Tuberous sclerosis

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.

Lagophthalmos is often caused by facial palsy. 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.

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

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 on 05-01-20

Patient Registry

RDCRN - Developmental Synaptopathies Associated with TSC, PTEN and SHANK3 Mutations

The Developmental Synaptopathies Associated with TSC, PTEN and SHANK3 Mutations Consortium is an integrated group of academic medical centers, patient support organizations, and clinical research resources dedicated to conducting clinical research on Tuberous Sclerosis Complex (TSC1 and TSC2 genes), PTEN ASD/ID syndrome and Phelan-McDermid syndrome (PMS; SHANK3 gene). The Consortium has a contact registry for patients who wish to be contacted about clinical research opportunities and updates on the progress of the research projects.

For more information on the registry see: https://www.rarediseasesnetwork.org/registry/index.htm

Last updated on 04-27-20

Testing Resources

Tuberous Sclerosis Alliance LAM test

The Tuberous Sclerosis Alliance provides information about a new diagnostic test for lymphangioleiomyomatosis (LAM). This test measures vascular endothelial growth factor D (VEGF-D), which is known to be elevated in the blood of people with LAM, including those with tuberous sclerosis.

Last updated on 04-27-20

Name: Tuberous Sclerosis Alliance TS Alliance 801 Roeder RD, Suite 750
Silver Spring, MD, 20910-4487, United States
Phone: +1-301-562-9890 Toll Free: 1-800-225-6872 Fax : +1-301-562-9870 Email: info@tsalliance.org Url: https://www.tsalliance.org/ For immediate support or information, please email Dena Hook at dhook@tsalliance.org.

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