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.
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.
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.
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
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).
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. For more information, see our page on Epilepsy in TSC.
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.
- Examination of the eyes by an ophthalmologist can help to determine if a person has TSC
- An initial eye examination should be done as soon as possible after diagnosis
- For infants, eye exams should be done every 6 months because their eyes are developing so quickly.
- For children, eye examinations should be done once per year.
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.[/tab][/tabs]
Prepared by: Clare Stuart, The Australasian Tuberous Sclerosis Society
Reviewed by: Dr Frank Martin, Clinical Professor, The University of Sydney and visiting opthamologist, the Children’s Hospital Network (Sydney)
- Kwiatkowski D.J., Whittemore V.H. & Thiele E.A. (2010) Tuberous Sclerosis Complex: Genes, Clinical Features, and Therapeutics. Weinheim: Wiley-Blackwell
- Eye Involvement in TSC, Tuberous Sclerosis Alliance, viewed 2nd May 2012, http://tsalliance.org/pages.aspx?content=587.