Solving Inherited Retinal Degeneration: From Shadow to Sunlight

“What can you see, Mommy?”

An activist for retinal research support, Lorie Hirson enjoys a Sunday at the park with sons Noah and Ari.

Noah Hirson wants to know how his mother’s eye disease makes the world look different. “It’s like looking through a tunnel this wide,” she explains, holding her hands about four inches apart. Although her visual field has narrowed dramatically, the faces of her family – sons Noah, 8, Ari, 5, and husband Ron – remain vivid and detailed, for now.

At age 43, Lorie Hirson has a rare inherited form of retinal degeneration called retinitis pigmentosa. As in macular degenerations and glaucoma, the retinal cells progressively die off, impairing the eye’s ability to send signals to the brain. Twelve clinical researchers and basic scientists in UC San Francisco’s Department of Ophthalmology investigate the retina, working to understand how its precious cells deteriorate and how to protect and even regenerate vision cells.

Focus on Finding Answers

No approved treatments or cures for retinitis pigmentosa yet exist, but innovative therapies that emerge from UCSF’s sustained laboratory investigation may brighten Lorie’s prognosis. The faculty combines the latest findings in genetics, neurobiology, and physiology with bio-engineering advances to develop truly novel solutions for patients who are waiting and hoping.

“Retinal degenerative diseases pose some of the greatest challenges in ophthalmology today,” says leading researcher Jacque L. Duncan, MD (and Lorie’s clinician). Dr. Duncan holds the Stephen G. Kramer, MD, PhD, Endowed Chair in Ophthalmology. These complex disorders call for many avenues of investigation. For example, more than 100 gene mutations can cause retinitis pigmentosa.

Retinal degenerative diseases
pose some of the greatest challenges
in ophthalmology today.” – Dr. Jacque Duncan

Over time, Lorie’s visual field is expected to shrink to a pinhole at best. Prosthetics, experimental ocular transplants, and innovative gene therapies all hold potential. The Argus II Retinal Prosthesis System (see sidebar) delivers some fundamentals of sight and might make sense for Lorie in the future. A number of clinical trials designed to slow vision loss or restore sight to patients like Lorie are under way. “Being able to keep any bit of sight would make a huge difference in my quality of life,” she says.

People with inherited retinal degenerations not only face progressive vision loss but the knowledge that family members are at risk. Lorie’s older brother also inherited the disease.

Ophthalmologists guard patients’ remaining sight while keeping them apprised of relevant research developments. Low vision consultants help them make the most of their vision through adaptive technologies. Most of all, those facing vision disabilities need support, empathy, and understanding from family, friends, and community, and a caring hand when help is needed.

Disabled, Not Helpless

“Night blindness came first, and I gave up driving completely in my 30s,” Lorie recalls. Her career in public relations is well suited to cities, and urban living has
helped her stay self-reliant. The Hirsons reside in San Francisco, where Lorie can walk Ari to school and stop along Clement Street for groceries. She takes the bus daily, whether traveling to her son Noah’s school, going to the gym, or visiting clients around the city. Reading continues to be a pleasure, and she benefits from high-contrast web content.

“I’m still so independent,” Lorie says, “but people in my inner circle help me, and I ask for assistance in places like airports.” Over the past three years, her white cane has become important for navigating on her own.

Swimming Toward Hope

Not one to take her condition sitting down, Lorie has chosen to use swimming to raise awareness and vital funds for vision research. She and her husband Ron are organizing the third annual Alcatraz Swim for Sight (see sidebar). Offering a mile and a half of open bay swimming, the event will be held in September, San Francisco’s warmest month. The couple also serves on the board of directors of That Man May See, support foundation for UCSF vision science.

For the Hirsons, the silver lining of Lorie’s disease is their sons’ emerging sensitivity to others. “The boys are alert to people whom they identify as ‘similar to mom,’” says Lorie. “They are learning to be sympathetic and open to people who seem different.”

Noah is growing old enough to think about possible solutions. He wants to know if doctors can fix Lorie’s eyes.
“Hopefully in the future” is her heartfelt response.

3rd Annual Alcatraz Swim for Sight — Join in!

Ron and Lorie Hirson

• Sunday, September 28, Aquatic Park, San Francisco
• Swim to raise funds for vision research. 
• Make a donation to That Man May See. 
• Goals: $100,000 and 100 swimmers

To make a tax-deductible gift, register as a swimmer, or learn more.