New research shows how the mutation associated with Batten disease could potentially lead to degeneration of light sensing photoreceptor cells in the retina, and subsequent vision loss.

Researchers at the University of Illinois Chicago have published a study showing a promising approach to using drug repurposing to treat genetic diseases.

Scientists at the University of Wisconsin‒Madison have published a proof-of-concept method to correct an inherited form of macular degeneration that causes blindness, and that is currently untreatable.

In experiments in rats and mice, two Johns Hopkins scientists report the successful use of nanoparticles to deliver gene therapy for blinding eye disease.

New NEI-supported research provides insight into the eye conditions associated with Marfan syndrome, where weakened zonule fibers cause vision problems.

University of Maryland-led study identified the first gene responsible for eye loss in cavefish, revealing connection to a human vascular disease.

Oregon National Primate Research Center at OHSU reports first-ever nonhuman primate model for Bardet-Biedl Syndrome

The Knights Templar Eye Foundation has awarded two NEI scientists grants to research inherited retinal degenerations, diseases that can cause blindness in early childhood.

A small pilot clinical study at the National Eye Institute (NEI) suggests that the drug nitisinone increases melanin production in some people with oculocutaneous albinism type 1B (OCA-1B), a rare genetic disease that causes pale skin and hair and poor vi

A new form of therapy may halt or even reverse a form of progressive vision loss, spinocerebellar ataxia type 7 (SCA7). This new therapy has the potential to treat neurogenetic diseases effectively and with far fewer side effects than other medications.