Defective gene inspires optometrist to help loved ones

Dr. Sarah Koehnemann helps family fight retinitis pigmentosa

ORLANDO, Fla. – Dr. Sarah Koehnemann, a Central Florida optometrist with a family history of eye disease, chose her career path because the people she has loved her entire life inherited the same genetic flaw.

“My entire family has an eye disease called retinitus pigmentosa," Kohnemann said. "I grew up in a visually impaired family.”

Dr. Sarah, as her patients call her, as the only family member not to inherit or carry the defective gene, joined the Aker Eye office in Titusville, the office where she completed her high school internship in 2002.

“I knew in high school that this was my career path," she said. "I specialize in low vision because it’s a large part of our community that is underserved.”

RP is considered the most common inherited retinal disease, according to Koehnemann, an estimated 1 in 4 people are diagnosed with it.

Koehnemann’s grandmother, Dorothy Boyd, a former elementary school teacher, was first diagnosed with the disease when she was 5 years old. Today, at age 84, Boyd sees shadows and fragments of letters.

“I specialize in low vision because it’s so important to not only address the healthy with healthy eyes, but even the people that are visually impaired,” Koehnemann said.

The defective gene is on her mother’s side of the family. It can be traced to her  great-grandmother, grandmother, mother, aunt, siblings and both of her cousins.

Most of her family still has relatively good vision, but eventually, they will be nearly blind.

“They’ve been told their vision is poor and there’s nothing else that can be done from a functional standpoint,” Koehemann said.

Her search for a visual technology option for her family led Koehnemann to a Facebook video post by an Israeli company called Orcam.

The device, first featured on News 6 several weeks ago, has proven to be the perfect match for her grandmother’s impairment.

“The fact that she can hold her finger up and it can read a menu or recognize someone’s face without her having to rely on someone else  to read to her is perfect,” she said.

To be clear, the device uses a camera to read and recognize images. It does not enhance your vision. Think of it as a mini Alexa with a camera that clips to glasses.

"Some people are usually quite skeptical in the beginning," she said. "My grandmother is quite visually impaired. She needs something that reads for her that doesn’t rely on her limited vision.”

Koehnemann said her grandmother has trained other people how to use the device.

"She is very instructional," Koehnemann said. "It’s really kind of given her a new sense of purpose."

The entire family participates in the Orlando VisionWalk, along with the office staff.

VisionWalk is the “signature fundraiser” for the Foundation Fighting Blindness, the largest nonprofit company that provides funding for retinal research. This year, the Orlando VisionWalk will be held on May 19 at 10 a.m. at Blue Jacket Park.  

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