Ocular Genetics Treatment Center

If your child has a genetic eye disorder, we can help. Because these eye diseases are rare, your child needs treatment from experts.

We can help them understand and manage their disease and maximize their eyesight.

We're experts in genetic eye diseases at the Ocular Genetics Treatment Center at UPMC Children's Hospital of Pittsburgh. Our eye doctors and genetic counselors have 40 years of experience in ocular genetics.

Researchers are learning more about eye genetics. At UPMC Children's, we take part in cutting-edge research and have access to the latest findings.

Children's Genetic Eye Diseases We Treat

We diagnose and treat many hereditary eye diseases, including inherited retinal dystrophies (IRDs). This group of rare genetic eye diseases can damage the retina. The retina is the light-sensitive tissue at the back of the eye.

IRDs we treat include:

  • Cone-rod dystrophy.
  • Stargardt disease.
  • Achromatopsia.
  • Leber congenital amaurosis.
  • Rod-cone dystrophy.
  • Congenital stationary night blindness.

Other gene-based eye diseases we treat include developmental disorders, dystrophies, and syndromes of the eye. Some of these include:

  • Corneal opacities and dystrophies. These are types of clouding of the cornea. The cornea covers the iris and pupil and should look clear. It's the transparent part of the eye that allows light to enter.
  • Anterior segment developmental disorders. These are a spectrum of problems with how the front part of the eye forms. These genetic issues can affect the cornea, iris, aqueous humor, or lens of the eye.
  • Albinism. This group of genetic eye issues affects the pigment and development of the eyes, resulting in decreased vision. The pigment levels of the hair and skin may also be lower.
  • Nystagmus. This is a condition that affects the movement of the eye, causing the eyes to have a to-and-fro or up-and-down motion. Nystagmus can occur on its own or with vision issues or other eye findings like IRDs or albinism.
  • Stickler syndrome. This genetic eye condition can cause severe nearsightedness, cataracts, and risk for retinal tears or detachment.
  • Optic atrophy. This genetic eye condition affects the optic nerve. The optic nerve sends visual signals to the brain.

Ocular Genetics Programs and Services at UPMC Children's

We offer ophthalmic genetic testing and genetic counseling for children with inherited eye problems.

Some of the services we offer include:

  • Total eye exams.
  • Care for dozens of genetic eye diseases.
  • Advanced imaging, including 3D images of parts of the eye.
  • Visual electrophysiology measures how the retina and the pathway from the eye to the brain work.
  • Genetic testing to identify the cause of your child's eye condition.
  • Plans to manage your child's eye problem.

We also offer programs to help your child at school and home. We look at each setting and offer ways to maximize your child's vision.

At home, we can help with low-vision services. Low vision aids include magnifiers and electronic devices using voice recognition and font enlargement.

At school, we can work with your child's teachers. We provide guidance and info about your child's eye problems. Teachers create custom plans that allow your child to reach their full potential.

What to Expect at Your Child's Ocular Genetics Appointment

During your first visit, you'll meet with an eye doctor and a genetic counselor who are experts in eye problems.

Your child's eye doctor will do a complete eye exam. They may use advanced diagnostic testing and eye scans.

Depending on your health insurance, genetic testing may or may not happen at the first visit.

The doctors will also ask about your child's health and the health of family members.

Be ready to answer questions like:

  • Does your child have any other health issues?
  • Does your child see any other health specialists?
  • Has your child had bloodwork, ultrasounds, MRIs, or heart testing?
  • Has your child had genetic testing before? If so, what were the tests and results?
  • Does anyone else in your family have an eye issue? What is it, and how old were they when diagnosed? What's their vision like, and how are they related to your child?
  • Are there other health problems that seem to run in your family?
  • Has anyone in your family had genetic testing?

Why Choose UPMC Children's Ocular Genetics Treatment Center?

As one of the country's leading ocular genetics centers:

  • We're experts in the diagnosis, surgical intervention, and visual rehabilitation of genetic eye diseases.
  • We're one of 14 treatment centers in the U.S. to offer Luxturna. It's the only FDA-approved gene therapy for Leber congenital amaurosis, an inherited retinal disease.
  • We take a team approach to your child's care, working with other experts at UPMC Children's. Our goal is to provide well-rounded care if your child has other health issues.
  • Our research center has access to the latest genetic eye disease findings. Your child may have the option to take part in clinical trials.
  • Our International Services team at UPMC Children's can help if you live outside the U.S.
  • We offer telehealth visits for genetic test results.

Make an Appointment For Your Child's Genetic Eye Disease

Find and make an appointment with a children's eye doctor. Call 412-692-8940 or email EyeGC@upmc.edu.

UPMC Children's Hospital of Pittsburgh

4401 Penn Ave.
Pittsburgh, PA 15224

Phone: 412-692-8940
Fax: 412-692-3203

Email: EyeGC@upmc.edu