VCAN-Related Vitreoretinopathy

Abstract

Disease characteristics. VCAN-related vitreoretinopathy, which includes Wagner syndrome and erosive vitreoretinopathy (ERVR), is
characterized by “optically empty vitreous” on slit-lamp examination and avascular vitreous strands and veils, mild or occasionally moderate
to severe myopia, presenile cataract, night blindness of variable degree associated with progressive chorioretinal atrophy, retinal
detachment at advanced stages of the disease, and reduced visual acuity. Systemic abnormalities are not observed. The first signs usually
become apparent during early adolescence, but onset can be as early as age two years.
Diagnosis/testing. The clinical diagnosis of VCAN-related vitreoretinopathy is established based on typical clinical findings and a family
history consistent with autosomal dominant inheritance. VCAN (previously CSPG2) is the only gene known to be associated with Wagner
syndrome and ERVR. Molecular genetic testing is available on a clinical basis.
Management. Treatment of manifestations: Refractive error is corrected by spectacles or contact lenses; visually disabling cataract is
treated by cataract surgery, preferably by an experienced surgeon. Retinal breaks without retinal detachment are treated with laser
retinopexy or cryocoagulation. Vitreoretinal surgery is indicated for retinal detachment, vitreoretinal traction involving the macula, or
epiretinal membranes involving the macula. Surveillance: annual ophthalmologic examination by a vitreoretinal specialist. Testing of
relatives at risk: for the purpose of early diagnosis and treatment of ophthalmologic complications in at-risk relatives: molecular genetic
testing if the disease-causing mutation has been identified in the family; otherwise, ophthalmologic evaluation.
Genetic counseling. VCAN-related vitreoretinopathy is inherited in an autosomal dominant manner. Most individuals diagnosed with
VCAN-related vitreoretinopathy have an affected parent. Each child of an affected individual has a 50% chance of inheriting the mutation.
Although no laboratories listed in the GeneTests Laboratory Directory offer molecular genetic testing for prenatal diagnosis of VCAN-related
vitreoretinopathy, such testing may be possible through laboratories offering custom prenatal testing for families with a known diseasecausing
mutation.