UBAP1L Gene May Be Linked with Retinal Dystrophy: JAMA Ophthalmology
Scientists at the National Institutes of Health (NIH) 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 threaten vision. The study’s findings were published in. JAMA Ophthalmology.
In a small study of six unrelated participants, researchers linked the gene UBAP1L to different forms of retinal dystrophies. The patients had symptoms of retinal dystrophy starting in early adulthood and progressing to severe vision loss by late adulthood.
“The patients in this study showed symptoms and features similar to other inherited retinal diseases, but the cause of their condition was uncertain,” said Bin Guan, Ph.D., chief of the Ophthalmic Genomics Laboratory at NIH’s National Eye Institute (NEI) and a senior author of the report. “Now that we’ve identified the causative gene, we can study how the gene defect causes disease and, hopefully, develop treatment.”
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