Detailed Morphological Changes of Foveoschisis in Patient with X-Linked Retinoschisis Detected by SD-OCT and Adaptive Optics Fundus Camera

Abstract

Purpose. To report the morphological and functional changes associated with a regression of foveoschisis in a patient with X-linked retinoschisis (XLRS). Methods. A 42-year-old man with XLRS underwent genetic analysis and detailed ophthalmic examinations. Functional assessments included best-corrected visual acuity (BCVA), full-field electroretinograms (ERGs), and multifocal ERGs (mfERGs). Morphological assessments included fundus photography, spectral-domain optical coherence tomography (SD-OCT), and adaptive optics (AO) fundus imaging. After the baseline clinical data were obtained, topical dorzolamide was applied to the patient. The patient was followed for 24 months. Results. A reported RS1 gene mutation was found (P203L) in the patient. At the baseline, his decimal BCVA was 0.15 in the right and 0.3 in the left eye. Fundus photographs showed bilateral spoke wheel-appearing maculopathy. SD-OCT confirmed the foveoschisis in the left eye. The AO images of the left eye showed spoke wheel retinal folds, and the folds were thinner than those in fundus photographs. During the follow-up period, the foveal thickness in the SD-OCT images and the number of retinal folds in the AO images were reduced. Conclusions. We have presented the detailed morphological changes of foveoschisis in a patient with XLRS detected by SD-OCT and AO fundus camera. However, the findings do not indicate whether the changes were influenced by topical dorzolamide or the natural history.

Figure 1

Time course of the changes in the full-field ERGs in the left eye of a patient with XLRS and a normal control is shown. The baseline of full-field ERGs recorded from the left eye of the patient and the same eye after 14 months of follow-up is shown on the top and middle row. The full-field ERGs of the normal control are shown in the bottom row. The dark-adapted 0.01, dark-adapted 3.0, light-adapted 3.0, and light-adapted 3.0 flicker ERGs of the full-field ERGs are shown. The amplitudes and implicit times of the full-field ERGs of the patient during the follow-up do not differ from those at the baseline.

Figure 2

Local responses, topographic map, and average densities of the rings of the multifocal ERGs are shown. The baseline data from the right eye (a) and the left eye (b) of the patient and the data after 14 months of follow-up (c and d) are shown. The amplitudes of the mfERGs in the foveal area are severely reduced in both eyes at baseline. The amplitude of mfERGs after 14 months of follow-up is not changed.

Figure 3

Fundus photographs and fundus autofluorescence (FAF) images of a patient with X-linked retinoschisis (XLRS). Fundus photographs show spoke wheel-like maculopathy in the left eye and central atrophy in the right eye. The FAF images show hypofluorescent areas in both maculas.

Figure 4

Time course of foveoschisis in SD-OCT images from the baseline is shown. (a) Baseline OCT image (180°) of the right eye showing central atrophy and a thinning of the entire retina. (b) Baseline OCT image (180°) of the left eye showing foveoschisis mainly in inner nuclear layer. The ellipsoid and interdigitation zones are not visible in the fovea of both eyes. (c) OCT image of the left eye after 4 months of treatment with dorzolamide. (d) OCT image of the left eye 7 months later. (e) OCT image of the left eye 14 months later. (f) OCT image of the left eye 20 months later. (g) OCT image of the left eye 24 months later.

Figure 5

The baseline montage of AO images obtained from the macular region of the patient is shown. A montage of AO image of left eye shows spoke wheel pattern of the retinal folds in the inner retinal layer. The right eye does not show any folds. Bars 200 μm.

Figure 6

Time course of AO images and images (a, c, e) with highlighted retinal folds (b, d, f). (a) and (b) Baseline AO image (a) and image with highlighted retinal folds (b) of the left eye are shown. Spoke wheel pattern of retinal folds is highlighted by yellow line in (b). Red circle indicates 500 μm circle from the fixation point. (c) and (d) AO image of the same eye after 4 months of treatment with dorzolamide is shown. (e) and (f) AO image of the same eye after 20 months of treatment with dorzolamide is shown. Bar 200 μm.