Autosomal dominant vitreoretinochoroidopathy

Autosomal dominant vitreoretinochoroidopathy (ADVIRC) is a rare inherited eye disorder that primarily affects the vitreous humor, retina, and choroid of the eye. It is caused by mutations in the BEST1 (VMD2) gene, which encodes bestrophin-1, a protein important for normal function of the retinal pigment epithelium. ADVIRC is characterized by a distinctive peripheral circumferential hyperpigmented band in the retina, typically located between the ora serrata and the equator of the eye. Additional ocular findings include vitreous fibrillar condensation, retinal detachment, presenile cataracts, microcornea, and nanophthalmos (abnormally small eyes). Some patients may also develop angle-closure glaucoma. The electrooculogram (EOG) may be abnormal, while the electroretinogram (ERG) can be normal or show variable changes depending on disease severity. The condition is present from early life, though symptoms may not become apparent until later childhood or adulthood, depending on the severity of the ocular changes. Visual acuity can range from normal to significantly reduced, particularly if complications such as retinal detachment, cataract, or glaucoma develop. The peripheral retinal pigmentary changes are a hallmark finding and are often discovered during routine ophthalmologic examination. There is currently no cure or specific treatment for ADVIRC. Management is supportive and focused on monitoring and treating complications as they arise. Surgical intervention may be necessary for retinal detachment or cataracts, and glaucoma may require medical or surgical management. Regular ophthalmologic follow-up is recommended for affected individuals and at-risk family members to detect and manage complications early. Genetic counseling is advised for affected families given the autosomal dominant inheritance pattern.

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