Aniridia is a rare genetic disorder characterized by the partial or complete absence of the iris, the colored part of the eye. This condition is often present at birth and can affect one or both eyes. Aniridia is derived from the Greek words "an" meaning without, and "iris" referring to the iris of the eye.
Individuals with aniridia may experience various visual impairments due to the absence or underdevelopment of the iris. The iris plays a crucial role in controlling the amount of light entering the eye, so its absence can result in sensitivity to light (photophobia) and difficulties with adjusting to different lighting conditions. Additionally, aniridia can cause reduced visual acuity, nystagmus (involuntary eye movements), and problems with depth perception.
Although aniridia primarily affects the eyes, it can also be associated with other systemic conditions. These may include Wilms tumor (a type of kidney cancer), genitourinary abnormalities, and developmental delays. Aniridia is typically caused by mutations in the PAX6 gene, which is responsible for eye development.
While there is currently no cure for aniridia, management of the condition focuses on addressing its associated symptoms and complications. Treatment options may include corrective lenses to improve visual acuity, tinted glasses or contact lenses to reduce light sensitivity, and surgical interventions to address complications such as glaucoma or cataracts.
Living with aniridia can present unique challenges, but individuals with this condition can lead fulfilling lives with appropriate support and accommodations. Regular eye examinations, early intervention, and access to low vision aids can greatly enhance the quality of life for those affected by aniridia.