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Retinal Dystrophy Clinic at the UPMC Vision Institute

Inherited retinal dystrophies (IRD) are genetic diseases that affect your vision.

At the Retinal Dystrophy Clinic, we:

  • Care for adults with IRD.
  • Aim to provide an early, precise diagnosis and innovative, trusted IRD treatments.
  • Work closely with our research team to bring you clinical trials of new IRD treatments.

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


Retinal Dystrophy Programs and Services

Experts worldwide know the Retinal Dystrophy Clinic at the UPMC Vision Institute for our care of adults with IRD. We see people from around the U.S. and the world, including Europe, Asia, and South America.

Our care team offers a range of cutting-edge IRD programs and services. We not only care for your vision but also how an IRD affects the rest of your life.

Our programs and services include:

  • The latest diagnostic equipment. High-tech eye imaging tools help precisely diagnose IRD for the best treatment options.
  • Innovative treatments. If it's an option, we offer gene therapy to help slow down your IRD and preserve your eyesight. We also offer the chance to take part in cutting-edge research trials.
  • Care by leading retina experts. Our doctors are highly-trained, world-renowned experts in diseases of the retina.
  • Access to genetic eye disease experts. Our team tests and assesses your genetic eye disorder. They can help you grasp your health issues and if your family members are also at risk.
  • Vision training. Our rehab experts work with you to maximize your eyesight with low-vision aids. These may include special magnifying glasses and computer programs that translate a visual scene into spoken words.
  • Follow-up with occupational therapists. These experts can help you with daily tasks so you're safe at home.
  • Input from social workers. They help navigate government programs, arrange transportation, and access other vision services.
  • Access to highly-trained eye surgeons. Our experts are here if you need surgery for an IRD.

Retinal dystrophy gene therapy

Having an IRD means a genetic change is the cause of your retina problems.

Gene therapy isn't a cure for IRDs, but it's a promising treatment. It may improve your vision and slow the progression of your disease.

Some types of gene therapy can replace a defective gene with a new gene. Others produce material that helps stop or reduce the risk of cell death in the retina.

Doctors can give some gene therapies through a shot in the eye. Others require surgery.


How to Make an Appointment at the Retinal Dystrophy Clinic

If you have an IRD or your doctor suspects it, we will help arrange your care at UPMC Vision Institute.

Make an appointment for IRD care.

To schedule a visit for yourself or a loved one, call 412-647-4732 or email us at Retinal.Dystrophy@upmc.edu.

Before your first visit, we need access to your past eye health records and test results.

Refer a patient to the Retinal Dystrophy Clinic.

To refer someone to our clinic, fax their records and demographic information to 412-647-2064. Include Attn: IRD Clinic on the cover letter.

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

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

Our main clinic manages adults with IRDs at the UPMC Vision Institute's new headquarters, the UPMC Mercy Pavilion, at:

1622 Locust Street, Pittsburgh, PA 15219

We see kids with IRDs at UPMC Children's Hospital of Pittsburgh at:

4401 Penn Ave. Penguin Suite Pittsburgh, PA 15224


How to Get Ready for Your Retinal Dystrophy Clinic Appointment

Before planning your first visit, we'll look at your past eye health records. This includes the results of any tests you've had, such as an ERG and DNA testing.

Having this data beforehand 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 worry about the cost of your visit, let us know, and we'll do our best to help.

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

We urge people we treat to have a thorough exam every one to two years. These appointments last three or four hours, including tests and exams.

We also offer low-vision testing and genetic counseling.

We may be unable to arrange all testing on the same day as your regular visit. But we always strive to lessen the number of visits you must make to our clinic.


The Adult Retinal Dystrophy Care Team

Our care team includes:

  • Jose-Alain Sahel, MD.
  • Boris Rosin, MD.
  • Michelle Alabek, MS, clinic coordinator.
  • Morgan Brzozowski, MS.

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

  • Electrophysiology testing.
  • Genetic counseling and testing.
  • Low vision care.
  • Occupational therapy.
  • Ocular imaging and photography.
  • Social work.
  • Vision function testing.
  • Eye surgery.
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