Scott MacIntyre, American Idol’s first sight-impaired contestant was eliminated this week. In an interview on Access Hollywood last night, Scott mentioned that his sister Katelyn (who is also sight-impaired), is to undergo a kidney transplant next week. Scott had also had a kidney transplant in 2007 (see our entries on organ donation). As a physician, I naturally became curious about which disorder would give a man and his sister both blindness and kidney failure. After a bit of searching I found out that Scott (and presumably Katelyn) have a rare genetic disorder called Leber’s Congenital Amaurosis.
Congenital Leber’s Amaurosis (LCA) is an inherited condition which affects both the light sensing cells in the retina causing blindness in children as young as two to three months of age. It is inherited as an autosomal recessive trait, meaning that both parents are carriers (they are unaffected but able to pass the trait) and their children have a one in four chance of being affected. It is a rare disease, with only 3 cases per 100,000 births. Symptoms in infants may include nystagmus (jiggling of the eyes) and frequent poking of their fingers in their eyes. Although mostly an eye disorder, neurologic, skeletal, muscular, heart, ear, and kidney abnormalities have been reported in association with LCA. There is currently no treatment for LCA, but research is ongoing. A number of gene mutations have been linked to the disease.
Scott is a very talented young man:
For more information about Scott MacIntyre
For more information about Leber’s Congenital Amaurosis