Steingrimur “Stoni” Sveinsson – Peters Plus

Steingrimur Sveinsson — Stoni, for short — was born on Dec. 6, 2017 in Reykjavik, Iceland. Because he hadn’t been getting enough nutrition in the womb, doctors performed a C-section around 27 weeks into his mom’s pregnancy.

Shortly after Stoni’s birth, “we saw that his eyes were different,” says his mom, Tinna Thorvaldsdottir.

Stoni's eyes appeared clouded over. It was the first clue that would lead to a diagnosis of a very rare genetic disorder. At two months old, doctors diagnosed Stoni with Peters Plus.

The U.S. National Library of Medicine says there are fewer than 80 reported cases of Peters Plus worldwide.

“He was the first case in Iceland,” says Tinna. “Many, many people examined him.”

Other signs of Peters Plus included a cleft palate and cleft lip. Stoni had surgery to repair his cleft palate in Reykjavik, with surgery for his cleft lip scheduled later, also in Iceland.

The cloudy or opaque cornea — the clear layer that forms the eye's surface — causes severely blurred vision that often worsens with time. Doctors told Tinna and Stoni’s dad, Sveinn Runarsson, there was nothing they could do.

No one Stoni's parents talked with felt at ease performing such complex operations on such a small baby.

At first, “the news that he would be blind was worse than the news of his diagnosis,” says Tinna. But, slowly the family began to accept it.

Things Start Looking Up for Stoni

Then Stoni’s future began to change. His pediatric ophthalmologist reached out to Ken Nischal, MD, at UPMC Children’s Hospital of Pittsburgh. Dr. Nischal is chief of the Division of Pediatric Ophthalmology, Strabismus, and Adult Motility.

Dr. Nischal agreed to look at Stoni in London, where he sees patients every three months. In June 2018, Stoni's family made the trip to London.

When Dr. Nischal met Stoni and his family, he knew that he could help.

With the Icelandic government's help, the family flew to Children's main campus in Pittsburgh, Pa., in August for a series of surgeries.

“We were really lucky to meet Dr. Nischal,” says Tinna. “When we met him, we just knew that he was perfect.”

The first surgery was on Stoni’s left eye. Dr. Nischal made what amounts to a new pupil, cutting out a piece of the cornea to allow light to come in.

The clouding in Stoni's right eye was more severe, so Dr. Nischal performed a corneal transplant. He replaced Stoni's opaque cornea with a clear one from a donor.

Along with the tiny size, doing a corneal transplant on a baby is quite complex for many reasons.

“You have to have the anesthesia just right. The tissue is different. There’s significant post-operative care involved,” Dr. Nischal says. “Children don’t just sit up and open their eyes. You have to be vigilant. One loose suture could cause his body to reject the whole graft.”

An Alert Little Boy with Viking Strength

While never a magic bullet that restores perfect vision, Stoni’s surgeries have all the markings of success.

“He's completely another child!” says Tinna. “He’s more alert, more confident. He plays with toys. He follows things with his eyes.”

“He’ll be able to see big letters,” says Sveinn, adding that “the left eye is the one he’ll go to school with.”

And Stoni looks to be well on his way. He has a follow-up visit scheduled with Dr. Nischal in London, and vigor of his own.

“He’s very strong,” Sveinn says of his son. “Never sick or anything. Viking strong!”