contribute to the tolerance-devoid activity of pentaerythrityl tetranitrate.
• Quinoid metabolites of 4-monochlorobiphenyl induce gene mutations in cultured Chinese hamster v79 cells.
• Re: DTP vaccination and child survival in observational studies with incomplete vaccination data.
• Reduced human and murine corneal thickness in an Axenfeld-Rieger syndrome subtype.
• Reproductive output of female Anopheles gambiae (Diptera: Culicidae): comparison of molecular forms.
• Tumbling, an interactive way to move forward.
• [Side effects of topical photodynamic therapy]