Understanding microphthalmia
20 September 2022
Microphthalmia is diagnosed when a baby is born with abnormally small eyes. We supported the PhD studentship of Dr Philippa Harding which has increased our understanding of microphthalmia, and has the potential to help develop new treatments for patients at Moorfields and elsewhere.
In this project, Philippa, under the supervision of Professor Mariya Moosajee, investigated the causes of microphthalmia. This is a form of underdeveloped eye conditions, which occurs when a baby’s eyes do not form properly during pregnancy.
Other rare eye conditions
Learn more
Anophthalmia, the most severe condition, is when a baby is born without one or both eyes. It affects 1 in 100,000 babies.
Coloboma is a cleft or a gap in one or multiple structures of the eye, due to the eyeball not fusing completely during pregnancy. It is the most common of the underdeveloped eye conditions.
17 per 100,000
Births affected by microphthalmia
These conditions can affect one or both eyes and may occur with other eye conditions, such as childhood cataracts. They can also be associated with conditions where other organs and parts of the body have not formed correctly.
Microphthalmia is reported in up to 11% of childhood blindness worldwide, but there is no treatment. This has a profound life-long impact on both patient and family.
Management of the condition, currently focuses on preserving and maximising any existing vision and enhancing cosmetic appearance.
During her project, Philippa examined and compared clinical and genetic information from a cohort of 50 patients with microphthalmia, anophthalmia or coloboma from 44 families.
Key research discoveries and developments were:
- an increased rate of identifying genetic causes of microphthalmia from 8% to 33%
- establishing and optimising a 3D model of the developing human eye using stem cell technology
- identifying that the childhood cataract gene, EPHA2, is also involved in microphthalmia
- deriving a 3D model of microphthalmia with cells from a patient with a mutation in PAX6 gene.
This project illuminated molecular mechanisms of microphthalmia pathogenesis using investigation of patients, as well as patient-derived laboratory models of early eye development.
Professor Mariya Moosajee, Consultant ophthalmologist at Moorfields, and professor of molecular ophthalmology at UCL
The increase in genetic diagnoses can inform genetic counselling and disease prognosis.
The robust laboratory microphthalmia model will enable further investigations into potential treatments that would encourage growth and development of the eye after birth.
Achievements and next steps
Philippa was awarded her PhD in February 2022 and is continuing her academic career as a post-doctoral research associate at Kings College London.
Philippa’s work has resulted in eight publications in peer-reviewed journals, presentations at academic meetings and two best presentation prizes. She has also participated in public engagement events at schools and for patients and families.
Philippa Harding
One of the best opportunities in my PhD has been working directly with Moorfields Eye Hospital, including engaging with patients. This connection adds an extra dimension to the research I am doing as I can meet the people I am trying to help, and learn about what they want out of my research.
Philippa Harding, Postdoctoral research associate
We’re also proud to support a Clinical Research Training Fellowship PhD student, Dr Daniel Jackson, who is continuing the advancement of research into eye development and microphthalmia in Professor Moosajee’s lab.
