Vitreoretinopathies are a set of pathologies characterized by degeneration of the vitreous humor and the retina, premature cataracts and high predisposition to retinal detachments. They are transmitted in an autosomal dominant, autosomal recessive and X-linked Mendelian inheritance pattern. These diseases include Stickler syndrome types I (STL1) and II (STL2), usually caused by mutations in COL2A1 and COL11A1 respectively.
The DBGen Panel of Vitreoretinopathies and Stickler Syndrome analyzes 25 genes and 6 mutations in non coding regions causing these pathologies.
12 – 14 weeks