Chapter

North Carolina Macular Dystrophy/Mcdr1

Kean T. Oh and Kent Small

in Genetic Diseases of the Eye, Second Edition

Second edition

Published on behalf of © Elias I. Traboulsi

Published in print January 2012 | ISBN: 9780195326147
Published online October 2012 | e-ISBN: 9780199975181 | DOI: http://dx.doi.org/10.1093/med/9780195326147.003.0027

Series: Oxford Monographs on Medical Genetics

North Carolina Macular Dystrophy/Mcdr1

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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.

Chapter.  2297 words.  Illustrated.

Subjects: Clinical Genetics ; Ophthalmology

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