Scientists discover a gene responsible for rare, hereditary eye diseases

In a small study of six unrelated participants, researchers linked the gene UBAP1L to various forms of retinal dystrophies, with problems affecting the macula, the part of the eye used for central vision such as reading (maculopathy), problems affecting the cone cells that make color vision possible (cone dystrophy) or a condition also the rod cells that make night vision possible (cone-rod dystrophy). The patients had symptoms of retinal dystrophy that began in early adulthood and progressed to severe vision loss by late adulthood.

“The patients in this study showed symptoms and characteristics similar to those of other IRDs, but the cause of their condition was uncertain,” says Bin Guan, Ph.D., chief of the Ophthalmic Genomics Laboratory at the National Eye Institute ( NEI) of the NIH and a senior author of the report. “Now that we have identified the causative gene, we can study how the gene defect causes disease and hopefully develop a treatment.”

Identifying the UBAP1L Gene involvement adds to the list of more than 280 genes responsible for this heterogeneous disease.

“These findings highlight the importance of offering genetic testing to our patients with retinal dystrophy, and the value of collaboration between the clinic and the laboratory to better understand retinal diseases,” said co-senior author of the paper, Laryssa A. Huryn, MD. an ophthalmologist at the NEI, part of the National Institutes of Health.

The genetic evaluation of the six patients revealed four variants UBAP1L gene, which encodes a protein that is abundantly expressed in retinal cells, including retinal pigment epithelial cells and photoreceptors. More research is needed to determine the UBAP1L the exact function of the gene, but scientists were able to determine that the identified variants likely cause the gene to produce proteins that have no function.

Future studies will also be based on the fact that variants appear to be distinctive across geographic regions. Five of the six families in this study were from South or Southeast Asia or Polynesia, regions underrepresented in genetic studies.

The study was co-led by researchers from Moorfields Eye Hospital and University College London.

The study was funded by the NEI Intramural Research Program and by NEI grants R01EY022356 and R01EY020540. Researchers from the University of Liverpool (UK) and Baylor College of Medicine, Houston, Tx also contributed to this report.