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Autosomal dominant vitreoretinochoroidopathy
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Condition

Autosomal dominant vitreoretinochoroidopathy

Autosomal dominant vitreoretinochoroidopathy (ADVIRC) is an inherited eye disorder that impacts the vitreous, retina, and choroid, leading to a range of vision impairments, though some individuals maintain normal vision.

Overview

Autosomal dominant vitreoretinochoroidopathy (ADVIRC) is an inherited disorder that affects several parts of the eyes, including the clear gel that fills the eye (the vitreous), the light-sensitive tissue that lines the back of the eye (the retina), and the network of blood vessels within the retina (the choroid). The eye abnormalities in ADVIRC can lead to varying degrees of vision impairment, from mild reduction to complete loss, although some people with the condition have normal vision.

The signs and symptoms of ADVIRC vary, even among members of the same family. Many affected individuals have microcornea, in which the clear front covering of the eye (cornea) is small and abnormally curved. The area behind the cornea can also be abnormally small, which is described as a shallow anterior chamber. Individuals with ADVIRC can develop increased pressure in the eyes (glaucoma) or clouding of the lens of the eye (cataracts). In addition, some people have breakdown (degeneration) of the vitreous or the choroid.

A characteristic feature of ADVIRC, visible with a special eye exam, is a circular band of excess coloring (hyperpigmentation) in the retina. This feature can help physicians diagnose the disorder. Affected individuals may also have white spots on the retina.

Frequency

ADVIRC is considered a rare disease. Its prevalence is unknown.

Causes & Risk Factors

ADVIRC is caused by mutations in the BEST1 gene. The protein produced from this gene, called bestrophin-1, is thought to play a critical role in normal vision. Bestrophin-1 is found in a thin layer of cells at the back of the eye called the retinal pigment epithelium. This cell layer supports and nourishes the retina and is involved in growth and development of the eye, maintenance of the retina, and the normal function of specialized cells called photoreceptors that detect light and color. In the retinal pigment epithelium, bestrophin-1 functions as a channel that transports charged chlorine atoms (chloride ions) across the cell membrane.

Mutations in the BEST1 gene alter how the gene's instructions are used to make bestrophin-1, which leads to production of versions of the protein that are missing certain segments or have extra segments. It is not clear how these versions of bestrophin affect chloride ion transport or lead to the eye abnormalities characteristic of ADVIRC. Researchers suspect that the abnormalities are related to defects in the retinal pigment epithelium or the photoreceptors.

Associated Genes

  • BEST1

Inheritance Pattern

This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition.

Other Names

  • ADVIRC
  • Vitreoretinochoroidopathy dominant
  • Vitreoretinochoroidopathy with microcornea, glaucoma, and cataract
  • Vitreoretinochoroidopathy, autosomal dominant, with nanophthalmos

Additional Information & Resources

Genetic Testing Information

  • Genetic Testing Registry: Autosomal dominant vitreoretinochoroidopathy

Genetic and Rare Diseases Information Center

  • Autosomal dominant vitreoretinochoroidopathy

Patient Support and Advocacy Resources

  • National Organization for Rare Disorders (NORD)

Catalog of Genes and Diseases from OMIM

  • VITREORETINOCHOROIDOPATHY; VRCP

Scientific Articles

  • PubMed

References

  • Burgess R, MacLaren RE, Davidson AE, Urquhart JE, Holder GE, Robson AG, Moore AT, Keefe RO, Black GC, Manson FD. ADVIRC is caused by distinct mutations in BEST1 that alter pre-mRNA splicing. J Med Genet. 2009 Sep;46(9):620-5. doi: 10.1136/jmg.2008.059881. Epub 2008 Jul 8. Citation on PubMed
  • Vincent A, McAlister C, Vandenhoven C, Heon E. BEST1-related autosomal dominant vitreoretinochoroidopathy: a degenerative disease with a range of developmental ocular anomalies. Eye (Lond). 2011 Jan;25(1):113-8. doi: 10.1038/eye.2010.165. Epub 2010 Nov 12. Citation on PubMed or Free article on PubMed Central
  • Yardley J, Leroy BP, Hart-Holden N, Lafaut BA, Loeys B, Messiaen LM, Perveen R, Reddy MA, Bhattacharya SS, Traboulsi E, Baralle D, De Laey JJ, Puech B, Kestelyn P, Moore AT, Manson FD, Black GC. Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC). Invest Ophthalmol Vis Sci. 2004 Oct;45(10):3683-9. doi: 10.1167/iovs.04-0550. Citation on PubMed

Medical Encyclopedia

  • Genetics

Understanding Genetics

  • What is the prognosis of a genetic condition?
  • How can gene variants affect health and development?
  • What does it mean if a disorder seems to run in my family?
  • What are the different ways a genetic condition can be inherited?
  • How are genetic conditions treated or managed?

Frequently Asked Questions

Diagnosis is primarily confirmed through genetic testing that identifies mutations in the BEST1 gene. Because the physical symptoms can range from normal vision to severe impairment even among family members, genetic testing is the most reliable method. Ophthalmologists also look for specific signs during a dilated eye exam, such as a circular band of excess pigment in the retina, microcornea, or a shallow anterior chamber, which help distinguish ADVIRC from other eye conditions. What are the long-term risks for eye health in individuals with ADVIRC?::Individuals with ADVIRC are at an increased risk for developing secondary eye conditions, including glaucoma (increased pressure in the eye) and cataracts (clouding of the lens). Some may also experience degeneration of the vitreous or choroid. Regular comprehensive eye exams are essential to monitor intraocular pressure and lens clarity, as early detection and treatment of glaucoma or cataracts can help preserve remaining vision. Can the condition be passed from a parent to a child, and what are the chances?::Yes, ADVIRC is an autosomal dominant disorder, meaning only one copy of the mutated gene is needed to cause the condition. If one parent has ADVIRC, each child has a 50 percent chance of inheriting the mutation and developing the disorder. It is important for family members to be aware of this risk, and genetic counseling can help families understand the inheritance patterns and options for testing. Does having ADVIRC mean I will definitely go blind?::No, the severity of vision loss varies significantly among individuals with ADVIRC. Some people maintain normal or near-normal vision throughout their lives, while others experience mild to severe impairment. The condition does not always progress to complete blindness. Regular monitoring by an ophthalmologist allows for the management of complications like glaucoma or cataracts, which can help stabilize vision and prevent further decline.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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