Gene Mutation Linked to Childhood Glaucoma

As co-owner and physician at Tennenbaum and Anstadt in Melrose Park, Illinois, Dr. Brad Anstadt builds on more than 30 years of practice experience. Dr. Brad Anstadt pursues a particular interest in glaucoma care.

In June 2016, scientists at Northwestern University's Feinberg School of Medicine and the University of Wisconsin-Madison announced the identification of the gene TEK as a contributing cause of childhood glaucoma. TEK plays a key role in the development of the Schlemm's canal, a vessel that drains fluid from the front of the eye. If this gene is missing or malfunctioning, pressure can build up and damage the optic nerve, thus causing a loss of vision.

Study leader Dr. Susan Quaggin had previously found a link between the deletion of the TEK gene and the development of glaucoma in mouse models. After publication of her findings, she met with pediatric ophthalmologist Dr. Terri Young, who had found mutations of the same gene in certain patients with primary congenital glaucoma, which is responsible for numerous cases of pediatric blindness worldwide.

Ultimately, Dr. Quaggin's research team found mutations of the TEK gene in 10 families, each of which included a patient with primary congenital glaucoma. None of the affected children had other gene mutations linked to glaucoma. The researchers then identified the pathway by which the TEK mutation interferes with the signaling that is key to proper formation of the Schlemm's canal.

The team is using its findings to develop an eye drop that would fix the disordered pathway. Meanwhile, they are also investigating whether there is a connection between TEK mutation and the development of glaucoma in adults.

Causes and Types of Cataracts

Ophthalmologist Dr. Brad Anstadt has cared for patients at Tennenbaum and Anstadt, Ltd., since 1985. Dr. Brad Anstadt builds on extensive experience in treating all of the different types of cataracts.

Behind the pupil and iris of the human eye, an intricate arrangement of proteins and water form a structure known as the lens. The lens enables the clear passage of light into the eye and, in turn, allows a person to see clearly. Over time, however, the proteins in the lens shift out of their normal position and collect in the center of the eye, thus interfering with vision.

Cataracts are most often a disease of older age. More than half of adults 65 years of age and older in the United States have cataracts, and statistics show that the total number of patients with the condition is increasing as the general population shifts to an older demographic.

It is possible, however, for younger adults and even children to develop cataracts. Prenatal injury, infection, or developmental abnormalities may lead to cataracts that are present at birth, while similar factors can lead to the onset of the condition in childhood.

Patients of any age may be susceptible to cataracts if they sustain an injury to the eye or develop certain medical conditions, such as diabetes. Those who undergo medical treatment with radiation, corticosteroids, or diuretics are at an increased risk of secondary cataracts, as are those who smoke, drink heavily, or are exposed to high levels of air pollution.