Molecular Genetics of Human Eye Development

Group Leader(s): Professor Nicola Ragge

Contact: +44 (0)1865 484413

About us

Our group works on understanding the nature and genetic basis for human congenital eye anomalies. The genes involved in eye development are of fundamental importance not only for eye development, but also for maintaining the health of the eye into old age.

Genetic disruption can lead to a failure of correct formation of the eye, at its most severe to Anophthalmia (congenital absence of the eye), or formation of a smaller eye (Microphthalmia) with an anomaly, such as Coloboma (gaps in the layers of the eye) or cataract. Many of the genes involved in eye morphogenesis are also critical to growth and development of other systems, for example the brain, kidney, heart and limbs.

By recruiting a unique cohort of over 400 individuals and their families with eye anomalies through a national eye and brain developmental anomalies study based at Oxford Brookes University and the West Midlands Regional Genetics Service, and working with a network of collaborators both in the UK and abroad, our group has been able to identify new genes and pathways responsible for eye developmental anomalies in humans.

Together, we have used a variety of approaches, including targeted gene panel sequencing, whole exome and whole genome sequencing, candidate gene sequencing, homozygosity mapping, array CGH (comparative genomic hybridization), zebrafish modelling, and functional studies.

Research group logo

Research impact

Structural eye disorders including Anophthalmia (missing eye), Microphthalmia (small eye) and Coloboma (gap in the eye structures) (AMC) cause around 25% of childhood blindness. They are usually caused by a genetic alteration in one of the many genes underlying eye development. Genetic diagnosis of affected families allows for accurate advice regarding recurrence risk for families and affected individuals and for prenatal or preimplantation genetic diagnosis. Furthermore, it may enable early sight preserving treatment options - and for these congenital anomalies, rapid early diagnosis is of utmost importance as any treatment is likely to be of maximum benefit in early life.

Professor Nicola Ragge and her team are dedicated to the identification of new AMC genes and characterising the conditions to enable doctors worldwide to do this for their patients and provide accurate diagnosis and genetic counselling. Since commencing at Oxford Brookes University, Professor Ragge and team have been involved in identifying 6 new genes, and characterising 10 new conditions for the benefit of patients and families, and professionals worldwide. They have developed groundbreaking methods for rapid and efficient genetic diagnosis of AMC, and are acting as advisors to NHS England to develop national standardised NHS testing for these conditions.


Nicola Ragge

Professor Nicola Ragge

Baillie Gifford Professor of Developmental Eye Genetics

View profile



Name Role Email
Dr Dorine Bax Research Co-ordinator
Dr Fabiola Ceroni Senior Research Fellow
Dr Bertrand Chesneau Visiting Researcher
Dr Sam Clokie Visiting Researcher
Dr Richard Holt Research Fellow/Senior Post-Doctoral Research Associate
Ms Karthikah Jeganathan Research Assistant
Dr Solomon Merepa Postdoctoral Research Assistant
Dr Lidiya Talbot Research Fellow - Genetics of Eye Development
Dr Hande Tunbak Research Fellow
Dr Fiona Watkins Research Coordinator

Our research themes

Our aims are to:

  • identify and characterise early eye developmental genes that when disrupted give rise to Anophthalmia, Microphthalmia, Coloboma and other developmental eye anomalies
  • define Anophthalmia-Microphthalmia (AM) syndromes
  • develop diagnostic genetic tests for affected individuals with AM
  • understand the oligogenic and gestational factors that may contribute to the development and severity of developmental eye anomalies
  • understand the functionality of brain pathways when input from one or both eyes is absent.