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Genetic mutation tied to congenital nystagmus
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Mutations in the gene FRMD7 may cause X-linked idiopathic congenital nystagmus, a study found.
Patrick Tarpey, of Cambridge, England, and colleagues studied 26 families with a history of congenital nystagmus and identified 22 mutations in FRMD7. The researchers subsequently screened 42 individual patients with the disorder and found three (7%) mutations.
The researchers also observed restricted expression of FRMD7 in human embryonic brains and developing neural retinas, suggesting that the gene does influence the control of gaze stability and eye movement, the study authors said.
The study is published in the November issue of Nature Genetics.
In a press release from the University of Leicester, coauthor Irene Gottlob, MD, said, "Further research is now needed to understand what functional changes in the brain the gene mutations are causing. This will be the first time the mechanisms of nystagmus have been understood, and we hope it will lead to better drug treatments. Understanding the mechanism of nystagmus will also improve our knowledge of the control in eye movements in general."