Anophthalmia and microphthalmia are severe debilitating conditions, and while some disease genes are known, they only contribute to a small number of cases. Our exome sequencing work in patients with this group of disorders suggests that variants in a number of genes may contribute to the disorder in any one particular patient. Our study of a large family has identified a novel contributor disease gene which is important in the Wnt signalling pathway. Study of further patients is underway to examine the wider impact of variation in this gene in other patients and families.
to Save Sight Institute’s mailing list for news and updates