In a significant development in the field of ophthalmology, researchers from the National Institutes of Health (NIH) and other institutions have discovered a gene that has been linked to certain inherited retinal diseases (IRDs). IRDs are a group of disorders that harm the retina, the part of the eye that detects light, leading to potential vision loss. Despite affecting over 2 million people globally, each specific IRD is rare, making it challenging to gather enough individuals for research and clinical trials.
The new research, published in JAMA Ophthalmology, highlighted the gene UBAP1L and its connection to various forms of retinal dystrophies. These include conditions impacting the macula (the central vision area used for reading), the cone cells responsible for colour vision, and the rod cells necessary for night vision. Subjects exhibited symptoms of retinal dystrophy from early adulthood, which intensified into severe vision loss by late adulthood.
Dr. Bin Guan, head of the Ophthalmic Genomics Laboratory at NIH’s National Eye Institute (NEI), stated that the patients showed symptoms resembling other IRDs, but the root cause remained unclear until the discovery of the UBAP1L gene. This breakthrough will allow researchers to study how the gene defect initiates disease and hopefully develop an effective treatment.
This discovery adds the UBAP1L gene to the growing list of over 280 genes responsible for these diverse diseases. Dr. Laryssa A. Huryn, an ophthalmologist at the NEI and co-senior author of the study, pointed out the significance of genetic testing for patients with retinal dystrophy. This collaboration between clinics and labs is crucial in gaining a better understanding of retinal diseases.
During the genetic evaluation, four variants in the UBAP1L gene were revealed. This gene codes for a protein that is profusely present in retina cells. Although the exact function of the UBAP1L gene remains undefined, the identified variants seem to cause the gene to generate a non-functional protein.
The study also noted that these gene variants appear to be unique to specific geographic regions. Most of the families in the study hailed from South or Southeast Asia and Polynesia, areas previously underrepresented in genetic studies.
This research was a joint effort led by investigators at Moorfields Eye Hospital and University College London, and supported by the Intramural Research Program at the NEI, along with NEI grants. Contributions were also made by researchers at the University of Liverpool (UK), and Baylor College of Medicine, Houston, Texas.
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