Genetic Test
ADAMTS17 (A Disintegrin and Metalloproteinase with Thrombospondin Motifs 17) encodes a metalloproteinase enzyme that degrades structural proteins in the extracellular matrix.
Mutations in this gene have been associated with a range of ocular abnormalities, including lens myopia, lens subluxation, and glaucoma.
This genetic test targets a specific mutation in the ADAMTS17 gene known to be associated with lens luxation, a condition in which the lens becomes displaced from its normal position within the eye.
Disease Description
The structure of the eye is similar to that of a camera. Just as a camera lens focuses light onto film, the eye contains a transparent structure called the lens that focuses light onto the retina.
Lens luxation refers to the displacement of the lens from its normal position due to damage or weakening of the zonular fibers, which normally hold the lens in place.
When this condition arises due to a congenital weakness of the supporting structures, it is called primary lens luxation (PLL). In contrast, when it is caused by other ocular diseases such as glaucoma or cataracts, it is referred to as secondary lens luxation. This genetic test specifically targets mutations responsible for primary lens luxation, which is inherited and occurs independently of other eye conditions.
Primary lens luxation commonly develops spontaneously between the ages of 3 and 8 years. It may affect one eye initially and later progress to the other, but it does not necessarily occur in both eyes at the same time. If left untreated, the dislocated lens can lead to severe complications such as intense ocular pain, retinal detachment, permanent corneal edema, and in some cases, complete loss of vision.
