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Ocular and other features

Authoring team

The ocular features of type I neurofibromatosis include:

  • Lisch nodules - hamartomata of the iris
  • pulsating exophthalmos, as a result of sphenoid dysplasia

Miscellaneous features include:

  • hypertension due to:
    • phaeochromocytoma
    • fibromuscular hyperplasia of the renal artery resulting in renal artery stenosis and secondary hyperaldosteronism

  • precocious puberty

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