SNP Shot: Genomic Insights

Aniridia is an eye condition defined by the absence, either complete or partial, of the iris (the colored part of the eye). This iris malformation can lead to irregularly shaped or abnormal pupils. Individuals with aniridia often experience decreased visual acuity (sharpness of vision) and heightened light sensitivity (photophobia).

Additional eye complications can arise in individuals with aniridia. Glaucoma, characterized by elevated eye pressure, commonly develops during late childhood or early adolescence. Cataracts, the clouding of the eye's lens, affect a significant proportion, ranging from 50% to 85%, of people with aniridia. Optic nerve underdevelopment, affecting the nerves transmitting visual information to the brain, occurs in roughly 10% of affected individuals. Nystagmus (involuntary eye movements) and foveal hypoplasia (underdevelopment of the fovea, responsible for sharp central vision) can also be present. These various eye issues can contribute to a gradual decline in vision. The severity of symptoms generally presents equally in both eyes.

In rare instances, aniridia can be associated with behavioral challenges, developmental delays, and difficulties with the sense of smell.

Inheritance:

Aniridia follows an autosomal dominant inheritance pattern. This means that having just one copy of the mutated gene in each cell is enough to cause the condition. In about two-thirds of cases, the affected individual inherits the mutated gene from a parent who also has aniridia. The remaining one-third of cases are due to new, spontaneous mutations in the gene, occurring in individuals with no family history of the disorder.