Ataxia Telangiectasia


Ataxia telangiectasia (AT) is a genetic condition involving chromosome 11q22-23. Although rare, the precise incidence remains unknown but is estimated to be approximately 1 per 40,000 to 1 per 300,000 live births. The condition is autosomal recessive. Children with ataxia telangiectasia may present with chronic red eyes that are unresponsive to antibiotics or allergy drops and typically have progressive cerebellar ataxia. The condition of ataxia telangiectasia leads to anomalous telangiectatic vessels which can grow on the surface of the eyes and skin. Children with AT are more likely to have sinus and respiratory infections. Ocular problems with the disease include: telangiectasias leading to chronically red eyes and oculomotor problems such as strabismus (eye misalignment) and possible nystagmus. Additionally, because of immune system problems, children with AT are more likely to develop lymphoma or leukemia. These patients are hypersensitive to radiation.

According to one study by Farr et al., the incidence of strabismus was 33% and the incidence of nystagmus was 29% in patients with ataxia telangiectasia. The poor eye movements in these children may lead to difficulty with reading and learning. According to current research, good eye alignment is achievable with surgery in patients with ataxia telangiectasia.

Additional information is located at: The National Institute of Neurologic Disorders and Stroke