There are a variety of signs of TSC that can involve the eyes and approximately 50% of people with TSC have some signs of TSC in their eyes. Loss of vision is not common in TSC.

Terms used by health professionals for things to do with the eyes are ophthalmic and ocular. An ophthalmologist is a medical doctor who specializes in the eyes. The retina is the part of the eye that transmits what is seen by the eye to the brain via the optic nerve.

Signs and Symptoms

There are many different signs of TSC that can occur in and around the eyes. Many of these do not cause major problems but can be helpful when trying to diagnose TSC.

Even for a doctor, it can be very difficult to tell if an abnormality in the eyes is caused by TSC or some other cause.

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Retinal Harmatomas
These are non-cancerous tumours, or lesions, that grow on the part of the eye called the retina. Sometimes they are smooth-surfaced and are called noncalcified harmatomas. Sometimes they are shaped like a mulberry and a called calcified harmatomas. And sometimes they are in between these two, called transitional harmatomas.

Retinal harmatomas caused by TSC look the same as retinal harmatomas caused by neurofibromatosis.

Usually these lesions do not grow or change over time. They rarely cause loss of vision and only extreme cases will require treatment.

Retinal hypopigmented lesions
These lesions on the eyes are similar to the white patches seen on the skin in many people with TSC.

These look like a “punched out” section of the retina. These lesions may be suggestive of a diagnosis of TSC, but are not conclusive in and of themselves.

Angiofibromas around the eyes

In rare cases, facial angiofibromas can grow on the eyelids and may impact vision. For more information on treatment of angiofibromas, see information on skin signs of TSC

Vision problems caused by intellectual impairment

In some people with TSC, severe seizures or brain lesions can cause the brain to have difficulty processing the signals it receives from the eyes. This is referred to as cortical visual impairment (CVI).

Vision problems caused by epilepsy treatment

Some loss of vision can be a side effect of surgery for epilepsy that cannot be controlled with medication. Usually this will be a visual field loss, which is a reduction in the total area in which objects can be seen in the side (peripheral) vision while you focus your eyes on a central point.

One particular anti-epilepsy medicine, vigabatrim, can cause a visual field loss in some people. This medicine is sold under the brand name Sabril. It can be an effective medicine for controlling infantile spasms and partial complex seizures in TSC.

A neurologist should discuss these potential side effects when advising on treatment options for epilepsy.

Read more about this issue in this whitepaper from the Tuberous Sclerosis Alliance

For more information, see our page on Epilepsy in TSC.

Other signs
If a SEGA  becomes so large that it is blocking the ventricles of the brain, vision can be affected. This is a rare occurrence and if it happens, urgent treatment for the SEGA is required.

Refractive errors are when the eye cannot focus the light coming into the eye properly. Types include near-sightedness, far-sightedness and astigmatism. Treatment can be with glasses or even laser surgery. These problems seem to occur in people with TSC just as commonly as they do in the general population.

Strabismus refers to a misalignment of the eyes. It is an uncommon sign of TSC and may or may not affect vision. Treatment such as patching and glasses is usually recommended for the best outcome.

Surveillance & Treatment

Surveillance is important because it can lead to early detection and treatment. Each person with TSC should have an individual management plan developed with their medical team that uses these guidelines as a starting point.

  • A complete eye exam should occur at diagnosis and then annually if any lesions or symptoms are identified.

If any of the problems associated with signs of TSC in the eyes are found, treatment will be tailored to the individual. There are many different options for treatment available.

Help us provide high quality TSC information

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About this article

Last updated: 14 December 2021

Prepared by: Clare Stuart, Tuberous Sclerosis Australia, Updated by: Kim Kerin-Ayres, Tuberous Sclerosis Australia

Original page reviewed by: Dr Frank Martin, Clinical Professor, The University of Sydney and visiting opthamologist, the Children’s Hospital Network (Sydney)

References:

  1. Kwiatkowski D.J., Whittemore V.H. & Thiele E.A. (2010) Tuberous Sclerosis Complex: Genes, Clinical Features, and Therapeutics. Weinheim: Wiley-Blackwell
  2. Eye Involvement in TSC, Tuberous Sclerosis Alliance, viewed 2nd May 2012, https://tsalliance.org/pages.aspx?content=587.
Parts of this web page have been adapted with permission from copyrighted content developed by the Tuberous Sclerosis Alliance (www.tsalliance.org)