NEI Research News

A new study challenges the traditional understanding of disease genetics for IRDs and other rare genetic diseases according to the researchers, and may have implications for the clinical use of genetic testing and the development of new treatments.

Scientists at the National Eye Institute and their colleagues have identified a gene responsible for some inherited retinal diseases (IRDs), which are a group of disorders that damage the eye’s light-sensing retina and threatens vision.

The team identified small molecules that can reduce the production of proteins linked to age-related macular degeneration.

Led by researchers at the National Institutes of Health (NIH), a team of scientists has uncovered the complex molecular mechanisms underlying neurodegenerative disorders linked to the gene PNPLA6.

Using a new experimental technique to fix faulty eye cells, a team led by University of Wisconsin researchers was able to repair a gene mutation that causes one form of childhood blindness.

University of California Irvine (UCI) researchers believe they have discovered a special antibody that may lead to a treatment for an inherited eye disease called retinitis pigmentosa.

Developed by NIH scientists, the model also sheds light on developmental eye disorders such as coloboma.

Using a new imaging technique, researchers from the National Eye Institute have determined that retinal lesions from vitelliform macular dystrophy (VMD) vary by gene mutation.

A new study reveals how photoreceptors grown from stem cells might extend biological wires, known as axons, to contact existing neurons.

A 28-patient phase 1 gene therapy clinical trial for the degenerative retinal disease Leber hereditary optic neuropathy (LHON) found no significant safety concerns; however, treatment failed to improve or slow vision loss, with even the highest dose.