Overview Of Inherited Eye Diseases

Vision loss and eye diseases can often affect multiple generations of a family. The Retina Foundation’s labs dedicated to inherited eye diseases recognize that permanent vision loss needs to be stopped in its tracks so that later generations are not affected.

Retinal degeneration is the most common cause of inherited vision loss. Retinitis Pigmentosa (RP) causes blindness in approximately 200,000 people in the United States annually. The symptoms of RP happen gradually, starting with difficulty seeing in the dark and leading to tunnel vision and total blindness.

The gradual loss in vision is due to the loss of photoreceptor cells in the retina. The retina is a sheet of light-sensitive tissue on the inner back surface of the eye that contains these specialized photoreceptor cells which convert light into electrical signals for transmission of images to the brain. Unfortunately, any disease that results in photoreceptor cell death will ultimately lead to blindness.

How We Are Researching Inherited Eye Diseases

Retinitis Pigmentosa is an inherited disease. Although there is no cure, much research is being done to both prevent and delay the progression of RP. Our multiple research labs work tirelessly to prevent vision loss and restore sight through groundbreaking research and testing:

Macular Function Lab is continuing our work on the Argus II retinal prosthesis device once led by our Rose-Silverthorne Retinal Degenerations Lab who helped the technology gain FDA approval. The Argus II, commonly known as the “bionic eye,” is an advanced visual aid that helps to provide a nominal simulation of vision for blind patients with advanced stage retinitis pigmentosa.

Rose Silverthorne Retinal Degenerations Laboratory has helped to improve the use of specific testing techniques and technologies to better evaluate the vision of patients with RP and expedite clinical trials. They maintain a database of patients nationwide to expedite recruitment of patients for clinical trials on inherited eye diseases such as retinitis pigmentosa and macular degeneration. They also provide genetic testing and counseling free of charge. The Retina Foundation is the only center in the southwest region that provides this specialized service.

Visual Biochemistry Laboratory has pioneered studies on X-linked RP, evaluating the use of certain long-chained fatty acids, including DHA, as a potential treatment for the eye condition. Their goal is to investigate the role of nutrition associated with visual and cognitive development in infancy and childhood.


Argus II Implant Post-Market Study for Retinitis Pigmentosa (RP)

We are conducting a five-year post-market study of Argus™ II retinal implant system by Second Sight. After implanting an artificial retina in patients, we are testing their ability to detect light and dark in the environment. This study is meant to determine the effectiveness of Argus II and how patients can use the device to function in their daily lives.

Randomized Trial to Determine if VPA Slows the Progression of Retinitis Pigmentosa (RP)

We are participating in a Phase II multisite, randomized trial of oral Valproic Acid (VPA) for retinitis pigmentosa. The study seeks to determine whether VPA, which interacts with misfolded proteins, is effective in slowing progression in autosomal dominant forms of retinitis pigmentosa.

Study of the History of P23H Mutation

We are currently working on a natural history study of patients with the P23H mutation of the Rhodopsin gene (RHONHS).  We are learning the rate of disease progression in a cohort of patients with this particular genetic mutation.  These same patients will enter a gene therapy trial in an attempt to slow or halt the visual loss.

Optogenetics Gene Therapy to Provide Low Vision

We are using gene therapy to insert a light sensitive pigment into retinal ganglion cells.  Our goal is to provide low vision to patients who are otherwise blind from retinitis pigmentosa.

Trial to Reduce Retinal Splitting and Visual Loss for Patients with X-linked Retinoschisis

A multiple-site, Phase I/II safety and efficacy trial of a recombinant adeno-associated virus vector expressing retinoschisin (rAAV2tYF-CB-hRS1) in patients with x-linked retinoschisis.  The goal of this study is to provide the normal gene for retinoschisin to reduce retinal splitting and visual loss.

Choroideremia Natural History and Gene Therapy

We have enrolled patients with choroideremia in order to measure disease progression in a cohort of patients with this disease.  These same patients will enter a gene therapy trial in an attempt to slow or halt the visual loss.

Study on the History and Progression of Stargardt Disease

Stargardt disease is the most common form of inherited juvenile macular degeneration. We are studying the natural history of the progression of atrophy (degeneration of cells) secondary to STGD disease studies.  One trial is retrospective, looking back at data on progression that we have collected in the past.  A second trial is prospective, where we follow patients at six month intervals.

SMART study to Evaluate Pace of Rod and Cone Loss with Stargardt Disease

SMART study: a scotopic microperimetric assessment of rod function in Stargardt disease.  We seek to determine whether rod loss proceeds more rapidly than cone loss in these patients.

Phyllis Snyder: Patient and Legacy

October 10, 2016 Nearly seventy years ago, Phyllis Snyder’s mother, Rose Lee Gunter, was misdiagnosed as having glaucoma and incorrectly treated by a “horse and buggy” doctor. Fortunately, technology has come a very long way since that time. Researchers at …

Voelcker Fund Gives $100,000 in Support of Texas 1000 Project

August 2, 2016 The Max and Minnie Tomerlin Voelcker Fund recently gave a $100,000 gift to the Retina Foundation of the Southwest for the Texas 1000 Project, an ambitious project with an overall goal to genotype 1,000 patients with inherited …