Developing molecular diagnosis and improved genetic counselling for children with inherited and developmental eye disease
Mr Yassir Abou-Rayyah leads a service for children born with very small or absent eyeballs.
Together with Professor Jane Sowden at the UCL Institute for Child Health, Dr Dahlmann-Noor and her research team investigate the genetic changes that cause incomplete development of the eyes. In most cases, the causes are not known for these conditions. Our current research is developing a new genetic diagnostic test using ‘next generation sequencing’. More than 200 families are taking part in this study. This test screens all genes known to cause childhood eye conditions and its use will increase knowledge of the specific genetic changes causing developmental conditions, including microphthalmia, anophthalmia and coloboma but also childhood glaucoma and other retinal dystrophies. The new test will soon become available to ophthalmologists and clinical geneticists across the UK. It will also provide more families with knowledge of the genetic cause of the condition.
Another important research study is investigating the quality of life of children (and their parents) diagnosed with congenital eye defects. If only one eye is affected, visual function in the other eye is usually normal but if both eyes are affected, children may be severely sight impaired. In addition, the appearance of small eyes can affect social interaction. The findings will soon be published of our survey of 200 children (and their families) with congenital eye defects.