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Signs

Ocular

Telangiectasias of the conjunctiva, horizontal or vertical oculomotor apraxia (inability to generate saccades, but normal pursuit), and cerebellar eye movements.

Systemic

Progressive cerebellar ataxia with gradual deterioration of motor function. Cutaneous telangiectasias. Recurrent sinopulmonary infections. Various immunologic abnormalities (e.g., IgA deficiency and T-cell dysfunction). High incidence of malignancy (mainly leukemia or lymphoma), developmental delay and loss of motor milestones, vitiligo, premature graying of the hair, testicular or ovarian atrophy, hypoplastic or atrophic thymus, and acute radiosensitivity.

Inheritance

Autosomal recessive: ATM gene on chromosome 11q22.

Work Up

Workup

  1. Family history. Consider evaluation of siblings.
  2. Consider MRI of the brain.
  3. Systemic evaluations in response to signs and symptoms.

Treatment

Treatment/Follow Up

No specific ocular treatment. Annual follow up. Routine dermatology monitoring and full-thickness excision of lesions as needed.