Perseverance Pays Off for Emmy-Winning Wilmer Surgeon John Gottsch

John Gottsch
Published in Dome - Dome March/April 2025

John Gottsch understands as well as anyone how things like disease, talent and memories pass from one generation to the next.

Gottsch, the Margaret C. Mosher Professor of Ophthalmology at the Wilmer Eye Institute, Johns Hopkins Medicine, has identified genetic variants that cause corneal eye diseases by doggedly tracking down the family members of his patients.

He's also a composer, whose symphonic poem, Ocklawaha: Tales My Father Told, won a regional Suncoast Emmy in December. It celebrates his father and the river they explored together, helping to preserve both for future generations.

The flow of history is important to Gottsch, a third-generation physician who grew up in Florida, near the Ocklawaha River. Gottsch vividly remembers boating on it with his father, John Erwin Gottsch, who taught him about the rich history of the river and region.

The childhood idyll ended when Gottsch was 9. His father died, leaving his mother, Rachel, alone to raise Gottsch and his three younger siblings.

Gottsch says his love of classical music comes from his mother, a musician herself who introduced him to piano and took him to orchestral concerts and operas. From his father, he inherited a trumpet and an aptitude for playing it.

Gottsch maintained his interest in music through his undergraduate days at Trinity College and as a medical student at the University of South Alabama. He continued playing and composing after he arrived at Johns Hopkins for a cornea and external disease fellowship in 1984, and during his storied career on the Wilmer faculty.

In 2002, Gottsch, who specializes in corneal diseases and transplants, identified a rare hereditary syndrome he named EDICT - an acronym for its unusual combination of symptoms: corneal endothelial dystrophy, iris hypoplasia, congenital cataracts and corneal stromal thinning.

The discovery, he says, began when a patient presented with decreased vision and a cluster of ocular anomalies: "a cloudy, thin cornea, a cataract and problems with the iris," says Gottsch.

To restore the patient's vision, Gottsch performed a corneal transplant and cataract surgery. Examination of the corneal tissue confirmed a novel corneal disease, he says, and it seemed clear that it was hereditary because the patient's three daughters, plus grandchildren, had the same clinical findings. He worked with a team of genetic experts to identify and report the gene mutation in 2012.

Gottsch, who had decades of RO1 funding as the principal investigator, also found the genetic basis for a number of families with Fuchs dystrophy, a common disease that requires corneal transplantation to restore vision.

The work involved tracking down all relatives, even ones with no signs of the disease. "Finding and examining that last family member might provide the critical key in discovering the causal genetic variant," he says.

"One family with Fuchs dystrophy was distributed up and down the West Coast, another family was scattered throughout the mountainous regions of West Virginia. If you're going to get the complete genetic story, you have to persevere and keep going to identify and study every family member possible."

And the work doesn't stop there. Gottsch, with colleagues Allen Eghrari, Jinchong Xu, Yuejia Huang and Michael Sulewski, are now studying ways to correct mutations found in these families by taking white blood cells from affected patients and creating pluripotent cells. Gene-editing tools can then create "normalized" corneal cells that could potentially be transplanted to restore vision, Gottsch explains.

"He has a combination of skill sets, including diagnostic ability, perseverance and surgical technical skills, that are almost unique in the world of corneal surgeons," says Morton Goldberg, director of the Wilmer Institute from 1989 to 2003 and now its Joseph Green Professor of Ophthalmology.

"With his colleagues, Dr. Gottsch is able to identify and prove that the precise mutation is on a specific chromosome, all while finding time to compose symphonies. How does he do it all?"

Twenty-five years ago, Gottsch replaced the corneas of Ernie Hudson, now 95, whose Fuchs dystrophy was impairing his ability to read, drive and continue working as president of a masonry company.

"I had my first eye done, and it went very well," says Hudson, of Virginia Beach, Virginia. "A year later, I had the other one done. I have been blessed with good vision since that long-ago day."

By studying Hudson and his family, Gottsch found the gene variant causal for the Fuchs dystrophy in his family.

Gottsch says perseverance is the connective tissue that links his scientific and artistic pursuits.

His office, decorated with his mother's paintings, contains a keyboard, allowing him to hone his musical compositions in rare breaks from his research and clinical work. It took two years, mostly on weekends, to write Ocklawaha, he says.

"It's not easy," he says. "I just had to stay with it."

When the Emmy-winning piece premiered in January 2023 at the New World Center in Miami, Steve Robitaille, president of Florida Defenders of the Environment (FDE) and an Emmy-winning documentary producer, heard it and thought it could be expanded into a documentary about the river and its history.

FDE advocates for restoration of the river, which was damaged by a dam built by the Army Corps of Engineers in 1968 to create a cross-Florida canal for barges. The canal was never finished, but the dam disrupted the river's flow, harming valuable ecosystems.

The half-hour film, broadcast by the University of Florida's PBS affiliate and available on the PBS and FDE websites, shows a boy swimming in a clean and vibrant river, boating with his father and learning about local history. Reminiscences, written by Gottsch, are narrated by actor Peter Coyote.

"Every turn in the river brought discovery," Coyote narrates at one point.

But the river's sparkle was gone when Gottsch returned from college and saw the changes wrought by the dam. "I sat there in a watery grave of dead trees, trying to make sense of it all," he says.

Yet Gottsch, a surgeon who restores vision, a researcher who solves genetic puzzles and a musician who re-creates memories, knows that healing is possible.

"In the end, I discovered that music could bring me closer to nature," his narrator says in the final moments of the film. "And nature could be celebrated in music. That art can transcend time. And a boy and a river can be reborn."