Loss Of UBAP1L Gene Function Linked To Nonsyndromic Retinal Dystrophy, Research Suggests
October 10, 2024
Healio (10/9, Young) reports, “The loss of UBAP1L gene function appears to be associated with nonsyndromic retinal dystrophy, according to research.” The investigators “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 findings were published in JAMA Ophthalmology.