Hope for babies born with eye defects

Using stem cells to grow a 3D model eye could give new hope to patients who are born without eyes or with underdeveloped eyes.

A consultant ophthalmologist at Moorfields Eye Hospital NHS Foundation Trust has been awarded £1.1million from the Wellcome Trust for a Clinical Research Career Development Fellowship.

The grant will go towards research investigating the genes that cause ocular maldevelopment.

Dr Mariya Moosajee told OT that while 20% of all children registered blind in the UK suffered from birth eye defects, only a few genetic causes had so far been identified.

She explained that working as a clinician motivated her in her research.

“Patients come to the clinics and they have been told by other doctors that there is no treatment and that really there is no hope,” she highlighted.

“That is what motivates me. I want to be the person who can give hope to these patients,” she emphasised.

The funding will allow researchers to create a 3D model eye using stem cells derived from a patient’s skin. Gene editing technology will then be used to correct the defective gene to see if the cells can grow into healthy eyes.

“If we have a good model, we can then start to not only identify potential treatment targets, but develop those treatments and test them on the model,” Dr Moosajee highlighted.

Lack of answers

Only 5 to 6% of patients with ocular maldevelopment receive a genetic diagnosis, despite the fact that environmental factors are unlikely to be the cause in the vast majority of cases.

There was a dearth of scientific investment in the area of ocular maldevelopment, Dr Moosajee explained.

“The funding is crucial for patients. One of the reasons I was so excited to receive it is I could see the clinical and scientific need,” she highlighted.

The ideal outcome would be to give ocular maldevelopment patients a genetic diagnosis in between 50 and 60% of cases, Dr Moosajee said.

The funding would allow for a genome screening of patients with birth eye defects, providing an accurate genetic diagnosis and access to genetic counselling.

Dr Moosajee emphasised that if a patient had ocular maldevelopment, there was a significant risk that they would also have physical problems associated with the condition.

“By knowing the gene, we can intercept it early. If we know the child may develop hearing problems or kidney problems, we can make sure they have the appropriate care from a multi-disciplinary team and we can minimise the complications that can arise.”

What next?

Over the next five years, researchers aim to identify genes responsible for ocular maldevelopment and understand what happens in normal eye development.

Dr Moosajee emphasised that she was confident researchers would have some treatment targets by the end of the five-year period.

“For patients, knowing that they have people working on their condition gives them a lot of hope and actually makes them positive about their future,” she concluded.

Image credit: Moorfields Eye Hospital