The inherited eye disease, called Leber congenital amaurosis, usually shows its first signs at birth or in the months following. It affects about one in 80,000 newborns. About 1,000 Canadians live with the effects.
Scientists at Montreal's McGill University and their co-authors have identified that a gene called NMNAT1 can cause LCA.
"We're getting closer to finding 100 per cent of the genes causing Leber congenital amaurosis," said Dr. Robert Koenekoop, director of the McGill Ocular Genetics Laboratory, who led the research team. "That gives an immediate relief to the families, because it confirms the diagnosis [and] gives you a treatment avenue."
The disease was considered untreatable, but that is no longer the case for some subtypes, Koenekoop said.
For the study in this week's issue of Nature Genetics, scientists analyzed the genomes of 60 infants with LCA of unknown cause.
They discovered a mutation on the NMNAT1 gene, which is found in all human cells. It produces a coenzyme called NAD that is involved in hundreds of reactions.
Seeing the sky
The new findings suggest that NMNAT1 acts to protect photoreceptor cells in the retina from degeneration in response to damage or stress.
Dale Turner of Toronto grew up with limited central vision from LCA until an experimental gene therapy surgery four years ago restored much of his vision.
"On the third day, I peeled back the patch and I was able to see things like never before," Turner recalled. "The sky was the most blue I'd ever seen it. I couldn't really see colours before the gene therapy procedure and I could after. I think that just represents so much hope."
Turner's experience has already helped doctors learn to recruit patients and design a clinical trial, which could speed up the next round of research, Koenekoop said.
The other authors of the study were from Houston; Chicago; Cleveland; London; Lahore, Pakistan; Shanghai; and Leeds, U.K., while steering committee members came from Ottawa, Vancouver, Calgary, Toronto and St. John's.
The research was funded by the Foundation Fighting Blindness Canada, Finding of Rare Disease Genes in Canada (FORGE Canada), Genome Canada, the Canadian Institutes of Health Research, Ontario Genomics Institute, Genome Quebec and Genome British Columbia.