Changes in over a hundred different genes are known to cause these conditions, and just over 20 percent of patients will receive a genetic diagnosis. We are working hard to discover all the genes known to cause this condition.

One way that we're trying to understand more about what's happening in early eye development, and how Microphthalmia occurs, is using stem cells. Stem cells are a special kind of cell which can form any cell type in the body, by switching on the right combination of genes. We can make stem cells from skin, or blood cells of adults. To do this we take a small biopsy of skin, just a few millimetres wide and from this skin we can grow the skin cells in a dish. We then add some growth factors, alongside a burst of electricity, which induces the cell to form stem cells. Once we have made the stem cells, we can provide them with certain nutrients which encourage the stem cells to turn on genes needed to form an early eye. These can then form a 3D structure which we can use to study how the eye forms. We can make these stem cell models from individuals with MAC conditions, so the cells contain the genetic changes which cause their eye condition. By studying these cells, we can look at how DNA changes disrupt eye development and cause Microphthalmia. These models can also be used to test new drugs and develop treatments.