NEI Research News

Understanding the key structural determinants of a highly specialized membrane in the eye could lead to new treatments.

International effort identified new and different causative gene variants for a group of diseases that can lead to severe vision loss or blindness.

A gene therapy protects eye cells in mice with a rare disorder that causes vision loss, especially when used in combination with other gene therapies, shows a study published in eLife.

Scientists at the University of Pennsylvania School of Veterinary Medicine report findings of a gene therapy to treat a severe form of Leber congenital amaurosis, caused by mutations in the NPHP5 gene.

NEI-funded research at Scripps Research Institute has turned up more than a dozen gene variants linked to MacTel, a rare eye disease. The variants are likely causing the condition to develop and worsen for a significant share of patients.

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.