Medicine:North Carolina macular dystrophy
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North Carolina macular dystrophy | |
---|---|
Other names | Dominant Progressive Foveal Dystrophy of Lefler, Wadsworth and Sidbury[1] |
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]
References
- ↑ "North Carolina Macular Dystrophy". http://www.ssc.education.ed.ac.uk/resources/vi&multi/eyeconds/NorCar.html.
- ↑ "Orphanet: Distrofia macular de Carolina del Norte". https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=ES&Expert=75327.
- ↑ 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. PMID 12960208. PMC 1735576. https://jmg.bmj.com/content/40/9/641.
- ↑ "North Carolina macular dystrophy - About the Disease - Genetic and Rare Diseases Information Center". https://rarediseases.info.nih.gov/diseases/9179/north-carolina-macular-dystrophy.
- ↑ "Macular Dystrophy, North Carolina | Hereditary Ocular Diseases". https://disorders.eyes.arizona.edu/disorders/macular-dystrophy-north-carolina.
Original source: https://en.wikipedia.org/wiki/North Carolina macular dystrophy.
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