Spotlight Iowa City: Professor leads probe into rare eye disease

BY SETH ROBERTS | MARCH 10, 2010 7:30 AM

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Vinit Mahajan has one very ambitious aspiration.

“My mentors have invested their efforts into training me for one goal,” said the University of Iowa Hospitals and Clinics doctor. “Cure the blind.”

Mahajan is an assistant professor of vitreoretinal surgery and diseases who has been researching, teaching, and performing eye surgeries at the UI for almost four years. The 40-year-old comes to Iowa City after his residency at the Jules Stein Eye Institute at the University of California-Los Angeles, an internationally recognized center working to prevent blindness.

His enthusiasm has rubbed off on his colleagues.

“He came from Los Angeles being extremely highly touted,” said James Folk, a UI professor of ophthalmology, who noted that hospital officials worked hard to bring Mahajan here. “He is young and energetic, and I feel as if that has re-energized and reinvigorated some of the older staff, including myself.”

Mahajan officially joined the faculty of the Carver Family Center for Macular Degeneration after completing a fellowship with the UI ophthalmology department. His background in biochemistry, in particular, gives him a novel perspective about the eye. He has the ability to help what is estimated to be more than 25 million Americans who “have trouble” seeing or are blind, according to findings from the 2008 National Health Interview Survey.

“He’s the whole package — an excellent clinician, surgeon, and researcher — and that’s really hard to get,” Folk said. “Doctors are usually one or the other, and it’s rare that someone fits all three criteria.”

Not surprisingly, then, Mahajan has made strides in understanding some forms of blindness. In 2008, he and a team of researchers — including ophthalmology Professor Stephen Russell and vitreoretinal Professor Edwin Stone — discovered a rare genetic eye disorder that occurs in degeneration of the macula, a region of the retina essential for sharp central vision.

It started with a young woman. She was experiencing bleeding and vision loss — something Mahajan said doctors couldn’t seem to find the root of the symptoms. Many of the woman’s family members had histories of eye problems.

This began what Mahajan and his colleagues call an “Iowa road trip.” The team loaded a van with personnel and equipment and drove six hours to examine 17 of the subject’s family members. The voyage showed at least seven members of the subject’s family, between the ages of 5 and 65, had similar symptoms. This suggested a genetic correlation to the condition.

Mahajan spearheaded the investigation.

“Mahajan was crucial in organizing doctors, nurses, and photographers,” Russell said. “He was responsible for a lot of detail.”

Mahajan’s findings were published in the November 2009 edition of Archives of Ophthalmology, and the team has since been searching for the gene responsible for the condition.

Russell said that search has now been narrowed to a specific chromosome. The doctors are working to find the part of the chromosome that causes the physical symptoms.

Macular degeneration can occur because of a variety of causes, ranging from age to diabetes. The genetic connection to this particular strain was something that the research team had not seen before, however. Mahajan said he is undaunted by the rarity of the condition, explaining that the technology available at the UIHC is making it easier to study diseases of all types.

“We have broken down the artificial barriers that exist among the patient clinic, operating room, and the basic science research lab,” Mahajan said.

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