Colette and Denis Laroque had no idea that an uncle’s near-blindness on her side of the family, and mild eye issues on his side of the family, could ever manifest as a potentially serious eye disease in their young daughter, Elianne.
“When she was very little, we knew that she was cross-eyed,” says Colette of Elianne, now nine years old. “But then the doctor checked her and found scarring in the eyes, and said she had only 50 per cent vision.”
Initially, physicians in New Brunswick were concerned that Elianne might have retinoblastoma, a childhood cancer of the eyes. They referred her urgently to Dr. Johane Robitaille, an eye specialist at the IWK Health Centre and professor of ophthalmology at Dalhousie Medical School in Halifax.
Dr. Robitaille is a world-leading expert in hereditary eye diseases, who has been studying the genes of families all around the world affected by a disease known as FEVR—familial exudative vitreoretinopathy—for more than 20 years. FEVR leads to abnormal blood vessel development in the eyes, which can lead to nearly complete blindness.
Thanks to her in-depth genetic research, Dr. Robitaille knew that a mutation in a gene known as KIF11—one of the genetic mutations that leads to FEVR—is also involved in another rare genetic disease. This disease is microcephaly lymphedema chorioretinal dysplasia. This inherited disease can be carried by a parent with virtually no symptoms at all, but it can also manifest as very serious disease.
“Some people with this disease may have a smaller head, learning disabilities, and severe vision loss,” notes Dr. Robitaille. “Fortunately, Elianne is doing extremely well—she wears glasses to correct her vision and does very well in school.”
Elianne did have an operation when she was eight, to correct her inherited strabismus, which is a completely separate issues involving weakness of the muscles around the eyes, aggravated by her other vision problems. She now has 75 per cent vision.
“Her favourite things are reading, drawing, making crafts, and playing with her friends,” says Colette, who is so grateful for the interventions that have allowed her daughter to see well enough to enjoy these activities.
The Laroques are happy to support Dalhousie Medical Research Foundation’s 2018-19 Molly Appeal, which will support cell-analysis equipment and a genome informatics training program that will help Dr. Robitaille advance her research.
“We have gathered massive amounts of genetic information about families with these rare inherited diseases affecting the eye and the informatics program will help us analyze and make sense of the data,” Dr. Robitaille says. “We use the results of these analyses to create models of eye disease in zebrafish for instance, and to identify and test potential therapies for treating the symptoms of these diseases.”
This means that, as Elianne gets older and her eyes change, there will be more options to retain and possibly even improve her vision over time.