As mentioned above, foveoschisis or nonspecific macular degeneration is always present in patients with XLRS. We have studied one patient who had a peripheral schisis with normal maculas. This 15-year-old boy had visual acuity of 1.0 in both eyes also visual field defects in both eyes. His maternal brother was reported to have poor visual acuity but was not available for examination. A peripheral schisis with inner retinal breaks in the inferior retina was present in both fundi, but ophthalmoscopy and fluorescein angiography showed that the maculas were normal (Fig. 2.47). The full-field ERGs were the negative type, but the focal macular ERGs were normal (Fig. 2.48). Gene analysis has not been performed.
The ERGs of these patients suggest that, unlike most patients with XLRS, the functional abnormality is not widespread or homogeneous. It is limited to the area of the schisis that can be seen ophthalmoscopically.
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