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:
Bardet-Biedl Syndrome
Best Disease
Blue Cone Monochromacy
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? is a registry and results database of publicly and privately supported clinical studies of human participants conducted around the world.


Read about how we are researching inherited eye diseases.

September 21, 2018

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 …

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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 …

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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 …

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September 20, 2021

Retina Foundation is Major Center for Next Phase of Gene Therapy for X-Linked Retinitis Pigmentosa: SKYLINE

X-linked retinitis pigmentosa (XLRP) is an inherited eye disease that causes gradual vision loss in boys and young men. The …

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June 29, 2021

Assessing Mobility Vision and Retinitis Pigmentosa

Scientists in the Rose-Silverthorne Retinal Degeneration Laboratory at the Retina Foundation recently began a new clinical trial utilizing a mobility …

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