Which ocular finding is associated with neurofibromatosis type 1?

Which ocular finding is associated with neurofibromatosis type 1?

• A. Lisch nodules seen on slit lamp examination
• B. Decreased depth of tendon reflexes
• C. Blue sclerae
• D. Micrognathia

Answer: (A)

In neurofibromatosis type 1, a classic ocular sign is Lisch nodules—pigmented iris hamartomas that are best seen with a slit-lamp exam. These small, melanocytic proliferations sit on the iris stroma and are common in individuals with NF1, often appearing in childhood and increasing with age. They usually don’t affect vision, but their presence is a helpful diagnostic clue when considered alongside other NF1 features such as café-au-lait spots and neurofibromas. The other options describe nonocular findings or signs associated with different conditions, so the iris nodules are the ocular finding most closely linked to NF1.

In neurofibromatosis type 1, a classic ocular sign is Lisch nodules—pigmented iris hamartomas that are best seen with a slit-lamp exam. These small, melanocytic proliferations sit on the iris stroma and are common in individuals with NF1, often appearing in childhood and increasing with age. They usually don’t affect vision, but their presence is a helpful diagnostic clue when considered alongside other NF1 features such as café-au-lait spots and neurofibromas. The other options describe nonocular findings or signs associated with different conditions, so the iris nodules are the ocular finding most closely linked to NF1.