Clinical Diagnosis of Wagner Syndrome
VCAN-related vitreoretinopathy is characterized by:
“Optically empty vitreous” on slit-lamp examination and avascular vitreous strands and veils
Mild or occasionally moderate to severe myopia
Presenile cataract
Night blindness of variable degree associated with progressive chorioretinal atrophy
Retinal detachment at advanced stages of the disease
Reduced visual acuity resulting from the above manifestations
Absence of systemic abnormalities
The clinical diagnosis of VCAN-related vitreoretinopathy is established based on typical clinical findings and a family history consistent with autosomal dominant inheritance. The presence of several affected family members facilitates diagnosis by identifying the mode of inheritance and spectrum of ocular findings among affected family members at different ages. In general, it is the pattern of ocular findings in an individual or a family rather than a specific ocular finding that helps establish the diagnosis. Establishing the diagnosis may be more difficult in a simplex case (i.e., a single occurrence in a family).
Molecular Genetic Testing
Gene. VCAN (previously CSPG2), encoding the large extracellular matrix proteoglycan versican, is the only gene currently known to be associated with Wagner syndrome and erosive vitreoretinopathy (ERVR) .
Clinical testing
Sequence analysis. Sequence analysis of the entire VCAN coding region and flanking introns performed
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