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Case Reports
. 2008 Jun;126(6):807-11.
doi: 10.1001/archopht.126.6.807.

Retinal morphological changes of patients with X-linked retinoschisis evaluated by Fourier-domain optical coherence tomography

Christina Gerth  1 , Robert J Zawadzki, John S Werner, Elise Héon
Affiliations
Case Reports

Retinal morphological changes of patients with X-linked retinoschisis evaluated by Fourier-domain optical coherence tomography

Christina Gerth et al. Arch Ophthalmol. 2008 Jun.

Abstract

Objective: To investigate the retinal microstructure and lamination of patients affected with X-linked retinoschisis (XLRS) using high-resolution imaging modalities.

Methods: Patients diagnosed as having XLRS underwent assessment. Visual function testing included visual acuity, color vision, and full-field electroretinography. We used a high-resolution Fourier-domain optical coherence tomography (FD-OCT) system (4.5-mum axial resolution; 9 frames/s; 1000 A-scans per frame) combined with a handheld scanner. Macular image evaluation included schisis localization and retinal layer integrity.

Results: Six patients with XLRS and identified mutations in the XLRS1 gene underwent testing. Visual acuity ranged from 0.2 to 1.6 logMAR (logarithm of the minimum angle of resolution). Results of FD-OCT revealed foveal schisis extending from the outer to the inner plexiform layer in 4 of 6 patients. Bullous foveal schisis was associated with younger age. All patients showed extrafoveal schisis within the outer and inner nuclear and ganglion cell layer, alone or in combination. Photoreceptor outer and inner segment layers were disrupted and irregular in all patients.

Conclusions: Retinal dystrophy in XLRS is reflected by morphological changes within the inner and outer retinal layers. Disturbed foveal photoreceptor integrity was identified in all patients. Retinal layer abnormalities correlated with age but did not appear to correlate with visual acuity or genotypic variation.

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Figures

Figure 1
Figure 1
A 5-mm horizontal Fourier-domain optical coherence tomography image obtained through the right macula of a control subject aged 16 years. CL indicates connecting cilia; GCL, ganglion cell layer; ILM/NFL, internal limiting membrane/nerve fiber layer; INL, inner nuclear layer; IPL, inner plexiform layer; ISL, inner segment layer; OLM, outer limiting membrane; ONL, outer nuclear layer; OPL, outer plexiform layer; OSL, outer segment layer; RPE/BM, retinal pigment epithelium/Bruch membrane; and VM, Verhoeff membrane.
Figure 2
Figure 2
Composites of horizontal 6-mm Fourier-domain optical coherence tomography (FD-OCT) images. A, Images from patient 1, aged 12 years (right eye [RE]), and patient 3, aged 15 years (RE); both patients carry a Pro203Leu mutation on XLRS1. Bullous foveal schisis extends from the outer to the inner plexiform layer (OPL). Extrafoveal schisis is located within the outer (ONL) and inner nuclear layers (INL) and the ganglion cell layer (GCL). Foveal photoreceptor inner (ISL) and outer (OSL) segment layers are disrupted in both scans. The Verhoeff membrane (VM) (arrowhead [patient 1]) is visible only extrafoveally. B, Images from the RE and left eye (LE) of patient 2, aged 14 years, who carries an Arg200Cys mutation on XLRS1. Asymmetry of foveal schisis is evident with laminar schisis (RE) and bullous schisis (LE) extending from the OPL to the IPL. Extrafoveal schisis is similar to that seen in part A. Subfoveal photoreceptor ISL and OSL are markedly disrupted (oval). C, Images from patient 5, aged 33 years (RE), who carries an Arg102Tryp mutation on XLRS1, and patient 6, aged 38 years (LE), who carries an IVS1-34A→G mutation. In both images, the macula shows extrafoveal flattened schisis within the ONL only. More severe photoreceptor ISL and OSL integrity changes are evident (ovals).
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