Which of the following is commonly associated with Neurofibromatosis type 1?

Prepare for the NBEO Systemic Disease Exam. Use flashcards and multiple-choice questions to test your knowledge. Each question includes hints and explanations. Enhance your understanding and readiness for the exam.

Neurofibromatosis type 1 (NF1) is a genetic disorder characterized by the development of various benign tumors, skin changes, and a range of other systemic manifestations. Among the common ocular findings associated with NF1, Lisch nodules on the iris and optic nerve gliomas are particularly notable.

Lisch nodules are hamartomas that appear as small, pigmented lesions on the iris. They are highly indicative of NF1 and can often be observed during a comprehensive eye examination. The presence of these nodules is a dermatological hallmark of the condition and contributes significantly to the diagnosis of NF1.

Optic nerve gliomas are another crucial association with NF1. These tumors arise from the optic nerve and can lead to vision problems, proptosis, and other neurological symptoms. They are also part of the criteria used for diagnosing NF1, and their presence can often be identified using MRI imaging of the brain.

Congenital glaucoma, while not as directly associated with NF1, can be seen in certain patients due to various factors including the presence of other eye anomalies that may coexist. However, it is important to note that it is not a defining feature of NF1.

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