Clinical characterisation and molecular analysis of Wagner syndrome.
OBJECTIVE
To detail the clinical findings in a British family with molecularly characterised Wagner syndrome.


BACKGROUND
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.


METHODS
Mutation screening was performed using PCR and RT-PCR.


RESULTS
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.


CONCLUSIONS
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. This report summarises the clinical findings in Wagner syndrome and extends the phenotypic characteristics.
Meredith
Sarah P
SP
Department of Pathology, University of Cambridge, Cambridge, UK.
Richards
Allan J
AJ
Flanagan
Declan W
DW
Scott
John D
JD
Poulson
Arabella V
AV
Snead
Martin P
MP
D000328:Adult; D002648:Child; D004247:DNA / Q000032:analysis; D004172:Diplopia / Q000235:genetics; D005260:Female; D005451:Fluorescein Angiography; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D020133:Reverse Transcriptase Polymerase Chain Reaction; D013577:Syndrome; D014606:Uveitis, Anterior / Q000235:genetics*; D014786:Vision Disorders / Q000235:genetics*
D004247:DNA