Researchers identify gene linked to inherited retinal dystrophy
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The loss of UBAP1L gene function appears to be associated with nonsyndromic retinal dystrophy, according to research published in JAMA Ophthalmology.
“Inherited retinal dystrophies (IRDs) present a challenge in clinical diagnostics due to their pronounced genetic heterogeneity,” Ehsan Ullah, PhD, technical laboratory director at the National Eye Institute’s Ophthalmic Genomics Laboratory, and colleagues wrote. “Despite advances in next-generation sequencing technologies, a substantial portion of the genetic basis underlying IRDs remains elusive.”
In a case series study, Ullah and colleagues conducted comprehensive ophthalmic assessments on six unrelated patients with IRDs from four tertiary hospitals in the U.S. and U.K., as well as exome or genome sequencing.
The researchers identified four homozygous variants of the gene UBAP1L that were linked to various retinal dystrophies, including maculopathy, cone dystrophy and cone-rod dystrophy, which presented in early adulthood.
“The patients in this study showed symptoms and features similar to other IRDs, but the cause of their condition was uncertain,” Bin Guan, PhD, study author and chief of the Ophthalmic Genomics Laboratory, said in a related NIH press release. “Now that we’ve identified the causative gene, we can study how the gene defect causes the disease and, hopefully, develop treatment.”
According to the release, the UBAP1L gene now joins a list of more than 280 genes responsible for inherited retinal disease.
“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,” Laryssa A. Huryn, MD, study author and ophthalmologist at the National Eye Institute, said in the release.
Reference:
- Scientists discover gene responsible for rare, inherited eye disease. https://www.nih.gov/news-events/news-releases/scientists-discover-gene-responsible-rare-inherited-eye-disease. Published Sept. 26, 2024. Accessed Oct. 8, 2024.
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