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North Carolina macular dystrophy is an extremely rare autosomal dominant genetic disorder that primarily affects the eyes. It is a non-progressive disorder which is characterized by an abnormal development of the macula, multiple drusen, photoreceptor cells atrophy, and central vision loss.[2] This condition is caused by mutations in chromosome 6q16[3][4]

This disease was named after the U.S. state North Carolina due to the fact that the first people to be diagnosed with this disorder were members of a four-generation Irish-American family in North Carolina, since then, Latin American, European, and Asian families have been reported in medical literature to have this disorder as well.[5]

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