SNP Shot: Genomic Insights

Autosomal dominant vitreoretinochoroidopathy (ADVIRC) is a condition impacting multiple structures within the eye. These include the vitreous humor (the transparent, gel-like substance filling the eye), the retina (the light-sensitive layer at the back of the eye), and the choroid (the network of blood vessels supplying the retina). This disorder can cause a range of visual problems, from slight vision reduction to complete blindness. However, some individuals with ADVIRC retain normal vision.

The symptoms and signs of ADVIRC exhibit variability, even among family members. A common finding is microcornea, characterized by a small and unusually curved cornea (the clear front of the eye). A shallow anterior chamber, indicating a reduced space behind the cornea, is also frequently observed. People with ADVIRC may develop glaucoma (increased eye pressure) or cataracts (clouding of the eye's lens). Vitreous or choroid degeneration can also occur in some individuals.

A key diagnostic marker of ADVIRC, detectable during a specialized eye examination, is a ring-shaped area of increased pigmentation (hyperpigmentation) in the retina. This distinctive feature aids in the diagnosis of the condition. White spots on the retina may also be present in affected individuals.

Inheritance:

ADVIRC follows an autosomal dominant inheritance pattern. This means that only one copy of the mutated gene in each cell is enough to cause the condition. In most instances, an affected person inherits the gene from a parent who also has ADVIRC.