Researchers and experienced doctors have discovered the gene UBAP1L is associated with various forms of retinal dystrophy, including macular hole disease, cone dystrophy, and rod dystrophy.
According to a new study published this week in JAMA Ophthalmology, American researchers have identified a gene responsible for several inherited retinal diseases (IRD)—a group of disorders that damage the retina’s light-sensitive cells and threaten patients’ vision.
American researchers have identified a gene responsible for several inherited retinal diseases (IRD). (Image credit: iStock).
The National Institutes of Health (NIH) states that IRD affects more than 2 million people worldwide.
Each individual disease is rare, complicating efforts to identify a sufficient number of subjects for research and conduct clinical trials aimed at developing treatment methods.
In the NIH-funded study, experienced scientists and doctors found that the gene UBAP1L is linked to various forms of retinal dystrophy, including macular hole disease, cone dystrophy, and rod dystrophy.
Co-author of the study, ophthalmologist Laryssa A. Huryn at the NIH National Eye Institute, emphasized that this discovery highlights the importance of providing genetic testing for patients with retinal dystrophy.
Furthermore, this finding underscores the role of collaboration between clinics and laboratories to gain a better understanding of retinal diseases, paving the way for genetic testing, clinical trials, and the development of appropriate therapies.
