Submitted Successfully!
To reward your contribution, here is a gift for you: A free trial for our video production service.
Thank you for your contribution! You can also upload a video entry or images related to this topic.
Version Summary Created by Modification Content Size Created at Operation
1
Catherine Yang
 + 457 word(s) 457 2020-12-15 07:16:52

Video Upload Options

Do you have a full video?
Send video materials Upload full video

Confirm

Are you sure to Delete?
Yes No
Cite
If you have any further questions, please contact Encyclopedia Editorial Office.
Yang, C. Autosomal Dominant Vitreoretinochoroidopathy. Encyclopedia. Available online: https://encyclopedia.pub/entry/4897 (accessed on 19 April 2024).
Yang C. Autosomal Dominant Vitreoretinochoroidopathy. Encyclopedia. Available at: https://encyclopedia.pub/entry/4897. Accessed April 19, 2024.
Yang, Catherine. "Autosomal Dominant Vitreoretinochoroidopathy" Encyclopedia, https://encyclopedia.pub/entry/4897 (accessed April 19, 2024).
Yang, C. (2020, December 24). Autosomal Dominant Vitreoretinochoroidopathy. In Encyclopedia. https://encyclopedia.pub/entry/4897
Yang, Catherine. "Autosomal Dominant Vitreoretinochoroidopathy." Encyclopedia. Web. 24 December, 2020.
Autosomal Dominant Vitreoretinochoroidopathy
Edit
This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/autosomal-dominant-vitreoretinochoroidopathy

Autosomal dominant vitreoretinochoroidopathy (ADVIRC) is a 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.

genetic conditions

1. Introduction

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 (cataract). 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.

2. Frequency

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

3. Causes

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.

3.1. The gene associated with Autosomal dominant vitreoretinochoroidopathy

  • BEST1

4. Inheritance

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.

5. Other Names for This Condition

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

References

  1. 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 inBEST1 that alter pre-mRNA splicing. J Med Genet. 2009 Sep;46(9):620-5. doi:10.1136/jmg.2008.059881.
  2. Vincent A, McAlister C, Vandenhoven C, Héon E. BEST1-related autosomaldominant vitreoretinochoroidopathy: a degenerative disease with a range ofdevelopmental ocular anomalies. Eye (Lond). 2011 Jan;25(1):113-8. doi:10.1038/eye.2010.165.
  3. Yardley J, Leroy BP, Hart-Holden N, Lafaut BA, Loeys B, Messiaen LM, PerveenR, 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.
More
©Text is available under the terms and conditions of the Creative Commons-Attribution ShareAlike (CC BY-SA) license; additional terms may apply. By using this site, you agree to the Terms and Conditions and Privacy Policy.
Upload a video for this entry
Information
Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register :
Catherine Yang
View Times: 373
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 24 Dec 2020
Table of Contents
    1000/1000
    Hot Most Recent
    Feedback