‘Lazy eye’ (strabismus), a rare eye disease might get a new treatment with a latest discovery done by researchers at the University of Aberdeen. They have found that the disease is linked to a gene in the nervous system.
The gene – CHN1 when mutated, produces a gene byproduct – the hyperactive a2 chimerin which leads to eye disorder.
This discovery has been published in the journal Science.
Researchers note that the family history of people suffering from Duane’s Retraction Syndrome (DRS) has shown seven mutations in the gene CHN1. This has been blamed on the irregular development in the cranial nerve III that is required for the normal eye development during birth.
Dr Maria Psatha, University of Aberdeen who co-authored the paper notes that, “In normal eye movements, 3 cranial nerves control 6 eye muscles, which control the movement of each eye horizontally, up and down, or at an angle. In DRS, miswiring between the muscles and the nerves can cause some eye muscles to contract when they should not and other eye muscles not to contract when they should. This typically occurs around the sixth week of pregnancy when the cranial nerves and eye muscles develop. During this time, the mutations of the gene of CHN1 have now been shown to explain the pathophysiology of the DRS disorder.”
“I have been very fortunate to be part of a very fruitful international interdisciplinary collaboration that resulted in a high impact paper reporting the findings of the gene responsible for an important yet rare eye disorder that affects children. I look forward to more collaboration of this calibre in the very vibrant environment of the University of Aberdeen,” added Dr Psatha.
The disorder of the eye movement seems to affect 1 percent of the general population over the world. Now that the main cause of the disease has been identified, a treatment can be surely weaved around based on the findings, targeting the mutated genes.