UNASSIGNED: Congenital X-linked retinoschisis (XLRS) presents as macular retinoschisis/degeneration in almost all patients and as peripheral retinoschisis in half the patients. Although the optical coherence tomography (OCT) findings of macular retinoschisis have been well investigated, those of peripheral retinoschisis have rarely been reported. This study aimed to report the ultra-widefield OCT findings of the peripheral retina in patients with XLRS.
UNASSIGNED: Medical records of 10 Japanese patients (19 eyes) with clinically and/or genetically diagnosed XLRS were retrospectively reviewed. Funduscopic, electroretinographic, and OCT findings were reviewed and evaluated. Some were also genetically evaluated for the RS1 gene.
UNASSIGNED: OCT of the macula revealed schises and/or cystoid changes in the inner nuclear layer (INL) and outer nuclear layer. In contrast, OCT of the peripheral retina revealed schises and/or cystoid changes in the INL in eight eyes (44%), and/or splitting in the ganglion cell layer (GCL) in 10 (56%) of the 18 eyes with clear OCT images. No schisis or cystoid changes were found in the peripheral OCT images of eight eyes (44%). A 16-year-old boy presented with retinal splitting of the GCL and INL of the inferior retina, although he had no ophthalmoscopic peripheral retinoschisis. Genetic examinations were performed on three patients, all of whom had reported missense mutations in the RS1 gene.
UNASSIGNED: In XLRS, peripheral bullous retinoschisis results from GCL splitting in the retina. One of the 10 patients with XLRS showed intraretinal retinoschisis in the GCL in the inferior periphery, which was unremarkable on ophthalmoscopy (occult retinoschisis). Although both peripheral bullous retinoschisis and occult retinoschisis showed splitting/cystic changes in the GCL, further studies are needed to determine whether occult retinoschisis progresses to bullous retinoschisis.

Purpose: We aim to analyze the clinical and genetic features in a Chinese family with congenital retinoschisis by whole-exome sequencing and comprehensive clinical examination. Methods: Six members were recruited from a Chinese family. Three of them were diagnosed as congenital retinoschisis, including two twin siblings. All subjects received a full eye examination. Whole-exome sequencing (WES) and Sanger sequencing were performed on two twin probands and all participants, respectively. Results: A novel splice site mutation RS1.c.53-1G>A was identified in a Chinese congenital retinoschisis family. The mean onset age was 16.7 ± 2.4 years old. The average BCVA in patients was 0.37 ± 0.05. A typical spoke-wheel pattern was observed in all affected eyes. OCT examination results showed fovea schisis and schisis cavities were located in the inner nuclear layer in 100% eyes (6/6). ERG b/a ratio was decreased markedly, but was still more than 1 in the four eyes that were available. Conclusion: The present study discovered a new pathogenic splice cite variant of RS1 in congenital retinoschisis, which expands the mutational spectrum. In contrast to previous research, the phenotype of patients with the same mutation within one family was highly similar. Early molecular testing is crucial for early diagnosis, clinical management, and genetic counseling of patients with congenital retinoschisis.

The purpose of the present study was to assess the clinical characteristics of X-linked retinoschisis (XLRS) in a Chinese family over a 7-year period with the aim of identifying possible genetic mutations associated with this disease. A total of 2 male siblings from a family with XLRS were followed up for 7 years and the best-corrected visual acuity and data obtained using slit-lamp microscopy, indirect ophthalmoscopy, fundus photography, spectral domain-optical coherence tomography (OCT), fundus autofluorescence and fundus fluorescence (FFA) and multifocal electroretinograms (ERG) were examined. The coding regions of the retinoschisin 1 (RS1) gene were amplified by PCR and sequenced directly. The proband exhibited blurred vision at 12 years old and was indicated to exhibit a typical phenotype of XLRS at 30 years old. The elder brother exhibited blurred vision at 11 years old and was diagnosed with XLRS at 33 years old. There was no change in the best-corrected visual acuities in the two patients over the 7 years. The OCT results suggested that there were intraretinal cysts and macular atrophy in the eyes of the older sibling, whilst a \'spoke-wheel\' pattern was present in the macula of the younger sibling. In addition, OCT examination revealed foveal schisis. FFA analysis indicated a hyperfluorescent signal in the central macula. Multifocal ERG recordings indicated that responses were markedly reduced in the central and outer rings bilaterally. The central retinal thickness of the younger sibling increased but the central retinal thickness of the older sibling was not changed during the 7 years. Sequencing analysis revealed that the mutation was c.366G>A (p.Trp122*) in exon 5 of Xp22.1. Gene mutation analysis indicated that the affected male siblings harbored a Trp122* (c.366G>A) mutation, while the patients\' mother was demonstrated to be a heterozygous carrier of the pathogenic mutation. To conclude, the present study discovered a novel XLRS mutation in a Chinese family, where the Trp122* mutation caused a significant change in the function of the RS1 protein. Over the 7 years of observation, although the vision was not significantly impaired in the two patients examined, the central retinal thickness of the younger sibling increased but the central retinal thickness of the older sibling was not altered.

Retinoschisis can be found in the fovea or the retinal periphery, either of which may be present in isolation, or in conjunction with each other. Foveal schisis may be congenital, acquired, or secondary to an associated ocular pathology such as optic pit, glaucoma, or pathological myopia. The visual acuity is dependent on the cause of the schisis and appropriate treatment is variable based on likelihood for progression and visual impact. There are many useful considerations and tools for evaluation and monitoring that can be used to determine the aetiology and prognosis of these retinal findings. Retinoschisis is a diagnosis of exclusion, and pathology must be ruled out to accurately make the diagnosis. A review of two cases and following discussion summarises the various types, manifestations, presentations, and complications of retinoschisis and their evaluation, management, and appropriate monitoring or treatment. These cases lead a dialogue on the presentation and aetiology of retinoschisis, important considerations for differential diagnoses, and appropriate management.