Figure 4. Fundus, autofluorescence, and optical coherence tomography (OCT) images of patients with North Carolina Macular Dystrophy (NCMD). A: Fundus images from the right eye of patient III-3, recorded at the age of 19 years. Red-free fundus photographs (upper left) show the dense pattern of approximately 1,500 small semiconfluent yellowish drusen-like elements of 12–25 µm in diameter distributed relatively evenly within one disk diameter of the foveal center, except for a relative sparing of the most central part of the fovea. Autofluorescence fundus photography (upper middle) shows marked hyperfluorescence of the bright drusen-like elements. Some of the smaller elements are likely below the resolution of the autofluorescence imaging system. In and around the foveal center, small, irregular dark patches are seen, which may be attributable to atrophy or to areas of normal fundus that are circumscribed by diffusely hyperfluorescent areas. The diffuse fundus autofluorescence outside the macula does not appear to be elevated compared to healthy subjects of the patient’s age. Color fundus photography (upper right) demonstrates the yellow color of the drusen-like elements being enhanced centrally, presumably by the xanthophyll in Henle’s layer. Horizontal transfoveal optical coherence tomography (OCT, below) shows a normal anatomy of the inner retina, including a normal foveal depression. The photoreceptor-retinal pigment epithelium (RPE) complex appears normal near the optic disk, where all three hyperreflective (dark) and two intervening hyporeflective bands are visible. In the fovea, this pattern is interspersed by localized thickening that involves both the inner and the outer layers of the complex. There are no definite signs of serous detachment of the RPE from Bruch’s membrane, which gives the impression that the basal layers of the photoreceptor outer segment/RPE complex are thickened. Right under the center of the foveola, the inner layers of this complex appear to be locally thickened. B: Selected OCTs from patient III-3, recorded at the age of 19 years. Transfoveal (top and bottom) and parafoveal (middle) OCTs from the right eye (top and middle) and the left eye (bottom). The foci of localized thickening of the photoreceptor outer segment/RPE complex (up arrows) were sufficiently hyperreflective to indicate that the outer layers of the complex were thickened or that very small drusen had formed between the RPE and Bruch’s membrane. Serous detachment of the RPE from Bruch’s membrane was not seen. Localized thickening of the inner layers of the complex was seen under the center of the fovea (down arrow). C: Stereoscopic fundus photographs from patient III-3, recorded at the age of 19 years. The stereoscopic effect is seen by converging on a point half way between the observer and the figure, so that the two images fuse to a third image in the middle with stereoscopic depth.