Eye health

Genetic eye conditions account for over 15% of childhood blindness worldwide. This includes children born with no eyes (known as anophthalmia), abnormally small eyes (microphthalmia), or an unfused cleft in the eye (ocular coloboma). There are no treatments available, resulting in a profound life-long impact on both patient and family.

Over the past 7 years, Prof Mariya Moosajee from University College London has been researching advanced genetic testing, taking patients from an 8% to a 33% chance of receiving a genetic diagnosis. Her team are now focused on the over 300 families remaining who are yet to receive a diagnosis. Prof Moosajee aims to identify new disease-causing mutations across the genetic code and to explore possible environmental influences as well.

The team will use Foundation funding to study the effect of alcohol and vitamin deficiencies on the early chicken eye. They aim to explore new, undiscovered genes and genetic pathways that are involved in eye formation. The researchers will then cross-check these genes with the unsolved families. Prof Moosajee's goal is to improve diagnostic rates, enabling the best possible assembly of multidisciplinary professionals to manage patient care and provide family counselling on reproductive options. Her team also aim to begin identifying potential therapeutic targets that may encourage eye growth and vision maturation.