​New genetic test leads to faster, more accurate diagnosis of childhood eye disorders

A new test to help diagnose and predict a range of serious childhood eye conditions has been developed by researchers at Great Ormond Street Hospital (GOSH) and the UCL Great Ormond Street Institute of Child Health (ICH).

The gene panel test, known as Oculome, screens for mutations in more than 400 genes that are known to lead to eye disease, including those that can cause malformations of the eyeball and those linked to inherited retinal degeneration and cataracts. It was developed by Professor Jane Sowden’s research group at ICH and the GOSH Genetics Laboratory led by Dr Lucy Jenkins.

1 in 2,500 children in the UK are diagnosed as blind or severely visually impaired by the time they reach one year old and as many as half of these cases are likely to be due to genetic errors that arise in the DNA or are passed on from the child’s parents. Many congenital eye disorders can involve additional metabolic, developmental, physical or sensory abnormalities and the large number of genes involved makes diagnosis difficult. The new test increases the chances of diagnosis as a very large number of genes can be examined.

By sequencing over 400 genes at once the new genetic panel test can help pinpoint the exact mutation that is causing the condition offering a faster, more accurate diagnosis and meaning that patients can get access to the most appropriate care. The test can also help determine if parents are likely to have another child with the same disease and can allow doctors to determine whether the visual impairment is likely to get worse or lead to other complications - for example in the hormonal or metabolic system.

The genetic panel test was reviewed by the UK Genetic Testing Network, an advisory organization that oversees genetic testing across the NHS and has been approved to be offered on a national basis. It is currently available at the North East Thames Regional Genetics Service, which is based at GOSH.

As part of the National Institute for Health Research (NIHR) GOSH Biomedical Research Centres (BRC) Advanced Treatments for Structural Malformation and Tissue Damage, researchers at GOSH are now using insights from these tests to help develop novel gene and cell therapies to treat these debilitating visual impairments.

Development of this new test and its translation from research to a diagnostic service was funded by grants from the Rosetrees Foundation, MACS (Microphthalmia, Anophthalmia and Coloboma Support supporting children without eyes or underdeveloped eyes) and Moorfields Special Trustees with support from the NIHR BRC’s at GOSH and Moorfields Hospital.