How Neurofibromatosis Can Affect Your Eyes

by Jan 3, 2022Eye Disease, Systemic Disease

Neurofibromatosis is a genetic disorder that has two variations. Both Neurofibromatosis Type 1 and Neurofibromatosis Type 2 can affect the eyes in many ways.


What Causes Neurofibromatosis?

The underlying cause of neurofibromatosis type 1 and neurofibromatosis type 2 is a genetic mutation.

In neurofibromatosis type 1, the genetic mutation occurs at the NF1 gene on chromosome 17.

In neurofibromatosis type 2, the genetic mutation occurs at the NF2 gene on chromosome 22.

Each of these mutations are rare, and even more rare without additional mutations to tumor suppressing genes.

Tumor suppressing genes are designed to inspect and prevent mutations and thus tumor formation.

In neurofibromatosis, there are two tumor suppressing genes that have been linked to an increased risk of mutations at the NF1 and NF2 genes.

Neurofibromatosis is inherited in an autosomal dominant pathway, meaning that a parent who has the mutated gene has a fifty percent chance of having a child with the mutated gene as well.

Not all cases of neurofibromatosis are inherited, as new mutations can occur in embryological development.


What does Neurofibromatosis Affect?

Neurofibromatosis is characterized by affecting the skin, brain, and eyes.

The most apparent sign of neurofibromatosis is the presence of tumors, or neurofibromas, on the surface of the skin.

These tumors are not cancerous and typically are harmless. However, if these neurofibromas are causing issues such as impairing movement or activities of daily living or affecting the eyes, the neurofibromas can be removed.

There is a possibility of tumors forming in the brain with neurofibromatosis, these are typically not cancerous and only cause issues when the tumor compresses other areas of the brain.

The eyes can be affected in multiple ways in neurofibromatosis. If neurofibromas form on the eyelids, the eyelid can droop and block vision in an eye resulting in amblyopia.

Inside the eyes, neurofibromatosis can result in tumors in the back of the eyes called astrocytic hamartomas.

Additionally, neurofibromatosis is linked to an increased risk for a cancerous tumor called an optic nerve glioma.

Another sign of neurofibromatosis is the presence of Lisch nodules on the iris. These are colored collections of tissue on the iris which do not pose any risk.


How is Neurofibromatosis Managed or Treated?

There is not a cure for neurofibromatosis, but the symptoms can be treated individually.

To treat the skin lesions or tumors, surgical or cryotherapy removal can be used to mitigate any following issues.

To treat the brain tumors, an MRI may be used to follow the progression of the tumors and then surgical removal may be needed if the tumors are causing any compression in the brain.

To treat the eye tumors, regular eye exams are needed for astrocytic hamartomas and optic nerve gliomas. The risk of optic nerve gliomas is much higher than astrocytic hamartomas and thus they are need treatment much more frequently.


How to Get Care for Neurofibromatosis

Neurofibromatosis is a rare condition and needs to have routine care for skin, brain, and the eyes.

A dermatologist, neurologist, and optometrist are the providers that care provide the routine management that is needed.

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Our eye doctors at Nittany Eye Associates excel in the prescription of contact lenses, glasses and various eye diseases. Call us at (814) 234-2015 or schedule an appointment online with one of our highly trained optometrists if you would like to learn more about neurofibromatosis.  Be sure to visit Nittany Eye Associates where we always put the care of you and your family first at our convenient locations in State College, Matilda, Spring Mills, Tyrone, and Lock Haven PA areas.


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