Gene discovered that causes rare genetic eye disease

Scientists and experienced doctors have discovered that the UBAP1L gene is associated with different forms of retinal dystrophy, including macular hole disease, cone and rod dystrophy.

According to a new study published in the journal JAMA Ophthalmology this week, US researchers have identified a gene that causes several inherited retinal diseases (IRDs) - a group of disorders that damage the eye's light-sensitive retina and threaten a person's vision.

American researchers have identified a gene that causes some inherited retinal diseases (IRD). (Illustration: iStock).

IRD affects more than 2 million people worldwide, according to the US National Institutes of Health (NIH).

Each individual disease is rare, complicating efforts to identify enough people to study and conduct clinical trials to develop treatments.

In an NIH-funded study, scientists and experienced physicians discovered that the UBAP1L gene is associated with different forms of retinal dystrophy, including macular hole disease, and rod and cone dystrophy.

The findings underscore the importance of offering genetic testing to patients with retinal dystrophies, said study co-author Laryssa A. Huryn, MD, an ophthalmologist at the NIH National Eye Institute.

In addition, this discovery also highlights the role of collaboration between clinics and laboratories to better understand retinal diseases, thereby paving the way for genetic testing, clinical trials and development of appropriate treatments.