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Published on: December 29, 2017
North Carolina Macular Dystrophy
Stephen H Tsang1,2, Tarun Sharma3
1Jonas Children's Vision Care, Bernard & Shirlee Brown Glaucoma Laboratory, Columbia Stem Cell Initiative-Departments of Ophthalmology, Biomedical Engineering, Pathology & Cell Biology, Institute of Human Nutrition, Vagelos College of Physicians and Surgeons, Columbia University, New York, NY, USA.
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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