Foveomacular Schisis in Juvenile X-Linked Retinoschisis: An Optical Coherence Tomography Study JIA YU, YINGQIN NI, PEARSE A. KEANE, CHUNHUI JIANG, WENJI WANG, AND GEZHI XU ● PURPOSE: To explore the structural features of juve- nile X-linked retinoschisis using spectral-domain optical coherence tomography (OCT). ● DESIGN: Retrospective, observational cross-sectional study. ● METHODS: Eighteen male patients (34 eyes) who were diagnosed with juvenile X-linked retinoschisis at the Eye & ENT Hospital of Fudan University over an 18-month period were included. Their OCT images, which were obtained using spectral-domain OCT (Cirrus HD-OCT; Carl Zeiss Meditec), were analyzed. The anatomic loca- tion of the schisis cavity in juvenile X-linked retinoschi- sis was characterized by direct inspection of OCT images. ● RESULTS: On OCT, the schisis cavity was visible at the fovea in all 34 eyes, and it was associated with increased retinal thickness. Schisis was present at the retinal nerve fiber layer in 4 eyes, at the inner nuclear layer in 29 eyes, and at the outer nuclear layer/outer plexiform layer in 22 eyes. In most cases, widespread foveomacular schisis was detected using OCT; however, in 9 eyes (6 patients), the schisis was confined to the fovea. Schisis of the inner nuclear layer and outer nuclear layer/outer plexiform layer almost always involved the foveal center, but retinal nerve fiber layer schisis was seen only in the parafoveal area. ● CONCLUSIONS: Despite conventional wisdom, in pa- tients with X-linked retinoschisis, the schisis cavity can occur in a number of different layers of the neurosensory retina (retinal nerve fiber layer, inner nuclear layer, and outer nuclear layer/outer plexiform layer). In addition, different forms of schisis may affect different locations in the macula (foveal vs parafoveal), and, in most eyes, the schisis involves the entire foveomacular region. (Am J Ophthalmol 2010;149:973–978. © 2010 by Elsevier Inc. All rights reserved.) J UVENILE X-LINKED RETINOSCHISIS HAS BEEN REFERRED to as congenital hereditary retinoschisis, congenital vascular veil, vitreous veils, and cystic disease of the retina in children. 1–3 On clinical examination, a bilateral cyst- like stellate maculopathy or foveal schisis is present in every case and may be associated with inferotemporal retinoschisis in approximately 50% of patients. 3 Early histopathologic studies reported splitting of the retinal nerve fiber layer (RNFL) and ganglion cell layers (GCLs) 4,5 ; however, these reports did not provide infor- mation regarding the early stages of foveal schisis, and in vivo imaging of fine retinal structures was not available at the time. With the advent of optical coherence tomography (OCT), it is possible to obtain high-resolution cross- sectional images of the neurosensory retina in a noninva- sive manner, and thus, to characterize many forms of retinal pathologic features. 6,7 Using OCT, the typical cystic maculopathy of juvenile X-linked retinoschisis has been examined previously. 8 –16 However, the location of schisis cavity within the neuroretina varied between dif- ference studies, including the inner nuclear layer (INL), outer plexiform layer (OPL), and the outer nuclear layer (ONL). 8 –15 Interestingly, extramacular OCT scans have demonstrated schisis nearer the RNFL. 16 Despite these studies, much remains to be learned about the evolution of the structural changes seen in this disorder, in particular the anatomic association between foveal and peripheral retinoschisis. Recently, the introduction of spectral-do- main OCT, offering higher axial resolution (approximately 6 m), has afforded new opportunities to explore the morphologic features of this disorder. 17 In this study, we used high-speed spectral-domain OCT to localize the foveal schisis cavities that occur in patients with juvenile X- linked retinoschisis and to characterize further the struc- tural features of this disorder. METHODS EIGHTEEN MALE PATIENTS (34 EYES) WHO WERE DIAGNOSED with juvenile X-linked retinoschisis at the Eye & ENT Hospital of Fudan University, Shanghai, from May 2008 through October 2009 and who previously underwent OCT imaging were identified. Their medical records re- viewed, and the following information was collected: family history, personal medical history, best-corrected visual acuity, and details of clinical examination. For each case, color fundus photographs, fluorescein angiograms, and electroretinogram reports also were collected where available. Accepted for publication Jan 15, 2010. From the Department of Ophthalmology, Eye and ENT Hospital of Fudan University, Shanghai, People’s Republic of China (J.Y., C.J., W.W., G.X.); and the Doheny Eye Institute, Keck School of Medicine, University of Southern California, Los Angeles, California (P.A.K.). Inquiries to Chunhui Jiang, Department of Ophthalmology, Eye and ENT Hospital of Fudan University, 83 Fenyang Road, Shanghai 200031, Peoples Republic of China; e-mail: jiangchh@hotmail.com © 2010 BY ELSEVIER INC.ALL RIGHTS RESERVED. 0002-9394/$36.00 973 doi:10.1016/j.ajo.2010.01.031