Scientists have discovered a gene that plays a role in certain inherited retinal diseases (IRDs), which are conditions that damage the retina—the part of the eye responsible for sensing light—and can jeopardize vision. Even though IRDs impact over 2 million individuals globally, each specific type of the disease is uncommon, making it challenging to find enough patients for research and clinical trials aimed at treatment development.
A team of scientists from the National Institutes of Health (NIH) has found a gene that is linked to certain inherited retinal diseases (IRDs), which are disorders that harm the retina and put vision at risk. Despite affecting more than 2 million people worldwide, each specific type of IRD is relatively rare, making it difficult to gather sufficient participants for studies and trials needed to create treatments. The results of the study were published today in JAMA Ophthalmology.
In a limited study involving six participants who were not related, researchers connected the gene UBAP1L to various forms of retinal dystrophies. These included conditions affecting the macula (which is vital for central vision and activities like reading, known as maculopathy), problems with cone cells that enable color vision (cone dystrophy), and a disorder that impacts both cone and rod cells, which are important for night vision (cone-rod dystrophy). The participants began exhibiting symptoms of retinal dystrophy in early adulthood, which progressed to severe vision loss by late adulthood.
According to Bin Guan, Ph.D., head of the Ophthalmic Genomics Laboratory at NIH’s National Eye Institute (NEI) and one of the senior authors of the study, “The patients in this study displayed symptoms and characteristics similar to other IRDs, but the underlying cause was unclear. Now, with the identification of the causative gene, we can investigate how this gene defect leads to the disease and hopefully work towards developing a treatment.”
Connecting the gene UBAP1L to these diseases adds to the collection of over 280 identified genes responsible for these diverse conditions.
Laryssa A. Huryn, M.D., an ophthalmologist at NEI and co-senior author of the paper, remarked, “These discoveries underline the need for genetic testing in our patients with retinal dystrophy and the significance of collaboration between clinics and laboratories to enhance our understanding of retinal diseases.”
The genetic analysis of the six participants revealed four variants in the UBAP1L gene, which encodes a protein that is significantly present in retinal cells, such as retinal pigment epithelium cells and photoreceptors. While further investigation is required to clarify the specific role of the UBAP1L gene, researchers believe the identified variants likely result in a dysfunctional protein being produced.
Future research will be shaped by the finding that these variants seem to be unique to certain geographic areas. Notably, five of the six families in this study originated from South or Southeastern Asia, or Polynesia, regions that have often been overlooked in genetic research.
The research was co-led by scientists from Moorfields Eye Hospital and University College London.
The study was supported by the Intramural Research Program at NEI and by NEI grants R01EY022356 and R01EY020540. Researchers from the University of Liverpool (UK) and Baylor College of Medicine in Houston, Texas also contributed to this work.
