Wagner syndrome type 1

Wagner syndrome type 1

An autosomal dominant vitreoretinopathy (OMIM:143200) characterised by an optically empty vitreous cavity with fibrillary condensations and a preretinal avascular membrane, progressive chorioretinal atrophy, perivascular sheating, subcapsular cataract and myopia; systemic manifestations are absent.
Molecular pathology
Defects of VCAN, which encodes a proteoglycan that plays a central role in tissue morphogenesis and maintenance, cause Wagner syndrome type 1.