There are a variety of signs of TSC that can involve the eyes. About 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 specialises in the eyes and vision. The retina is the layer of the eye that converts light into electrical signals that are transmitted 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 vision problems, but can be helpful when trying to diagnose TSC.

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

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Retinal harmartomas
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 harmartomas. Sometimes they are shaped like a mulberry and a called calcified harmatomas. And sometimes they can have features of both of these, which are called transitional harmartomas.

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

Retinal harmartomas are usually present at birth and usually do not grow or change over time. They rarely cause loss of vision and only cases which have associated complications (like bleeding) will require treatment.

Optic disc harmartomas

These are benign lesions like retinal harmartomas, and involve the optic nerve.

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 affecting both eyes. This is a reduction in the total area in which objects can be seen in the right or left side (peripheral) vision, while you focus your eyes on a central point. The size and pattern of the visual field loss depends on the location and extent of surgery performed.

One particular anti-epilepsy medication, vigabatrin, can cause visual field loss (tunnel vision) in some people if they take the medication for long enough. 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 on this issue here.

For more information, also 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, contac 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.

If any of the problems associated with signs of TSC in the eyes are found, treatment will be tailored to the individual.

Help us provide high quality TSC information

We rely on the generosity of  donors and fundraisers to publish these information pages and keep them up to date. Please support our work if you can so we can continue to provide life changing information and support to families like Harrison’s. Donate now.

About this article

Last updated: 15 November 2022

Reviewed by: Dr Parth Shah, Clinical Professor, Clinical Lecturer, Discipline of Clinical Ophthalmology, University of Sydney and Visiting Medical Officer, Sydney Children’s Hospital Randwick

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.
  3. The UK guidelines for management and surveillance of Tuberous Sclerosis Complex, QJM: An International Journal of Medicine, Volume 112, Issue 3, March 2019, Pages 171–182, https://doi.org/10.1093/qjmed/hcy215
Parts of this web page have been adapted with permission from copyrighted content developed by the TSC Alliance (tscalliance.org)