Ataxia-Telangiectasia in Ophthalmology Workup

Updated: Jul 28, 2020
  • Author: Andrew A Dahl, MD, FACS; Chief Editor: Hampton Roy, Sr, MD  more...
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Workup

Laboratory Studies

Laboratory studies may include the following:

  • Complete blood cell (CBC) count

  • Urinalysis and urinary amino acids

  • Immunoglobulin panel

  • Serum alpha fetoprotein level (raised in 90% of cases)

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Imaging Studies

Imaging studies may include the following:

  • Chest radiography

  • MRI of the brain

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Other Tests

Other tests may include the following:

  • Electrocardiography

  • Encephalography

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Histologic Findings

Histopathologic studies of the brain of an individual with ataxia-telangiectasia have revealed loss of Purkinje cells, granular cells, and basket cells of the cerebellar cortex.

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