X-Linked Retinoschisis Masquerading Uveitis

Abstract

X-linked retinoschisis (XLRS) shows features also seen in patients with uveitis and is recognized as an uveitis masquerade syndrome. This retrospective study aimed to describe characteristics of XLRS patients with an initial uveitis diagnosis and to contrast these to patients with an initial XLRS diagnosis. Patients referred to a uveitis clinic, which turned out to have XLRS (n = 4), and patients referred to a clinic for inherited retinal diseases (n = 18) were included. All patients underwent comprehensive ophthalmic examinations, including retinal imaging with fundus photography, ultra-widefield fundus imaging, and optical coherence tomography (OCT). In patients with an initial diagnosis of uveitis, a macular cystoid schisis was always interpreted as an inflammatory macular edema; vitreous hemorrhages were commonly interpreted as intraocular inflammation. Patients with an initial diagnosis of XLRS rarely (2/18; p = 0.02) showed vitreous hemorrhages. No additional demographic, anamnestic, and anatomical differences were found. An increased awareness of XLRS as a uveitis masquerade syndrome may facilitate early diagnosis and may prevent unnecessary therapies.

Keywords: RS1; X-linked retinoschisis; masquerade syndrome; phenocopy; phenotyping; uveitis.

Figure 1

Retinal findings of X-linked retinoschisis (XLRS) patients referred for an uveitis assessment. (A–C): #19; (A), ultra-widefield fundus image (UWF) demonstrates the presence of retinal metallic sheen (MS) and vitreous veils; (B,C), spectral-domain optical coherence tomography (SD-OCT) shows macular cystoid schisis (MCS) of the inner nuclear layer (INL) and outer plexiform layer (OPL). (D–F): #20; (D), UWF showing vascular sheathing, white spiculations, and peripheral retinoschisis; (E), SD-OCT shows MCS of INL; (F), late venous fluorescein angiography showing peripheral retinal vascular defects with leakages and nonperfusion areas. (G,H): #21; G, color fundus photography revealing spoke wheel pattern configuration of the macula; (H), SD-OCT delineating the MCS in ganglion cell layer (GCL), INL, OPL and outer nuclear layer (ONL). (I): #22; SD-OCT with MCS of GCL and INL.