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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