Q: My 15-year-old son has been diagnosed with Stargardt’s Disease. Is there a cure? What can be done?

A: At the present time, there is no cure for Stargardt’s Disease. However, there are FDA clinical trials which are evaluating the use of stem cells in treatment of Stargardt’s Disease. The research involves surgical implantation of stems cells into the eye in hopes that the implanted stem cells will replace those cells damaged by the disease. If proven effective, it will be several years before a treatment like this could reach the market.

Because a gene mutation has been identified as being responsible for Stargardt’s Disease, research in the area of gene therapy for the treatment of Stargardt’s Disease is also underway. The goal of gene therapy is to knock down the defective gene responsible for the disease and inserting a healthy new gene.

Even though there may not be a cure for Stargardt’s Disease yet, there are low vision rehabilitation and various a optical devices that are available. In order to learn more about optical devices, electronic magnification, and other technology that can benefit your son, it is advised to have a low vision examination by a low vision specialist. Vision rehabilitation services will equip your son with strategies to use his existing vision effectively in order to perform daily living skills, use vision efficiently for school, meet career objectives, travel safely in his environment, and remain active and independent. – Linda Pang, O.D. at Lighthouse International

Q: What tests are used to determine retinitis pigmentosa (RP)? Can RP be treated?

A: Retinitis pigmentosa (RP) is a group of hereditary conditions characterized by progressive visual field loss, night blindness, and abnormal electroretinogram (ERG) responses. While the primary form of RP is not associated with systemic diseases, there are secondary forms of RP that are associated with systemic diseases. Therefore, it is important to be examined by a primary medical doctor to rule out associated systemic diseases. Because there are many variations of RP, it is critical to have a comprehensive eye examination by an ophthalmologist or optometrist including dilation of the eyes to determine which form of RP you may have. Patients already diagnosed with RP need to continue with yearly eye examinations to monitor the condition.

Other tests include:

  • Fluorescein angiography: utilizes a special dye and camera system to evaluate the blood flow through the retina and choroid.
  • Electroretinogram (ERG): measures the electrical responses of the various cell types within the retina, including the rod and cone photoreceptor function.
  • Visual field test: measures the amount of peripheral vision function.

Although there is no present treatment available for RP at this time, those with RP can benefit from orientation and mobility training to travel safely and low vision rehabilitation to determine what optical devices can be of benefit. Currently, there are many clinical trials in process that are evaluating the effects of gene therapy and stem cell therapy in the treatment of RP. – Linda Pang, O.D. at Lighthouse International

 

 

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