FIGURE 29.1 The iris may demonstrate anomalous vasculature with poor dilation and varying degrees of posterior capsular plaque (A). The posterior pole of the same eye shows elongation of the ciliary processes and persistent hyaloid structures (stalk) demonstrating the anterior–posterior changes affecting the eye (B).
FIGURE 29.2 The retinal vasculature shows primitive development with a small area of vascularization, subretinal exudate, and retinal pigment changes under the peripheral avascular retina (A). Fluorescein angiography clearly shows the abnormal pattern of retinal vasculature (B).
The Norrie disease protein (gene NDP), originally named EVR2, was described over a decade ago, giving way to the classification of a number of congenital retinopathies as “NDPrelated.” These include persistent fetal vasculature syndrome, retinopathy of prematurity (ROP), Coats disease, and X-linked familial exudative vitreoretinopathy (X-linked FEVR) (18). Severe presentations of these diseases, as well as stage 5 ROP, can be indistinguishable from Norrie disease by examination alone (Fig. 29.3). The family history is very helpful, as affected male family members generally have severe vision loss documented at or near birth. Abnormal hearing and/or cognitive issues are seen in both Norrie disease and extreme prematurity. Birth history and clinical course will distinguish between these two entities. Retinoblastoma must also be ruled out. Often this can be done easily by clinical examination alone, but occasionally computed tomographic scanning and/or ultrasound is necessary when leukocoria is the presenting sign.
FIGURE 29.3 The retrolental fibrosis and contraction of the primary vitreous may look similar to stage 5 ROP.
Historically no treatment options have been offered to these patients. Jacklin (19
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