Wagner syndrome type 1

(redirected from degeneratio hyaloideoretinalis hereditaria)

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.
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