Scientists at the National Institutes of Health (NIH) have identified a gene responsible for some inherited retinal diseases (IRDs), which damage the eye’s light-sensing retina and threaten vision. IRDs affect over 2 million people worldwide, but each individual disease is rare, complicating efforts to identify and study enough people for clinical trials. The study, published in JAMA Ophthalmology, found that the gene UBAP1L is linked to various forms of retinal dystrophies, affecting the macula, cone cells for color vision, and rod cells for night vision.
In a small study of six unrelated participants, researchers discovered that the patients had symptoms of retinal dystrophy starting in early adulthood, progressing to severe vision loss by late adulthood. The identification of the UBAP1L gene’s involvement adds to the list of over 280 genes responsible for this heterogeneous disease. This breakthrough underscores the importance of genetic testing for patients with retinal dystrophy and collaboration between clinics and labs to better understand retinal diseases.
Genetic evaluation of the six patients revealed four variants in the UBAP1L gene, which encodes for a protein abundantly expressed in retina cells. The identified variants likely cause the gene to produce a non-functional protein. Future studies will explore the exact function of the UBAP1L gene and how the identified variants lead to disease. Notably, the variants appear to be distinctive to specific geographic regions, with five of the six families in the study being from South or Southeastern Asia, or Polynesia, regions historically underrepresented in genetic studies.
The research was co-led by investigators at Moorfields Eye Hospital and University College London and funded by the NEI’s Intramural Research Program and grants. Collaborators from the University of Liverpool and Baylor College of Medicine also contributed to the study. The findings highlight the value of further research into the genetic basis of retinal diseases and the potential for developing treatments targeting specific genes, such as UBAP1L. By identifying the genetic factors contributing to IRDs, researchers aim to improve diagnostic and treatment strategies for these rare but debilitating disorders.
Overall, this study sheds light on the genetic underpinnings of inherited retinal diseases and highlights the importance of genetic testing and collaboration between clinicians and researchers. The identification of the UBAP1L gene’s involvement in various forms of retinal dystrophies provides a promising avenue for future research and potential treatments. By expanding the understanding of genetic factors contributing to IRDs, scientists hope to improve outcomes for patients with these rare and challenging conditions.