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Researchers identify childhood blindness gene

Clinical
Genetic mutation that contributes to ocular coloboma in babies is revealed

A study funded by vision charity Fight for Sight has revealed a genetic mutation that contributes to ocular coloboma in babies.

Researchers led by the University of Edinburgh said the findings shed light on its causes and help to explain how genes contribute to development of the eye.

Few genetic causes have so far been found to explain the cause of coloboma, the cause of up to 10 per cent of all childhood blindness.

George McNamara, director of research, policy and innovation at Fight for Sight, said: ‘Sight loss due to coloboma in children can be devastating. Very little is known about the cause, and this study has helped advance our knowledge about the development of the eye. As this work progresses, we have the opportunity to come closer to understanding the causes of childhood sight loss.’

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