Dr. Rachida Bouhenni, scientific and operations director for the Center for Vision Science Research at Akron Children’s, is working on a new treatment for congenital pediatric glaucoma, a rare condition caused by a genetic mutation that can lead to blindness in children. Currently, the only treatment available is surgery. Dr. Bouhenni wants to change that.
The enzyme replacement therapy being developed by Dr. Bouhenni and scientists through the Rebecca D. Considine Research Institute is created in a lab from the enzyme produced by the malfunctioning gene. If successful, the enzyme could be injected into a child’s eye shortly after birth.
“The enzyme is expected to eventually restore their vision,” explained Dr. Bouhenni. “If it works, this will be the first therapy of its kind. It will be both economically beneficial and safer than surgery; and it will enhance the life of the child born with this disease.”
Glaucoma is a group of diseases that damage the eye’s optic nerve and can lead to vision loss and blindness. Elevated eye pressure due to improper drainage of fluid is the main risk factor for glaucoma. Pediatric glaucoma is categorized as either primary or secondary.
Primary pediatric glaucoma is a genetic condition often diagnosed within the first year of a child’s life and occurs in 1 in every 10,000 births in the United States, although it’s much more common in other parts of the world. 10% of primary congenital glaucoma cases are present at birth, and 80% are diagnosed by age one.
Juvenile or secondary pediatric glaucoma is much more common and can occur at any time during childhood. It may be the result of an underlying medical condition, but it typically develops following trauma or eye surgery, such as cataract removal. Most children who have cataract surgery will develop secondary glaucoma within 3-5 years of the procedure.
“Early diagnosis and treatment is the key to preventing vision loss in glaucoma,” said Dr. Bouhenni. “So we encourage parents to look for symptoms and signs of glaucoma in their children and take them to a pediatric ophthalmologist, especially if the disease runs in the family.”
Although glaucoma can have a devastating impact on a child’s quality of life, early interventions and periodic vision monitoring can allow the child to live a normal life with good vision. Visible signs of pediatric glaucoma include excessive tearing, large eyes, cloudy corneas and sensitivity to light. Treatment currently includes medications to control eye pressure and surgery depending on the cause and severity of the disease. Periodic follow-up is important to confirm that the glaucoma is not progressing even if it’s controlled.
Dr. Bouhenni is optimistic that the pre-clinical trial phase of this research study will result in further development of an enzyme replacement therapy for congenital glaucoma, eventually offering a safer alternative to the current surgical treatment.
“If the enzyme replacement therapy is successful in replacing the defective gene that causes primary congenital glaucoma, it could also lead to similar treatments for other types of pediatric eye conditions caused by the same gene, such as Peters’ and Rieger’s anomalies,” said Dr. Bouhenni. “It’s very exciting and promising research that could dramatically improve the quality of life for children everywhere.”