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H. Gao, R. Kusumi, C. Yung; Optical Coherence Tomography Findings in X–linked Juvenile Retinoschisis . Invest. Ophthalmol. Vis. Sci. 2004;45(13):3527.
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© ARVO (1962-2015); The Authors (2016-present)
Purpose: X–linked juvenile retinoschisis presents as congenital bilateral retinal degeneration and is caused by a mutation of retinoschisin gene on the short arm of the X chromosome (Xp22). Clinically, cystoid changes arranged in a stellate pattern are seen at the fovea in all patients, along with a peripheral schisis in 50% of cases. Previous histological studies showed that peripheral retinal schisis is located in the retinal nerve fiber layer. In this report, we used optical coherence tomography (OCT) to examine the foveal areas in two patients with juvenile retinoschisis. Methods: A 19 year old African–American male and his 12 year old brother both with progressive poor vision since childhood were given a full eye examination. Fundus photography and OCT were obtained for these two patients. Results: Fundus exam shows typical stellate cystoid changes at the fovea as well as inferior peripheral retinoschisis in both patients. The OCT of 19 year old patient shows that the inner nuclear layer and ganglion cell layer are condensed into a single layer. Large foveal cystoid spaces are present in the outer retina, specifically in the outer plexiform layer. These cystoid spaces are of relatively uniform thickness with multiple bridging strands crossing in the cystoid spaces. These strands are vertically oriented and, in some areas, very evenly spaced, resembling a ladder resting on its side. The retinal pigment epithelium (RPE) presents focal atrophic changes. The OCT findings of 12 year old brother show early cystoid development in the foveal center in the right eye. In the left eye, small cystoid changes start to develop on the temporal side of fovea, but not on the nasal side yet. These cystoid changes are clearly localized in the outer plexiform layer. Conclusions: Our OCT findings suggest that the primary pathology of the fovea in juvenile retinoschisis is actually in the outer retina, specifically in the outer plexiform layer, not like the peripheral retina where the schisis is located in the nerve fiber layer. This suggests different mechanisms of retinoschisis development in the fovea and peripheral retina. A larger series of OCT imaging is desirable for this interesting disease.
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