North Carolina Macular Dystrophy/Mcdr1
- DOI:
- 10.1093/med/9780195326147.003.0027
NCMD is an autosomal dominant congenital condition with minimal progression and a relatively good prognosis. Most families with this condition in the United States are related to a common ancestor originating from the Carolinas in the 1700s. However, other families exist throughout the world and represent distinct mutations in the causative gene. Regardless, the relatively good prognosis and variable phenotypic appearance may result in NCMD being under diagnosed worldwide. In a setting of a strong family history of macular degeneration in a young person with a macular appearance that seems worse than a patient's visual function, NCMD should be considered in the differential diagnosis.
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