Spotlight on incurable childhood glaucoma

A newly found gene that causes severe glaucoma in children could lead to a future cure

Young childs eye

Finding one cause of primary congenital glaucoma (PCG) is the first step towards a cure, concludes an international research team in a new Journal of Clinical Investigation paper.

The disease is caused by defects in the aqueous humour outflow vessels in the anterior chamber of the eye, the research noted.

The newly identified gene, TEK, is involved in the normal development of Schlemm’s canal, which drains these fluids. In a study of 189 unrelated families with a history of PCG, 10 were found to have mutations in TEK that meant the protein failed to work properly, Northwestern University nephrology and hypertension chief, Dr Susan Quaggin, explained.

Not all cases of PCG were related to TEK, but Dr Quaggin highlighted that: “With TEK, we know exactly what’s going wrong, which means we’ve identified a pathway that could be a great new therapeutic target for severe glaucoma and even more common forms of the disease.”

Dr Quaggin’s group are now developing an eye drop that repairs the function of TEK in order to fix the faulty Schlemm’s canal, and looking at TEK in adults with glaucoma.

Image credit: Peasap