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Copyright © 2024 CGTN. 京ICP备20000184号
Disinformation report hotline: 010-85061466
U.S. researchers 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, according to a study published Thursday.
IRDs affect more than 2 million people worldwide. Each individual disease is rare, complicating efforts to identify enough people to study and conduct clinical trials to develop treatment, according to the U.S. National Institutes of Health (NIH).
In the study sponsored by NIH, researchers linked the gene UBAP1L to different forms of retinal dystrophies, including maculopathy, cone dystrophy or cone-rod dystrophy.
The findings paved the way for genetic testing, clinical trials, and therapy development, according to the study published in JAMA Ophthalmology.
"These findings highlight the importance of providing genetic testing to our patients with retinal dystrophy, and the value of the clinic and lab working together to better understand retinal diseases," said co-senior author of the study, Laryssa A. Huryn, an ophthalmologist at NIH's National Eye Institute.