PMC3460697_01
Color fundus photographs of Case 1. The right eye (A) demonstrates a cystic spoke-like appearance to the fovea and the presence of a vitreous veil inferiorly. The left eye (B) demonstrates an area of focal foveal thinning, as well as multiple white dots throughout the macula.
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The fundus (Figure 1) and spectral domain optical coherence tomography (SD-OCT) (Figure 2) exams demonstrated findings consistent with XLRS.
Spectral domain optical coherence tomography images of Case 1 taken through the center of the fovea. The right eye (A) demonstrates a large central cyst that extends from the nerve fiber layer to the outer retina. Both the right and left (B) eyes demonstrated the presence of cystic spaces and splitting of the retina in multiple layers, including the nerve fiber layer, the inner plexiform layer, and the outer plexiform layer.. Note: The left eye also disclosed a lamellar macular hole and contraction of the internal limiting membrane nasally (consistent with an epiretinal membrane).
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The fundus (Figure 1) and spectral domain optical coherence tomography (SD-OCT) (Figure 2) exams demonstrated findings consistent with XLRS.
PMC3460697_02
Color fundus photographs of Case 2. The right eye (A) demonstrates a cystic appearance of the fovea. The left eye (B) demonstrates more subtle findings of X-linked retinoschisis.. Notes: The foveola appears normal on clinical examination; however, fine cystic lesions are present in the perifoveal area and in the temporal macula.
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Fundus (Figure 3) and SD-OCT (Figure 4) exams demonstrated findings consistent with XLRS.
Spectral domain optical coherence tomography analysis of the left eye of Case 2. The right eye demonstrated similar findings as the right eye of Case 1 (not shown). Horizontal cuts through the left eye taken above (A) and below (B) the fovea demonstrated multiple small cystic spaces in multiple retinal layers without disruption of the overall structure of the retina.. Notes: The inner segment-outer segment junction appears to be discontinuous in areas; however, this likely represents optical shadowing from the anteriorly located cystic spaces.
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Fundus (Figure 3) and SD-OCT (Figure 4) exams demonstrated findings consistent with XLRS.