A Sydney researcher discovered a blinding eye condition which is affecting an entire family in Australia and others internationally – and hopes that her work could lead to a treatment.
Professor Robyn Jamieson is head of the Eye Genetics Unit at Children’s Medical Research Institute in Westmead, Sydney. Her team’s work in, collaboration with researchers in the US and The Netherlands, has just been published in Genetics in Medicine – which is the journal of the American College of Medical Genetics and Genomics.
It is the result of many years of work for Professor Jamieson, who is also a Clinical Geneticist at the Children’s Hospital at Westmead. She first met the White family in 2004 when Mum, Beth, came to her about vision loss. Four years ago, it was discovered that Beth’s three young children were also showing signs of vision loss as well as other symptoms which Professor Jamieson was intrigued by.
“I had seen the family and we knew that Beth had retinal dystrophy, but she also had these other unusual symptoms, including fever and headaches and issues in the optic nerve,’’ Prof Jamieson said. “We suspected there was a novel gene involved because of the unusual features.’’
Introductory text reproduced with permission from CMRI.
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