North Carolina macular dystrophy is an extremely rare autosomal dominantgenetic 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.
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]
^"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. PMC1735576. PMID 12960208.
^"North Carolina macular dystrophy - About the Disease - Genetic and Rare Diseases Information Center".
^"Macular Dystrophy, North Carolina | Hereditary Ocular Diseases".
October 28, 2023
north, carolina, macular, dystrophy, extremely, rare, autosomal, dominant, genetic, disorder, that, primarily, affects, eyes, progressive, disorder, which, characterized, abnormal, development, macula, multiple, drusen, photoreceptor, cells, atrophy, central, . 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 dystrophyOther 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 abnormalitiesComplicationsBlindnessUsual onsetBirthDurationLife longCausesGenetic mutationRisk factorsHaving at least one parent with the disorderFrequencyRareThis 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 Retrieved from https en wikipedia org w index php title North Carolina macular dystrophy amp oldid 1089697140, wikipedia, wiki, book, books, library,
