Neurofibromatosis Type 1

A healthcare provider will diagnose neurofibromatosis type 1 after a physical exam and testing. During the exam, they’ll look for signs of the condition and learn more about your symptoms.

Tests may include:

• Imaging tests, like an MRI, X-ray or CT scan.
• Genetic testing.
• An eye exam.

For many people, an NF1 diagnosis occurs during adulthood. This happens because symptoms appear in stages as you age. For example, you might be born with café au lait spots (or they appear during the first few years), but freckles might not appear in your underarms or groin area until age 3 to 5. Neurofibromas are common during adulthood. Vision changes usually lead people to visit a healthcare provider to seek a diagnosis.