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 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 |
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
edit- ^ "North Carolina Macular Dystrophy".
- ^ "Orphanet: Distrofia macular de Carolina del Norte".
- ^ 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.
- ^ "North Carolina macular dystrophy - About the Disease - Genetic and Rare Diseases Information Center".
- ^ "Macular Dystrophy, North Carolina | Hereditary Ocular Diseases".