Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues

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Wagner Syndrome (WGN1) [H33.5]

OMIM numbers: 143200118661 (VCAN) 

Dr. rer. nat. Christoph Marschall

Scientific Background

The Wagner syndrome is a very rare autosomal dominant degenerative disease of the eyes with full penetrance. Signs and symptoms begin at around 20 years of age and manifest in progressive visual impairment, scotomas, moderate myopia and cataract and usually result in blindness. Morphological signs include an optically empty vitreous, fibrillar condensation and choroidal dystrophy. In some rare cases, retinal detachment is seen. Sometimes, distinguishing Wagner syndrome from Stickler syndrome is difficult. The Wagner syndrome, however, is not characterized by facial and skeletal malformations.

The genetic cause of the Wagner syndrome seems to be heterogeneous. Mutations in the VCAN gene were confirmed to be the cause in 7 out of 26 families who underwent molecular genetic testing. VCAN encodes the chondroitin sulfate proteoglycan versican, a structural protein of the vitreous body. So far, all mutations have been localized in the splice region of exon 8.