Ataxia-Telangiectasia in Ophthalmology Follow-up

Updated: Jan 14, 2014
  • Author: Andrew A Dahl, MD, FACS; Chief Editor: Hampton Roy, Sr, MD  more...
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Follow-up

Further Outpatient Care

See the list below:

  • Respiratory infections should be monitored.
  • Physical therapy is indicated.
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Deterrence/Prevention

The gene responsible for ataxia-telangiectasia, the ATM gene, was discovered in 1995. This gene makes a protein that activates a number of other proteins that control cell cycle, DNA repair, and cell death. There is ongoing preclinical and early clinical research on gene therapy to treat ataxia-telangiectasia and other diseases.

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Complications

Complications may include the following:

  • Recurrent pulmonary infections
  • Progressive ataxia results in the patient being wheelchair ridden
  • Death
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Prognosis

More than 50% of patients with ataxia-telangiectasia die of recurrent respiratory infections, and many of the remainder develop malignancies, such as leukemia or lymphomas.

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Patient Education

Children with ataxia-telangiectasia should have psychologic counseling as they age because of the great disparity between chronological age and mental age in tests involving visual motor coordination.

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