New discovery of genes related to retinal dystrophies

In a study funded by the US National Institutes of Health, scientists and experienced doctors discovered that the UBAP1L gene is associated with different forms of retinal dystrophy, including macular hole disease, cone and rod dystrophy.

Retinal images from study participants show different forms of degeneration. (Source: NEI)

In 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.

IRDs affect more than 2 million people worldwide, according to the US National Institutes of Health. 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 providing genetic testing to patients with retinal dystrophies, said study co-author Laryssa A. Huryn, MD, an ophthalmologist at the NIH National Eye Institute. They also highlight the importance of collaboration between clinics and laboratories to better understand retinal diseases, paving the way for genetic testing, clinical trials, and the development of appropriate therapies.

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