North Carolina macular dystrophy | |
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Other names | Dominant Progressive Foveal Dystrophy of Lefler, Wadsworth and Sidbury [1] |
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This disorder is inherited in an autosomal dominant fashion. | |
Symptoms | central vision loss and congenital and non-progressive ocular abnormalities |
Complications | Blindness |
Usual onset | Birth |
Duration | Life-long |
Causes | Genetic mutation |
Risk factors | Having at least one parent with the disorder |
Frequency | Rare |
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]