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 Counseling

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 …

Rp

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

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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CHM color picture of the retina

Choroideremia Research Is Necessary to Help Prevent Blindness at an Early Age

June 16, 2020 Choroideremia is an X-linked, recessive, inherited retinal disorder that affects 1 in 50,000 individuals. X-linked refers to the X chromosome, which is one of the chromosomes that determines gender. Females receive an X chromosome from each parent; …

Oct

In-Depth Vision Evaluations & Research Updates for Retinal Diseases – Video Update

May 15, 2020 Yi-Zhong Wang, Ph.D., Director, Macular Function Laboratory, discusses visual function and imaging evaluation for patients with retinal diseases and his deep machine learning project in the video update below. This update is relevant for those interested in …