Doctor Peers Into the Eyeball In Life Quest for Sight Cure

By Dayna Drum | Reporter

Many people don’t consider the inner workings of their eyes, but for Dr. Kent W. Small it’s what has consumed him for decades.

The Ophthalmologist has recently discovered a gene mutation that leads to the development of a rare eye disease, North Carolina Macular Dystrophy known as MCDR1, and opens the possibility of treatment for the hereditary, genetic condition.

The monumental discovery comes from a Palisadian neighbor—the Small family lives in Brentwood, but the doctor’s children attended Calvary Christian School before transitioning to Oaks Christian School.

Small began studying the disease almost 30 years ago when he came in contact with a patient with it while training at Duke University. Those diagnosed with the disease experience a degeneration of the macula, the part of the eye that deals with fine details, impacting reading and driving among other activities.

The disorder was initially described in a family of Irish descent in North Carolina, and affected individuals have been identified in European, Asian and South American families as well.

Soon after discovering the initial patient, Small spent his nights and weekends with the proband, a medical term for the initial patient in a genetic study, and his family to studying each member for traces of the disease.

“It quickly evolved into a passion,” Small told the Palisadian-Post. 

In 1990, Small made his first big discovery about the disease and was able to map it genetically. In his initial findings he had a vague idea of how the condition progressed, but as of last year he has finally discovered the specifics of how the mutation happens.

“It was relief,” Small said, recounting the nights and shower sessions he spent thinking about his research.

Small has been in a race against several other groups studying the condition. He said his biggest fear was being beat to the finish line and reading about their discoveries in a scientific journal—but Small finished first and was publish earlier this year, putting the final touch on research decades in the making.

He is credited in the Opthamology journal with nearly 20 other researchers who combined their skills to find if not the cure then the beginning of a cure.

Over the years Small has worked with 35 families afflicted by MCDR1 from around the world, and he said, “it took an international effort to make this discovery.”

Because of Small’s discovery, potential inheritors of the disease can now be diagnosed even before birth. Types of treatment are also made possible through gene therapy and even some medication.

In an effort to further fund his research, ten years ago Small founded the Molecular Insight Research Foundation, a non-profit dedicated to eye research.