Infantile cataracts are a blind spot

UCSD has issued the following press release: 

Three days after Canyon Brown was born, the attending pediatrician discovered a problem.

During a standard red reflex test, in which a red dot of light is shined from an ophthalmoscope into the pupil, the boy’s right eye, unlike his left, reflected no light back.

People can be born with cataracts. They can form them at any point in life. The clouding of the lens is not just an artifact of advancing age. According to the American Academy of Ophthalmology, the incidence of infantile cataracts is 3 to 4 per 10,000 live births per year. They account for 5 to 20 percent of childhood blindness worldwide.

An even lesser known fact is that cataracts are much more serious in an infant than in an adult.

“People always think, ‘Oh my grandpa had his cataracts removed and it was in and out of surgery in 20 minutes and he never saw a surgeon again, no big deal,’ but with kids, it’s the opposite,” said Jolene Rudell, MD, PhD, pediatric ophthalmologist at Shiley Eye Institute at UC San Diego Health.

Rudell removed Canyon’s clouded lens at 6 weeks old. This was considered an emergency surgery for several reasons, each of which distinguishes infantile cataracts from the adult kind.

“One of the things we always worry about is cancer,” said Rudell, explaining that retinoblastoma can sometimes look like a congenital cataract but, if discovered, could require “radiation, chemotherapy and possibly even removing the eye” to treat.

“That was terrifying to us,” said Rochelle Gaudette, Canyon’s mother. “We have a newborn that could possibly have this life-threatening disease?”

In Canyon’s case, no tumor was detected. His cataract was due to an unexplained underdevelopment of the eye in utero. (If Canyon had developed cataracts in both eyes that might have been a sign of a more serious problem, such as an infection or genetic syndrome that can affect a child’s development and health.)

No matter their cause, treating cataracts is also much more urgent for infants than adults because the brain starts shutting off vision from an underperforming eye immediately after birth. That’s why, like most people who develop cataracts in infancy, Canyon also has amblyopia (more commonly called lazy eye).

“There is a very small window of time when we can operate, which is four to six weeks, to have a chance at saving any vision in the eye,” said Rudell, who regularly performs these operations, “because, from day one, the brain favors the eye without the cataract.”

Finally, treating cataracts is much more complicated in infants because clouded lenses cannot immediately be replaced with artificial ones. Eyes keep growing, and changing shape, according to Rudell. So Canyon must wear a contact lens, or very thick glasses, to have any focusing power in his problem eye until he is a little older, when his parents have the option of getting him an intraocular transplant or continuing with the contact lens indefinitely.

“When he wakes up, you have to clean the contact lens and then try to pry his eyeball open and pop it in without him swatting your hand away or screaming or squirming,” Gaudette said. “And the glasses don’t work because he won’t wear his glasses anymore. He pulls them off.”

Because of his amblyopia, Canyon must also wear a patch over his unaffected eye for three to six hours per day to strengthen his problem eye.

“It really changed the routine of our whole family,” Gaudette said, “and every step of the way, there’s things that come up.”

Rudell calls correcting infant cataracts “a lifelong process.”

“At any moment after surgery, from days to decades later, there are many potential problems that can arise, and likely additional surgeries to correct them,” she said. “Even if their surgeries go perfectly and the right things are done at the right time, kids born with underdeveloped eyes are more at risk for glaucoma and other forms of blindness. Some of them may end up losing their vision anyway.”

And the expense of this treatment can break the average family’s bank. Canyon’s lensectomy alone cost $35,000 as billed to his insurance, which denied the claim. Fortunately, a “cash pay” arrangement for Gaudette and her husband cost only $8,200, which was footed in its entirety by generous friends and family through a GoFundMe campaign.

Many families end up deciding it’s not worth all the trouble just to save the vision in one eye, according to Rudell.

Jolene Rudell, MD, PhD, is a pediatric ophthalmologist at Shiley Eye Institute at UC San Diego Health.

“It can be a difficult decision to put a six-week-old child under anesthesia for something that won’t kill them,” Rudell said. “After all, you can still legally drive with only one eye, and Canyon will still be able to do thing other kids can do.”

The problem, Rudell said, is if something ever happens to the unaffected eye.

“When a child grows up and they develop macular degeneration that happens to get worse in their good eye, they essentially become blind,” she said. “That’s why we always try to maximize whatever vision we’re able to, when we can.”

Rudell says more research is needed in the field of congenital cataracts.

“We have options to treat patients like Canyon, but we still don’t have great solutions, and so many questions still remain on what is the best way to manage congenital cataracts,” she said. “It is unfortunately not well-studied. But I’m hoping more research can only help improve visual outcomes for children with eye diseases, including cataracts.”

For now, Canyon is healthy and developing normally at 18 months old, which is what his parents focus on.

“He interacts well with others and his language is developing nicely,” Gaudette said. “I almost think that he might be ahead of the curve in some ways.” She paused and added “It’s not like this is a walk in the park, but just the fact that you can treat it makes us just want to go for it and hope for the best.”

Original story source: UCSD News