For patients with macular degeneration, new hope for restored sight
For millions of people with macular degeneration, treatment options are slim. The disease causes loss of central vision, which allows us to see straight ahead, and is highly dependent on age, with people over 75 at approximately 30% risk of developing the disorder. The BrightFocus Foundation estimates 11 million people in the U.S. currently have one of three forms of the disease.
Recently, ophthalmologists including Daniel Palanker at Stanford University published research showing advances in the PRIMA retinal implant, which could help people with advanced, age-related macular degeneration regain some of their sight. In a feasibility study, five patients had a pixelated chip implanted behind the retina, and three were able to see using their remaining peripheral vision and—thanks to the implant—their partially restored central vision at the same time.
Should people with macular degeneration be excited about these results?
“Every week, if not every day, patients come to me with this question because it's devastating when they lose their central vision,” says retinal surgeon Lynn Huang. About 40% of her patients have macular degeneration. Huang tells them that these implants, along with new medications and stem cell therapies, could be useful in the coming years.
“The goal here is to replace the missing photoreceptors with photovoltaic pixels, basically like little solar panels,” Palanker says.
That implant, a pixelated chip, works together with a tiny video camera on a specially designed pair of eyeglasses, which can be adjusted for each patient’s prescription. The video camera relays processed images to the chip, which electrically stimulates inner retinal neurons. These neurons, in turn, relay information to the brain’s visual cortex through the optic nerve. The chip restores patients’ central sight, but not completely. The artificial vision is basically monochromatic (whitish-yellowish) and fairly blurry; patients were still legally blind even after the implant, except when using a zoom function on the camera, but those with proper chip placement could make out large letters.
“The goal here is to replace the missing photoreceptors with photovoltaic pixels, basically like little solar panels,” Palanker says. These pixels, located on the implanted chip, convert light into pulsed electrical currents that stimulate retinal neurons. In time, Palanker hopes to improve the chips, resulting in bigger boosts to visual acuity.
The pixelated chips are surgically implanted during a process Palanker admits is still “a surgical learning curve.” In the study, three chips were implanted correctly, one was placed incorrectly, and another patient’s chip moved after the procedure; he did not follow post-surgical recommendations. One patient passed away during the study for unrelated reasons.
University of Maryland retinal specialist Kenneth Taubenslag, who was not involved in the study, said that subretinal surgeries have become less common in recent years, but expects implants to spur improvements in these techniques. “I think as people get more experience, [they’ll] probably get more reliable placement of the implant,” he said, pointing out that even the patient with the misplaced chip was able to gain some light perception, if not the same visual acuity as other patients.
Retinal implants have come under scrutiny lately. IEEE Spectrum reported that Second Sight, manufacturer of the Argus II implant used for people with retinitis pigmentosa, a genetic disease that causes vision loss, would no longer support the product. After selling hundreds of the implants at $150,000 apiece, company leaders announced they’d “decided to pursue an orderly wind down” of Second Sight in March 2020 in the wake of financial issues. Last month, the company announced a merger, shifting its focus to a new retinal implant, raising questions for patients who have Argus II implants.
Retinal surgeon Eugene de Juan of the University of California, San Francisco, was involved with early studies of the Argus implants, though his participation ended over a decade ago, before the device was marketed by Second Sight. He says he would consider recommending future implants to patients with macular degeneration, given the promise of the technology and the lack of other alternatives.
“I tell my patients that this is an area of active research and development, and it's getting better and better, so let's not give up hope,” de Juan says. He believes cautious optimism for Palanker’s implant is appropriate: “It's not the first, it's not the only, but it's a good approach with a good team.”
When doctors couldn’t stop her daughter’s seizures, this mom earned a PhD and found a treatment herself.
Twenty-eight years ago, Tracy Dixon-Salazaar woke to the sound of her daughter, two-year-old Savannah, in the midst of a medical emergency.
“I entered [Savannah’s room] to see her tiny little body jerking about violently in her bed,” Tracy said in an interview. “I thought she was choking.” When she and her husband frantically called 911, the paramedic told them it was likely that Savannah had had a seizure—a term neither Tracy nor her husband had ever heard before.
Over the next several years, Savannah’s seizures continued and worsened. By age five Savannah was having seizures dozens of times each day, and her parents noticed significant developmental delays. Savannah was unable to use the restroom and functioned more like a toddler than a five-year-old.
Doctors were mystified: Tracy and her husband had no family history of seizures, and there was no event—such as an injury or infection—that could have caused them. Doctors were also confused as to why Savannah’s seizures were happening so frequently despite trying different seizure medications.
Doctors eventually diagnosed Savannah with Lennox-Gaustaut Syndrome, or LGS, an epilepsy disorder with no cure and a poor prognosis. People with LGS are often resistant to several kinds of anti-seizure medications, and often suffer from developmental delays and behavioral problems. People with LGS also have a higher chance of injury as well as a higher chance of sudden unexpected death (SUDEP) due to the frequent seizures. In about 70 percent of cases, LGS has an identifiable cause such as a brain injury or genetic syndrome. In about 30 percent of cases, however, the cause is unknown.
