The discovery of a gene which causes night blindness is an important step in understanding the problem, but it will take years to determine if treatment to mitigate — or possibly cure — the condition is even possible, says Dr. Torben Bech-Hansen.
Bech-Hansen, a researcher in the Faculty of Medicine at the University of Calgary, led an international research team in the discovery of the gene they named NYX. Findings of the 13-year project will be published today (Wednesday) in one of the world’s top journals, Nature Genetics.
“The most immediate thing is you can do diagnostics right now,” Bech-Hansen said Monday at a news conference announcing the discovery. “DNA can be extracted from the blood. It will help ophthalmologists differentiate between different conditions that are quite complicated.”
Bech-Hansen and his 15 international co-authors found that the NYX gene produces a protein they named nyctalopin. The protein is fundamental to how visual signals are transmitted within the eye, playing a critical role in how specific nerve cells connect in the retina.
When the gene is mutated, said Bech-Hansen, it produces a defective nyctalopin protein that leads to malfunctions in the transmission of light signals in the retina.
The condition is present at birth and is not degenerative, he said. In day-to-day situations it means children can’t play on a soccer field at dusk, or adults have a difficult or impossible time driving in underground parkades or seeing in dimly lit restaurants. At its worst, people are considered legally blind.
It’s premature to discuss the long-term spin-offs of the discovery, said Bech-Hansen.
“Understanding how the normal protein functions, what role does it have in the retina . . . it will take years.”
Once researchers understand if the protein is important in regenerating the retina, then it will be possible to see if some drugs might alter the protein to reverse the disease, he explained.
Bech-Hansen stressed that the NYX gene is just one cause of night blindness. There are many other medical and nutritional conditions that can cause the condition.
