Neurofibromatosis and Your Eyes

Neurofibromatosis is a genetic, multi-system disorder than not only involves the eyes, but also the brain, nerves, bones, and skin. There are two types of neurofibromatosis: NF1 (type 1) and NF2 (type 2). NF1 is by far the most common type of the disease, representing 90 percent of cases.

People with NF1 usually have several characteristic signs that may be present at birth, but most of the signs and symptoms show up in early childhood.

Those with NF2 usually develop signs and symptoms later in life, between the ages of 20 and 30. NF1 is sometimes referred to as Von Recklinghausen or peripheral neurofibromatosis. NF2 is sometimes referred to as central neurofibromatosis.

Signs and Symptoms

People who have neurofibromatosis type 1 may have the following features:

  • Cafe-au-lait macules: Cafe-au-lait macules are pigmented skin lesions that are seen in 95% of people with neurofibromatosis. These dark patches typically increase in size and number during the first 10 years of life.
  • Skinfold freckling: Skinfold freckling is often referred to as Crowe sign. People with neurofibromatosis often have collections of freckles in the armpit and groin areas. In some, these freckles are found above the eyelids, beneath the breasts, and around the neck.
  • Bone change: People with neurofibromatosis are prone to abnormal bone growth and sometimes skeletal dysplasia. Skeletal dysplasia causes short stature and arms and legs to be out of proportion with the rest of the body.

    Neurofibromatosis and the Eyes

    People with neurofibromatosis often develop abnormalities that directly affect the eyes.

    • Cutaneous neurofibromas: Cutaneous neurofibroma is the hallmark skin sign in NF1. Neurofibromas are elevated, round skin tumors. Neurofibromas appear in late childhood and increase in size and number throughout life. Neurofibromas can become quite large, sometimes reaching five centimeters. They are usually not painful but can itch and be tender to the touch. When they occur around the eyelids they can cause inflammation and infections such as blepharitis. They can also cause eyelid distortions such as ptosis, where the eyelid hangs lower than it should, and ectropion, where the lower eyelid falls away from the eye and can become exposed to the atmosphere abnormally.
    • Lisch nodules: Lisch nodule are raised, pigmented lesions that appear in the iris. Eye doctors can see Lisch nodules in the eyes of people with neurofibromatosis as young as six years of age. They look like small, circular, dome-shaped lesions that stick out from the iris. These may be important for diagnostic purposes. Sometimes, Lisch nodules are discovered during an eye exam before a person is diagnosed with neurofibromatosis.
    • Retinal astrocytic hamartomas: Retinal astrocytic hamartomas are benign tumors of the retina that can develop in both eyes. They can involve the optic nerve but may also spread out to affect the macula, the center of the retina. If these parts are involved, vision may be decreased and strabismus (eye turn) may be present. This type of tumor is located in the posterior pole, or
    • Optic pathway gliomas: As many as 15 percent of children with NF1 have brain tumors that affect the optic pathway, which includes the optic nerve as it exits the back of the eye and goes back into the brain. Sometimes these tumors can cause proptosis. Proptosis is a condition in which a mass causes the eye to bulge forward. Strabismus (eye turn) can also occur as a result of optic gliomas.


      Neurofibromas can be massive in number or occur in small bunches. If these raised nodules occur in inconvenient places that cause problems, for example along the temple, they can be surgically removed. A neurofibroma along the temple could cause great problems just trying to wear prescription glasses or sunglasses. Surgical removal works well for isolated lesions but it is impossible in most cases to remove a large number of them.

      People with multiple neurofibromas around the eye and eyelid need to take extra care in utilizing good hygiene in these areas. Cleaning around neurofibromas around the eyelid can prevent blepharitis and other skin infections.

      Children who develop optic gliomas usually do not require treatment unless the tumors show fast growth or progression. If this occurs, chemotherapy is the treatment of choice. Sometimes these brain lesions can cause developmental or cognitive impairment. These children need special attention as these lesions can cause spatial defects, visuomotor deficits and language problems and motor coordination issues.


      A few complications might arise in people with NF2. 

      • Acoustic neuromas: Neurofibromatosis type 2, NF2, is caused by a mutation in the gene that suppresses the growth of tumors. This causes an overproduction of nerve tissue and tumor growth. One of the most common signs of NF2 is acoustic neuromas, or a tumor that affects the nerve that allows us to hear. People who suffer from this may complain of balance problems, hearing loss and tinnitus.
      • Cataracts: Eighty percent of people with NF2 will develop two types of cataracts, posterior subcapsular and cortical cataracts. These are usually relatively mild cataracts but about 20 percent experience decreased vision because of them.
      • Optic nerve sheath meningiomas: About 27 percent of people with NF2 will have tumors that affect the covering around the optic nerve. The tumors themselves are usually benign but they can push on and squeeze the nerve bundles and blood vessels in the optic nerve, causing vision loss. These meningiomas can also cause the eye to bulge forward and cause eye muscle restrictions.
      • Epiretinal membranes: People who suffer from NF2 also seem to easily develop epiretinal membranes. Epiretinal membranes are membranes that develop on the surface of the retina. The membrane is usually centered over the macula. If these membranes contract, they can cause decreased or distorted vision.

      What You Should Know

      Neurofibromatosis is a serious disease causing tumor growth throughout many systems in the body. Both NF1 and NF2 may produce eye signs that eye doctors can pick up on that will lead to an earlier diagnosis. Anyone suspected of having neurofibromatosis should have annual comprehensive eye examinations including dilation of the eye.

      The severity of eye-related complications of neurofibromatosis can vary dramatically, even within members of the same family. However, because it affects many body systems, these people are usually visiting many different specialists including neurosurgeons, otolaryngologists, audiologists, optometrists/ophthalmologists, and neuroradiologists.


      Sowka, Joseph, Gurwood, Andrew, Kabat, Alan, Neurofibromatosis, p13-15, June 2016, Review of Optometry, The handbook of ocular disease management, 18th edition.