Story by Patricia Anstett, medical writer for the Detroit Free Press.
Submitted by June Pelo.
For 14 years, Dr. Jayne Weiss has tried to find out why Swede-Finns have a high rate of a rare eye disease.
Her maiden name was Johnson. She was of Swede-Finn descent. And she had an eye disease, Schnyder’s Dystrophy, that causes clouding of the cornea, the curved front of the eye. Dr. Jayne Weiss did not think much about the woman’s name or ethnicity until she saw another patient a year later in 1988. She also had Schnyder’s Dystrophy. She, too, was Swede-Finn. And her name was Johnson.
Six months later, a young doctor called Weiss to consult about a patient he had examined for Schnyder’s Dystrophy. Weiss immediately asked the patient: Is your last name Johnson and are you Swede-Finn? “How did you know?” Weiss says the patient asked in amazement. “Because you have Schnyder’s Dystrophy,” she recalls responding. Jayne Weiss knew she was onto something.
For 14 years, she has pieced together a still unraveling story that is turning out to have implications far beyond the small cluster of Swede-Finns who, for reasons unknown, have higher rates of Schnyder’s Dystrophy. Weiss believes Swede-Finns – Finnish people who are descendants of the Swedish aristocracy that ruled Finland from the 1300s to 1809 – have higher rates of the condition, just as members of other ethnic groups are more prone to certain genetic diseases. “Time will tell if my hunch is right,” she says.
Because of the small number of people with Schnyder’s, no one, including Weiss, has studied the frequency of Schnyder’s in other groups. Weiss and Dr. Howard Kruth, a cholesterol specialist at the National Institutes of Health, are looking at similarities between Schnyder’s Dystrophy and atherosclerosis, one of the most common causes of heart disease in the United States. Both are caused by a buildup of fatty substances called lipids. In Schnyder’s, a cluster of eye diseases named after the Swiss ophthalmologist who first reported the condition in the 1920s, deposits accumulate in the cornea, causing gradual vision loss and eventual legal blindness.
The condition can be corrected with a corneal transplant. Eye color has no bearing on who gets the disease, though people who develop severe forms of it often have a blue-like tinge to their eye. In atherosclerosis, lipids and cholesterol accumulate inside the walls of arteries, eventually blocking them and causing heart attacks. “Maybe the cornea can be a model to help us understand high cholesterol,” Weiss muses as she sits in her office at the Kresge Eye Institute in Detroit, where she is professor of ophthalmology and pathology at the Wayne State University School of Medicine and the Detroit Medical Center.
Weiss recently received a $770,000 grant from the National Institutes of Health to find the gene for Schnyder’s Dystrophy. The 3-year grant will allow her to continue work she did with a Massachusetts Institute of Technology team that identified chromosome 1 as the region where the gene for Schnyder’s resides. Weiss’ NIH grant allows her and collaborators Gerard Tromp, PhD, and Dr. Helena Kuivaniemi, a husband-wife WSU molecular biology team, to pay for blood tests and do state-of-the art genetic mapping. The blood samples will be used to obtain samples of DNA so the team can determine the gene’s precise location.
Weiss hopes to recruit at least 100 people for the study. She’s starting by trying to reach as many Swede-Finns as she can and by calling ophthalmologists in towns – like Michigan’s Houghton – that have large Scandinavian populations. Later this summer, she’ll place an ad in Houghton’s Daily Mining Gazette looking for patients. “Any place with Swede-Finns, we’re going after them,” Weiss says. She plans a visit to Oulu, Finland, in August to examine more families.
MEETING THE JOHNSONS
This time, she won’t ask to meet Johnsons. There were none among the Swede-Finns she interviewed on a 1990 trip to Finland. She learned that Johnson was a name recorded on passports when immigration officials stumbled with longer Scandinavian names. Members of other ethnic groups had similar experiences with their last names. Asked who they were, many Swede-Finns gave their father’s first name, Weiss says. “They’d say, ‘I’m John’s son,’” says Weiss, a busy working mom with no time to research her own Jewish ancestry. “I know more about Swede-Finns than I do my own family,” she says. In the United States, the name Johnson opens doors. Some of her first patients were Johnsons she found in the Worcester, Mass. phone book. At the time, Weiss was chief of the corneal eye service at the University of Massachusetts Medical Center in Worcester, a onetime mining town with a large Swedish population. She says she wrote every Johnson in the Worcester phone book to get recruits for her study. Those letters and others Weiss sent to Worcester ophthalmologists asking if they had seen patients with Schnyder’s, resulted in dozens of leads. Weiss now has files on 200 to 300 people – both Schnyder’s patients and their family members. That’s more than anyone else in the world. “There are only 100 reported in the medical literature,” Weiss says. Her patients live in Pennsylvania, Michigan, Ohio, Oklahoma, Iowa, Indiana, Connecticut, Florida, New York, Massachusetts, Japan and Finland. One is Janice Moore, 60, who lives in Sutton, Mass.
A FAMILY MATTER
Moore and a daughter have Schnyder’s Dystrophy. So did her late mother, a Swede born in Finland. “It was the beginning of a wonderful relationship,” says Moore, whose doctor referred her to Weiss in the late ‘80s. “We’re delighted for her commitment to research this and get a solution. This may seem like a little thing, but it isn’t if you are going blind.” Moore gave Weiss the name of her aunt when Weiss went to Finland in 1990. “Dr. Weiss went to her house and there was a note on the door that said, “Come in, have a cup of coffee. I’ll be back soon,” Moore says.
Gail Stearns, 59, an Auburn, Mass. tax collector, also was referred to Weiss by her doctor in 1989. She, too, is a Swede-Finn. Both she and her mother, Linnea Peterson, 90, have had corneal transplants because of failing eyesight from Schnyder’s. “That lady saved my vision,” Stearns says of Weiss. She had developed ulcers on her cornea and had to be hospitalized for a week. “She made sure I got the best care.” Lipid deposits have begun to collect again since her last corneal transplant surgery in 1991, but Stearns says she hopes doctors find a cure before she needs another transplant. She has a daughter, a grandchild and an uncle with Schnyder’s.
Weiss’ other commitment is to rewrite medical textbook chapters so doctors will better understand the disease. She is at work on a chapter on corneal eye disease for an ophthalmology textbook. “Much of what has been written is wrong,” she says. A common misconception is that Schnyder’s patients all develop crystal-like obstructions in the eye. Only half do, she says. “That’s terribly important for ophthalmologists to know because it helps them accurately diagnose the problem.” Weiss also hopes to someday develop a drug, possibly delivered by eyedrops, that would work to prevent Schnyder’s Dystrophy. It also might be used for future drug development to avoid cholesterol build-ups in arteries and prevent atherosclerosis. “We’re talking a ‘Star Wars’ type of possibility, but maybe we’ll get there someday,” she says. “Each of these are small steps to ultimately try to find a cure. We want to know how the gene goes wrong, and perhaps find some abnormal protein that isn’t working right. “We have a long way to go, but the neat part for me has been seeing how parts of the mystery story piece together. “Clearly, I have Schnyder’s on my brain. Before I die, I want an answer to Schnyder’s.”