National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Tuberous sclerosis complex



Can tuberous sclerosis affect blinking and eye closure? If not, what could cause this?

Lagophthalmos is the medical term for "incomplete closure of the eyelid." Lagophthalmos can cause drying, infection, corneal ulceration, corneal perforation, and loss of vision.[1]

Lagophthalmos is often caused by facial palsy.[2] Facial palsy may be due to a variety of conditions and factors, including Bell's palsy, trauma, infection, or tumors.  Lagophthalmos can occur as a result of bulging eyes (e.g., as in Graves disease), or in individuals whose face has suffered scarring. Other causes, include ocular cicatrical pemphigoid, erythema multiforme, leprosy, chronic alcoholism, dementia, parkinsonism, general anesthesia, and coma. Temporary lagophthalmos can occur in infants or in people during sleep.[1][3][2]

Treatment may include artificial tears, eye ointment, moisture chambers, or surgery.[1]

It is possible that a tuberous sclerosis related tumor or complication could cause lagophthalmos. If you or a loved one has tuberous sclerosis and is experiencing lagophthalmos we strongly recommend that you speak with a geneticist or other healthcare professional who can help you determine the underlying cause of the condition.

Genetic professionals are a source of information for individuals and families regarding genetic diagnosis, natural history, treatment, mode of inheritance, and genetic risks to other family members. To find a genetics clinic, we recommend that you contact your primary doctor for a referral. Click here to learn more about genetic consultations.

The following online resources can also help you find a genetics professional in your community:

  * GeneTests - A searchable directory of US and international genetics and prenatal diagnosis clinics. Go to the following link and click on 'Clinic Directory' to find a genetic service close to you.
http://www.geneclinics.org/

  * ResourceLink - A database of genetics counseling services, searchable by location, name, institution, type of practice, or specialty. Hosted by the National Society of Genetic Counselors.
http://www.nsgc.org/resourcelink.asp

  * Genetic Centers, Clinics, and Departments - A comprehensive resource list for genetic counseling, including links to genetic centers and clinics, associations, and university genetics departments. Hosted by the University of Kansas Medical Center.
http://www.kumc.edu/gec/prof/genecntr.html

  * The American Society of Human Genetics (ASHG) is a professional organization of research and clinical geneticists. The ASHG maintains a database of these geneticists, some of which live outside of the United States. If you are interested in obtaining a list of the geneticists in your area, some of which may only be researchers and may not offer medical care, please visit the following hyperlink, to search.
http://genetics.faseb.org/cgi-bin/ASHG-Search

Last updated: 10/29/2010

We hope this information is helpful. We strongly recommend you discuss this information with your doctor. If you still have questions, please contact us.

Warm regards,
GARD Information Specialist

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  1. Olitsky SE, Hug D, Smith LP. . In: Kliegman. Nelson Textbook of Pediatrics, 18th ed. Philadelphia, PA: Saunders; 2007;
  2. Pereira MV. Lagophthalmos. Semin Ophthalmol. 01 May 2010;
  3. McLeod SD. Bacterial Keratitis. In: Yanoff & Duker. Ophthalmology, 3rd ed. Philadelphia, PA: Mosby; 2008;