Watching her daughter struggle through repeated seizures was devastating to Tracy and the rest of the family.
“This disease, it comes into your life. It’s uninvited. It’s unannounced and it takes over every aspect of your daily life,” said Tracy in an interview with Today.com. “Plus it’s attacking the thing that is most precious to you—your kid.”
Desperate to find some answers, Tracy began combing the medical literature for information about epilepsy and LGS. She enrolled in college courses to better understand the papers she was reading.
“Ironically, I thought I needed to go to college to take English classes to understand these papers—but soon learned it wasn’t English classes I needed, It was science,” Tracy said. When she took her first college science course, Tracy says, she “fell in love with the subject.”
Tracy was now a caregiver to Savannah, who continued to have hundreds of seizures a month, as well as a full-time student, studying late into the night and while her kids were at school, using classwork as “an outlet for the pain.”
“I couldn’t help my daughter,” Tracy said. “Studying was something I could do.”
Twelve years later, Tracy had earned a PhD in neurobiology.
After her post-doctoral training, Tracy started working at a lab that explored the genetics of epilepsy. Savannah’s doctors hadn’t found a genetic cause for her seizures, so Tracy decided to sequence her genome again to check for other abnormalities—and what she found was life-changing.
Tracy discovered that Savannah had a calcium channel mutation, meaning that too much calcium was passing through Savannah’s neural pathways, leading to seizures. The information made sense to Tracy: Anti-seizure medications often leech calcium from a person’s bones. When doctors had prescribed Savannah calcium supplements in the past to counteract these effects, her seizures had gotten worse every time she took the medication. Tracy took her discovery to Savannah’s doctor, who agreed to prescribe her a calcium blocker.
The change in Savannah was almost immediate.
Within two weeks, Savannah’s seizures had decreased by 95 percent. Once on a daily seven-drug regimen, she was soon weaned to just four, and then three. Amazingly, Tracy started to notice changes in Savannah’s personality and development, too.
“She just exploded in her personality and her talking and her walking and her potty training and oh my gosh she is just so sassy,” Tracy said in an interview.
Since starting the calcium blocker eleven years ago, Savannah has continued to make enormous strides. Though still unable to read or write, Savannah enjoys puzzles and social media. She’s “obsessed” with boys, says Tracy. And while Tracy suspects she’ll never be able to live independently, she and her daughter can now share more “normal” moments—something she never anticipated at the start of Savannah’s journey with LGS. While preparing for an event, Savannah helped Tracy get ready.
“We picked out a dress and it was the first time in our lives that we did something normal as a mother and a daughter,” she said. “It was pretty cool.”
A sleek, four-foot tall white robot glides across a cafe storefront in Tokyo’s Nihonbashi district, holding a two-tiered serving tray full of tea sandwiches and pastries. The cafe’s patrons smile and say thanks as they take the tray—but it’s not the robot they’re thanking. Instead, the patrons are talking to the person controlling the robot—a restaurant employee who operates the avatar from the comfort of their home.
It’s a typical scene at DAWN, short for Diverse Avatar Working Network—a cafe that launched in Tokyo six years ago as an experimental pop-up and quickly became an overnight success. Today, the cafe is a permanent fixture in Nihonbashi, staffing roughly 60 remote workers who control the robots remotely and communicate to customers via a built-in microphone.
More than just a creative idea, however, DAWN is being hailed as a life-changing opportunity. The workers who control the robots remotely (known as “pilots”) all have disabilities that limit their ability to move around freely and travel outside their homes. Worldwide, an estimated 16 percent of the global population lives with a significant disability—and according to the World Health Organization, these disabilities give rise to other problems, such as exclusion from education, unemployment, and poverty.
These are all problems that Kentaro Yoshifuji, founder and CEO of Ory Laboratory, which supplies the robot servers at DAWN, is looking to correct. Yoshifuji, who was bedridden for several years in high school due to an undisclosed health problem, launched the company to help enable people who are house-bound or bedridden to more fully participate in society, as well as end the loneliness, isolation, and feelings of worthlessness that can sometimes go hand-in-hand with being disabled.
“It’s heartbreaking to think that [people with disabilities] feel they are a burden to society, or that they fear their families suffer by caring for them,” said Yoshifuji in an interview in 2020. “We are dedicating ourselves to providing workable, technology-based solutions. That is our purpose.”
Shota Kuwahara, a DAWN employee with muscular dystrophy. Ory Labs, Inc.
Wanting to connect with others and feel useful is a common sentiment that’s shared by the workers at DAWN. Marianne, a mother of two who lives near Mt. Fuji, Japan, is functionally disabled due to chronic pain and fatigue. Working at DAWN has allowed Marianne to provide for her family as well as help alleviate her loneliness and grief.Shota, Kuwahara, a DAWN employee with muscular dystrophy, agrees. "There are many difficulties in my daily life, but I believe my life has a purpose and is not being wasted," he says. "Being useful, able to help other people, even feeling needed by others, is so motivational."