Ataxia-telangiectasia (A-T) is a rare, inherited disorder characterized by progressive difficulty with movement coordination (ataxia), immune system dysfunction, and the presence of small, dilated blood vessels (telangiectasia) in the eyes and skin. Ophthalmological findings in A-T may include:
Inflammation of the Eye (Uveitis)
Uveitis is inflammation of the middle layer of the eye, called the uvea. It can be caused by infection, trauma, autoimmune diseases, or other causes. In A-T, it is usually caused by inflammation due to immune system dysfunction. Uveitis can cause pain, redness, light sensitivity, and blurred vision. It is important to monitor for signs of uveitis and treat it promptly to prevent vision loss.
Cataracts
Cataracts are cloudy areas in the lens of the eye that can cause blurred vision. Cataracts are common in A-T, and they can occur in both eyes at the same time. Treatment typically involves surgery to remove the cataracts and replace them with artificial lenses.
Retinal Telangiectasia
Retinal telangiectasia is a condition in which the blood vessels in the back of the eye become abnormally dilated. It can lead to vision problems, such as blurred vision and difficulty seeing in the dark. The condition can also cause bleeding in the retina, which can lead to further vision loss.
Glaucoma
Glaucoma is a condition in which the pressure in the eye increases, damaging the optic nerve and leading to vision loss. It can be caused by a variety of factors, including eye trauma or inflammation. In A-T, glaucoma is often caused by inflammation due to immune system dysfunction. Treatment typically involves medications and/or surgery to reduce the pressure in the eye.
Vision Impairment
Vision impairment is common in people with A-T, and can include decreased visual acuity, difficulty seeing in the dark, and difficulty with eye-hand coordination. Vision impairment can be caused by a variety of factors, including uveitis, cataracts, retinal telangiectasia, and glaucoma. Treatment typically involves medications, surgery, and/or glasses or contact lenses to correct vision.