SCIENTIFIC BACKGROUND

VCAN

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Scientific Background

Wagner syndrome is a very rare autosomal dominant inherited degenerative eye disease with complete penetrance. Symptoms begin around the age of 20 and are characterized by progressive vision loss, visual field restriction, moderate myopia and cataract formation, which usually lead to blindness. Morphological characteristics are an optically empty vitreous cavity, fibrillar condensations and chorioretinal dystrophy. Retinal detachment occurs in rare cases. In some cases, it can be difficult to distinguish from Stickler syndrome. However, in Wagner syndrome, facial and skeletal malformations are missing.

 

The genetic cause of Wagner syndrome seems to be heterogeneous. In 26 families examined by molecular genetic methods so far, the cause was found to be in variants in the VCAN gene in seven families. VCAN codes for the chondroitin sulfate proteoglucan, Versican, a structural protein of the vitreous body. So far, all variants have been localized in the splice regions of exon 8.

 

References

Ankala et al. 2018, Am J Med Genet A 176:1778 / Kloe-Gruissem et al. 2013, Eur J Hum Genet 21:352 / Ronan et al. 2009, Arch Ophthalmol 127:1511 / Meredith et al. 2007, Br J Ophthalmol 91:655 / Mukhopadhyay et al. 2006, Invest Ophthalmol Vis Sci 47:3565 / Kloeckner-Gruissem et al. 2006, Mol Vis 12:350

GENES

VCAN

ASSOCIATED TESTS

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