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Retinal Dystrophy Clinic

The Retinal Dystrophy Clinic at UPMC Eye Center uses a multidisciplinary team approach to offer complete care for adults with IRDs. Our goal is to provide an early and precise diagnosis and innovative, trusted IRD treatments. We also work closely with our research team to bring clinical trials of new treatments right to you.

To learn more about our clinic, contact us at 412-647-4732 or Retinal.Dystrophy@upmc.edu.

What Are Inherited Retinal Dystrophies (IRDs)?

IRDs are a group of genetic disorders that damage the retina. They can cause severe vision loss or even blindness

Types of IRDs

Our team sees people of all ages with suspected or diagnosed IRDs such as:

  • Achromatopsia
  • Best disease
  • Blue cone monochromatism
  • Congenital stationary night blindness
  • Cone and cone-rod dystrophies
  • Cone-rod dystrophy
  • Choroideremia
  • Juvenile x-linked retinoschisis
  • Macular dystrophy
  • Leber congenital amaurosis (LCA)
  • Retinitis pigmentosa
  • Rod-cone dystrophy
  • Stargardt disease
  • Pattern dystrophy

We also diagnose and manage syndromic IRDs, which affect other parts of the body. These include conditions such as Bardet-Biedl syndrome, which can affect the kidneys and digits, and Usher syndrome, which can affect hearing.

What Are the Symptoms of Retinal Dystrophy?

Common symptoms of an IRD include:

  • Decreased central vision that glasses can't correct.
  • Decreased peripheral vision.
  • Trouble seeing in dark lighting.
  • Sensitivity to bright light.
  • Problems with color vision.

Diagnosing IRDs

Common tests to diagnose and manage an IRD include:

  • Fundus photos.
  • Optical coherence tomography (OCT).
  • Visual field.
  • Electroretinogram (ERG).
  • Genetic testing.

    We also work closely with our research team to bring clinical trials of new treatments right to you.

    How to Make an Appointment at the Retinal Dystrophy Clinic

    If you have or your doctor thinks you have an IRD, we're happy to help arrange your care at UPMC Eye Center.

    Make an appointment for IRD care

    To make an appointment for yourself or a loved one, call 412-647-4732 or e-mail us at Retinal.Dystrophy@upmc.edu.

    Note to new patients: We need your past eye health records and test results before we can schedule your appointment.

    Refer a patient to the Retinal Dystrophy Clinic

    To refer a patient, fax records and demographic information to 412-647-2064, Attn: IRD Clinic.

    With questions, call us at 412-647-4732 or e-mail us at Retinal.Dystrophy@upmc.edu.

    How to Get Ready for Your Retinal Dystrophy Clinic Appointment

    Before making your first appointment, we'll need to look at your past eye health records.

    This includes results of any tests you've had, such as an ERG and DNA testing.

    Having this data ahead of time helps us best prepare for your appointment and avoid repeating tests.

    You should also check with your health plan about what they cover. If you have questions or concerns about the cost of your visit, let us know and we'll do our best to help.

    Your first appointment will take a few hours and include dilation. You may want to ask a friend or loved one to drive you.

    What to Expect at Your Retinal Dystrophy Clinic Appointment

    We urge our patients to have a thorough exam every 1-2 years. These appointments last 3 or 4 hours, including tests and exams.

    We also offer low vision assessments and genetic counseling.

    There may be times we can't arrange all tests and assessments on the same day as your regular appointment. But we always strive to lessen the number of visits you have to make to our clinic.

    The Adult Retinal Dystrophy Care Team

    Our team approach for diagnosing and treating IRDs also includes specialists in:

    • Electrophysiology testing (i.e. ERG, VEP).
    • Genetic counseling and testing.
    • Low vision care.
    • Occupational therapy.
    • Ocular imaging and photography.
    • Social work.
    • Vision function testing.
    • Vitreous and retina surgery.

    Where to find us for adult and children's IRD care

    Our main clinic, which manages adult patients, is located at:

    UPMC Eye Center 203 Lothrop St. 6th floor Pittsburgh, PA 15213

    Children are seen in ophthalmology at UPMC Children's Hospital of Pittsburgh under the direction of Ken Nischal, MD :

    4401 Penn Ave. Penguin Suite Pittsburgh, PA 15224