Sturge-Weber Syndrome is a set of related attributes caused by a sporadic genetic mutation (non-hereditary) and typically characterized by the eye condition known as glaucoma as well as a “port-wine stain” (pinkish or reddish birthmark) on one side of the face (usually covering at least one eyelid and forehead), seizures occurring by the time the child is one year of age (usually on the side of the body opposite the “port-wine stain”), partial paralysis, and learning disabilities.
You can learn more about the three types of Sturge-Weber Syndrome on the Sturge-Weber Foundation’s website.
We will focus on the eye condition associated with Sturge-Weber Syndrome, glaucoma.
Glaucoma is a disease in which the pressure of the fluid inside the eye is too high, resulting in a loss of peripheral vision. If the condition is not diagnosed and treated, the increased pressure can damage the optic nerve and eventually lead to total blindness. Vision lost as a result of such damage cannot be restored.
Childhood glaucoma is also referred to as congenital, pediatric, or infantile glaucoma.
How Is Sturge-Weber Syndrome Diagnosed?
Most often, Sturge-Weber Syndrome is identified by a “port-wine stain,” seen at birth, and accompanying neurological and visual symptoms.
Symptoms of glaucoma can include:
- unusually large eyes,
- excessive tearing,
- redness of the eye,
- cloudiness of the cornea, or milky white cornea,
- sensitivity to light (photophobia),
- turning away from light, and
- pain in the eye or a feeling of “something in the eye.”
One or more of these signs and symptoms together may be an indicator of abnormal intraocular pressure. The pressure will then be checked by an ophthalmologist using one of many methods of “tonometry” (procedures for checking intraocular pressure). If increased pressure (excessive eye fluid) is present, your child will be given a diagnosis of glaucoma.
Are There Treatments for Sturge-Weber Syndrome?
There is no cure for Sturge-Weber Syndrome, but many of the symptoms can be treated. Laser treatments are an option to lighten the “port-wine stain,” and medication can control seizures.
Regarding glaucoma, surgery, daily medication (usually eye drops), or a combination of both enables most young patients to control their intraocular pressure and retain their remaining vision.
How Would You Describe the Eyesight of One with Sturge-Weber Syndrome and How Will My Child Function with It?
Glaucoma results in peripheral field loss, which can progress to the point of total blindness if left untreated.
An individual with loss of peripheral vision has some degree of “tunnel vision” making it difficult to gather comprehensive visual information in an environment; he or she will benefit from learning visual efficiency skills such as scanning an environment in an organized manner and possibly utilizing a reverse telescope to minimize the appearance of an image in order to see its entirety within the remaining field of vision. Additionally, the individual is likely to bump into side-lying and low-lying obstacles; he or she should utilize orientation and mobility skills, such as the use of a cane, to avoid obstacles.
If your child’s vision loss progresses to near-total or total loss of sight, he or she must be taught to complete tasks without the use of vision. Your child may be taught braille, screen-reading software to use the computer, and techniques for performing life skills and academic tasks from the teacher of students with visual impairments and orientation and mobility specialist.
Keep in mind, it is common for bright sunlight and glare to cause significant discomfort and inability to see (this is known as a “white out”) in one with glaucoma. Your child may benefit from specialized sunglasses (amber-tinted lenses), use of a brimmed hat while outdoors as well as shutting blinds while indoors if glare is present.
Your child’s teacher of students with visual impairments should perform a functional vision assessment to determine how your child uses his or her vision in everyday life and a learning media assessment to determine which senses your child primarily uses to get information from the environment. These assessments, along with an orientation and mobility assessment conducted by a mobility specialist, will give the team information needed to make specific recommendations for your child to best access learning material and his or her environment.
Resources for Families of Children with Glaucoma
- Lighthouse Guild for the Blind offers a free national tele-support network for parents of children with visual impairment to connect you with parents whose children also have glaucoma, so you can share resources, experiences, strength, and hope. The tele-support groups meet by phone every week and are facilitated by a psychologist or social worker with input from professionals knowledgeable about children’s eye conditions. For more information or to enroll in a tele-support group, call 800-562-6265 or write to firstname.lastname@example.org.
- The Sturge-Weber Foundation
- Sturge-Weber syndrome by the U.S. National Library of Medicine
- Facts About Glaucoma by the National Eye Institute
- Glaucoma Research Foundation
- Glaucoma by AFB’s VisionAware