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Wilmer Genetic Eye Disease Center

 

What We Offer

The Wilmer GEDi Center has dedicated faculty within each sub-specialty of ophthalmology (for example, cornea, glaucoma, neuro-ophthalmology, pediatrics, retina), who are experienced in caring for patients with complex genetic eye issues.

Specialized services within the center include:

  • Our dedicated genetic counseling service sees patients in-house at Wilmer to allow them to get the genetic testing they need as efficiently and seamlessly as possible. Our counselors are members of the Johns Hopkins Department of Genetic Medicine. They see patients across the entire genetic eye disease spectrum and have the ability to coordinate testing with other specialty services.

    Appointments with our genetic counselors can be arranged ahead of time to make the most efficient use of a patient’s time with us and limit the need for return visits.

  • Wilmer’s well-established, state-of-the-art electrophysiology service administers to adult patients and children over the age of seven years.

    For younger patients, or those whose mental and/or physical capabilities prevent them from undergoing standard testing, we offer non-sedated ERG/VEP testing to obtain the information needed to make a diagnosis, without the risks of general anesthesia.

    For patients who are unable to tolerate awake testing, we offer sedated testing, which can be coordinated in advance if patients are coming from a long distance.

  • Many patients not only need clinical care from our eye physicians, but they also need assistance with obtaining critical ancillary services that allow them to function at home, work, and in other aspects of daily life.

    Wilmer’s team of dedicated low vision specialists can help patients achieve this goal. As with all of our GEDi Center services, if a patient is coming from a long distance, their Low Vision appointment can be coordinated with their other appointments at Wilmer to make the most efficient use of their time with us.

Center Co-Directors

Lead Genetic Counselor

Christy Smith

Christy Smith is a board-certified genetic counselor in the Johns Hopkins Department of Genetic Medicine. She is a member of the National Society of Genetic Counselors as well as a diplomate and member of the American Board of Genetic Counseling. She received her master's degree in genetic counseling from the Johns Hopkins/National Human Genome Research Institute (NHGRI) genetic counseling program.

Expertise, disease and conditions: Adult and pediatric genetic disease; inherited retinal and other ocular disorders; inherited neuromuscular disease; inherited adult and pediatric cancers

GEDi Research Activities

The Wilmer GEDi Center is proud to be part of a number of ongoing and upcoming clinical trials. These include:

  • Stargardt Disease – Acucela and Alkeus trials
  • Choroideremia – REP1 gene therapy trial (NightStarx)
  • X-linked retinoschisis – AGTC trial
  • X-linked retinitis pigmentosa – RPGR gene therapy trial

In addition, pre-clinical research studies are ongoing to evaluate novel therapies, including both gene and stem cell therapy, for genetic causes of high myopia and a range of inherited retinal dystrophies. For more information about our clinical or pre-clinical trial activities, please contact us.

 

Contact Us 

For questions about the Wilmer GEDi Center, or to book an appointment:

Alie Collins
Email: acolli32@jhmi.edu
Phone: 410-955-9692
Fax: 410-367-3260

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