Abstract
North Carolina macular dystrophy (NCMD) has a variable phenotype (Fig. 21.1). Patients are usually infants, in whom the fundus shows a cluster of yellowish-white lesions (like drusen) at the macula (grade 1); sometimes the lesions are confluent (grade 2). As the disease progresses, retinal pigment epithelial (RPE) atrophy sets in, and the lesion may appear excavated like a coloboma (grade 3) or a toxoplasmosis scar with a thick, white, fibrotic rim.
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Reichel M, Kelseli R, Fan J, Gregory CY, Evans K, Moore AT, et al. Phenotype of a British North Carolina macular dystrophy family linked to chromosome 6q. Br J Ophthalmol. 1998;82:1162–8.
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Tsang, S.H., Sharma, T. (2018). North Carolina Macular Dystrophy. In: Tsang, S., Sharma, T. (eds) Atlas of Inherited Retinal Diseases. Advances in Experimental Medicine and Biology, vol 1085. Springer, Cham. https://doi.org/10.1007/978-3-319-95046-4_21
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DOI: https://doi.org/10.1007/978-3-319-95046-4_21
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