VCAN-Related Vitreoretinopathy – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY

Excerpt

NOTE: THIS PUBLICATION HAS BEEN RETIRED. THIS ARCHIVAL VERSION IS FOR HISTORICAL REFERENCE ONLY, AND THE INFORMATION MAY BE OUT OF DATE.

Clinical 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 traction and retinal detachment in the advanced stages of disease, and reduced visual acuity. Optic nerve inversion as well as uveitis has also been described. 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 diagnosis of VCAN-related vitreoretinopathy is established in a proband with characteristic ocular findings and a family history consistent with autosomal dominant inheritance. Identification of a heterozygous VCAN pathogenic variant establishes the diagnosis if clinical features are inconclusive.

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. Posterior capsule opacification is treated with YAG laser capsulotomy. 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.

Evaluation of relatives at risk: For the purpose of early diagnosis and treatment of ophthalmologic complications in at-risk relatives: molecular genetic testing if the pathogenic variant 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 pathogenic variant. Prenatal testing is possible for families in which the pathogenic variant is known.