Mutations Lead to Retinitis Pigmentosa

The two families had been afflicted with retinitis pigmentosa for four generations. Results were published in the October 2003 issue of the American Journal of Ophthalmology.

Two novel mutations were identified in the two families; a Glu 414 (2-bp del) frameshift mutation in the first family and an IVS 2–1 (g to a) splice site mutation in the second. These mutations resulted in variable, severe forms of the disease and in some cases other neurologic disorders, such as hearing loss.

"Our findings show that different gene mutations result in different symptoms of the disease,” explained senior author Dr. Guy Rouleau, a geneticist at McGill University. "Our study will provide hope to those families who have suffered from this disease for generations and will lead to new screening and diagnostic tests.”




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