Researchers at University of Cambridge, Department of Pathology target ophthalmology
2007 MAY 29 -- New research, "Clinical characterisation and molecular analysis of Wagner syndrome," is the subject of a report. In this recent report published in the British Journal of Ophthalmology, researchers in Cambridge, the United Kingdom conducted a study "To detail the clinical findings in a British family with molecularly characterised Wagner syndrome. Only in the last year has the specific genetic defect in Wagner syndrome been identified, and the background literature of the molecular genetics is outlined. Clinical and laboratory findings in a second case of Wagner syndrome are included to highlight difficulties that can be encountered when identifying pathogenic mutations for disorders arising in complex genes." "Mutation screening was performed using PCR and RT-PCR. A heterozygous mutation was found converting the donor splice site of exon 8 of the chondroitin sulphate proteoglycan 2 (CSPG2). This is the same mutation that has been reported in the original Wagner pedigree. The main clinical features of Wagner syndrome are vitreous syneresis, thickening and incomplete separation of the posterior hyaloid membrane, chorioretinal changes accompanied by subnormal electroretinographic responses, an ectopic fovea and early-onset cataract. A clinical feature present in this family, but previously undescribed, is anterior uveitis without formation of synechiae. Wagner syndrome has a progressive course, resulting in loss of vision even in the absence of retinal detachment. On a background of considerable confusion regarding the distinction between Wagner syndrome and predominantly ocular Stickler syndrome, it is now apparent the that two conditions are both clinically and genetically distinct," wrote S.P. Meredith and colleagues, University of Cambridge, Department of Pathology. The researchers concluded: "This report summarises the clinical findings in Wagner syndrome and extends the phenotypic characteristics." Meredith and colleagues published their study in British Journal of Ophthalmology (Clinical characterisation and molecular analysis of Wagner syndrome. British Journal of Ophthalmology, 2007;91(5):655-9). For additional information, contact S.P. Meredith, University of Cambridge, Dept. of Pathology, Cambridge, UK. The publisher's contact information for the British Journal of Ophthalmology is: B M J Publishing Group, British Med Association House, Tavistock Square, London WC1H 9JR, England. Keywords: United Kingdom, Cambridge, Diagnosis, Diagnostics, Genetics, Ophthalmology. This article was prepared by Life Science Weekly editors from staff and other reports. Copyright 2007, Life Science Weekly via NewsRx.com.
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