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Inherited Eye Diseases

Vision loss and eye diseases can affect multiple generations of a family. Researchers have identified certain genes as responsible for eye diseases, such as retinitis pigmentosa and x-linked retinoschisis. Vision loss due to inherited eye disease could start at any life stage, from infancy through adulthood.

Inherited eye diseases that we research include:
Achromatopsia
Bardet-Biedl Syndrome
Best Disease
Blue Cone Monochromacy
Choroideremia
Cone Dystrophy
Cone-Rod Dystrophy
Congenital Stationary Night Blindness
Enhance S-Cone Syndrome
Juvenile X-Linked Retinoschisis
Leber Congenital Amaurosis
North Carolina Macular Dystrophy
Oguchi Disease
Pattern Dystrophy
Retinitis Pigmentosa
Sorsby Dystrophy
Stargardt Disease
Usher Syndrome

Can inherited eye diseases be corrected?
Your ophthalmologist, pediatrician, or family doctor may refer you or your child to the Retina Foundation of the Southwest for specialized evaluation, genetic testing, and diagnosis if an inherited eye disease is suspected. The earlier an inherited eye disease is caught, the better.

How is the Retina Foundation researching inherited eye diseases?
The Retina Foundation of the Southwest is working with partners around the country and the globe to research causes, treatments, and cures for inherited eye diseases. Our research is peer-reviewed and supported by prominent national agencies such as the National Eye Institute, the Food and Drug Administration, Fight for Sight, and the Foundation Fighting Blindness.

Where can information on clinical trials be found?
ClinicalTrials.gov is a registry and results database of publicly and privately supported clinical studies of human participants conducted around the world.


Studies

Read about how we are researching inherited eye diseases.

Genetic Testing and Counseling

Genetic sequencing for mutations causing inherited eye diseases in Texas (Texas 1000 Project) We are identifying disease-causing mutations using next-generation sequencing of 163 genes known to cause retinal degenerative diseases. As of July 2018, we have identified and genotyped more …

Retinitis Pigmentosa Research

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 …

X-linked Retinoschisis Research

X-linked retinoschisis natural history studies We are enrolling qualified patients with x-linked retinoschisis in order to measure disease progression in a group of patients with this disease. X-linked retinoschisis treatment trials We are studying the safety and efficacy of a …

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Retina Foundation Launches Cutting-Edge Artificial Intelligence Project

September 24, 2018 There is a great need for more information on the progression of vision loss caused by inherited eye diseases and age-related macular degeneration. The Retina Foundation of the Southwest is beginning a new project aimed at developing …

Retina Foundation Participates in International Effort to Treat Stargardt Disease

August 30, 2018 Stargardt disease is the most common form of inherited juvenile macular degeneration. Stargardt disease begins in late childhood and may in some cases lead to legal blindness. It affects approximately ten in 10,000 children and adults. There …