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A westerner at heart, Dr. Pearce declined opportunities at more established medical schools to come to Edmonton in the early '70s and develop the Ocular Genetics Clinic. As he built up his practice in Alberta, he began tracking the incidence of rare eye disorders in families.
Twenty-five years ago, before the revolution in genetic technology, Dr. Pearce had to rely on blood group markers to trace genetic linkages in families, a method that worked for only some diseases. With the advent of modern molecular genetics, he was able to hone in on more specific genetic causes of certain eye conditions, with a particular focus on congenital stationary night blindness, a retinal disorder present at birth in varying degrees of severity but that doesn't progressively worsen.
Dr. Pearce has collaborated for more than a decade with U of C geneticist Dr. Torben Beck-Hansen, to map a gene for this uncommon, but not rare, disease. Their studies of the genetic area involved in congenital stationary night blindness have led to the identification of one form of the condition occurring in significant numbers in families of Mennonite origins. Eventually, Dr. Pearce and Dr. Beck-Hansen were able to link numerous individual families into one family, related through previous generations to a founding member with the condition.
A self-described "scientifically oriented clinical researcher", rather than a lab scientist, Dr. Pearce's contact with patients from all over Alberta led to a database of more than 1500 people with rare eye diseases. His work as a pediatric ophthalmologist was key because, as he says, "You accumulate genetic conditions that appear, first of all, in youngsters. So it is from pediatric ophthalmology that I've been able to identify children and their family members who have a genetic disease and get their stories."
Assembled at first with pen and paper, and later with computer, it is this research resource that helped bring AHFMR researcher Dr. Mike Walter and colleague Dr. Ian MacDonald also a significant contributor to the database -to the U of A. With Dr. Pearce's imminent retirement, it is Dr. MacDonald who will continue the database management and growth.
Dr. Bill Pearce is a U of A ophthalmologist with a special interest in genetic eye disorders, to whom other ophthalmologists in Alberta refer certain patients. People with unusual visual symptoms and findings can often be shown, by special tests of visual function, to have a genetic eye condition.
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Genetics at Work in Sight Test | Links for Sight | Getting to the Heart of Nursing
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