Congenital aniridia

Overview

Type of disease: Rare conditions

Congenital aniridia is a disease that causes issues in the eyes leading to problems with vision. Individuals with this disease are missing either the entire or part of the iris (the colored part of the eye). This can cause the pupils (the inner, dark part of the eye) to have an incorrect shape.

Individuals with congenital aniridia experience a loss in sharpness of vision, sensitivity to light, and other eye problems. Glaucoma (increased eye pressure), cataracts (clouding of the lens in the eye), underdeveloped optic nerves (the nerves that carry information from the eye to the brain), involuntary eye movements (nystagmus), and underdevelopment in the part of the eye that controls sharp vision can occur with congenital aniridia as well. Ultimately, aniridia leads to progressive vision loss over time, but it usually does not cause any behavioral or developmental problems.

This disease genetic and can be diagnosed before birth with screening. Early detection can lead to early treatment in order to improve eyesight. Treatment varies based on how advanced the disease is, as well as what symptoms the disease has caused. Each symptom requires different treatment options and so a specific treatment plan is decided on a case-by-case basis. Most people with aniridia need glasses in order to assist with poor eyesight. People with aniridia should expect to have life-long follow up appointments with eye doctors so that detection of any new symptoms or worsening can be caught early.

While there is no prevention, proper eye care can let people with this disease experience long lives with minimal limitations. If you or a family member has been diagnosed with congenital aniridia, talk to your doctor about the most current treatment options. Support groups are also good resources for information.

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