North Carolina macular dystrophy

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]

North Carolina macular dystrophy
Other namesDominant Progressive Foveal Dystrophy of Lefler, Wadsworth and Sidbury[1]
This disorder is inherited in an autosomal dominant fashion.
Symptomscentral vision loss and congenital and non-progressive ocular abnormalities
ComplicationsBlindness
Usual onsetBirth
DurationLife-long
CausesGenetic mutation
Risk factorsHaving at least one parent with the disorder
FrequencyRare

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]

References

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  1. ^ "North Carolina Macular Dystrophy".
  2. ^ "Orphanet: Distrofia macular de Carolina del Norte".
  3. ^ Michaelides, M.; Hunt, D. M.; Moore, A. T. (2003). "The genetics of inherited macular dystrophies". Journal of Medical Genetics. 40 (9): 641–650. doi:10.1136/jmg.40.9.641. PMC 1735576. PMID 12960208.
  4. ^ "North Carolina macular dystrophy - About the Disease - Genetic and Rare Diseases Information Center".
  5. ^ "Macular Dystrophy, North Carolina | Hereditary Ocular Diseases".