Outcome of vitreoretinal surgery for rhegmatogenous retinal detachment in X-linked juvenile retinoschisis

Purpose: Rhegmatogenous retinal detachment (RRD) is a vision-threatening complication of X-linked juvenile retinoschisis (XLRS). The aim of this study is to report the anatomical and functional outcomes of vitreoretinal surgery for the treatment of RRD in X-linked juvenile retinoschisis (XLRS). Methods: This is a retrospective, interventional, consecutive case series in which case records of 34 eyes of 28 XLRS patients, who underwent surgery for RRD, were reviewed. Statistical analysis used is as follows: visual outcomes were categorized into three groups: improved, remained stable or deteriorated. Wilcoxon signed-rank test was used to determine the difference in visual acuity at baseline and at final visit. Univariate binary logistic regression analysis was used to determine the risk factors for retinal detachment. Any P value < 0.05 was considered as statistical significant. Results: Mean age of the boys at presentation was 9.2 ± 3.5 years. Indication for surgery was RRD in all eyes. Concurrent vitreous haemorrhage was present in four eyes (11.8%). The primary surgical intervention was scleral buckle in 12 eyes and pars plana vitrectomy in 22 eyes. Persistence of subretinal fluid/redetachment was seen in 15 eyes of which 11 eyes underwent additional surgeries. At final follow up, 27 eyes (79.4%) were noted to have an attached retina. Of the total eyes, in 20, 6 and 8 eyes the visual acuity improved, stabilized and deteriorated, respectively. Conclusion: Favourable outcomes are seen in a majority of eyes after vitreoretinal surgery for RRD in XLRS; however, multiple surgical interventions may be necessary.

Recent progress in molecular genetics and therapy for X-linked juvenile retinoschisis / 中华实验眼科杂志

Juvenile retinoschisis (RS or XLRS,MIM#312700)is a rare X-linked inherited disorder,mainly affects bilateral retina,and is characterized by cartwheel-like changes of the macular region of the retina and schisis or splitting within the inner retinal layers,leading to visual deterioration.The electroretinogram is beneficial in the diagnosis of juvenile retinoschisis.The a-wave can be of normal or nearly normal amplitude in this disorder,whereas the amplitude of the b-wave is appreciably reduced,giving a decrease in the proportion of b/a.The responsible gene,XLRSl,maps to Xp22 and was identified by positional cloning.This paper makes a brief review about the latest XLRS research of pathogenesis,animal experiments,clinical therapy,and 25 references are cited.

Association of clinical features of X linked juvenile retinoschisis with new mutations in XLRS1 gene in Chinese families / 中华实验眼科杂志

Background The main cause of X linked juvenile retinoschisis is mutation of RS1 gene.The phenotype of X linked juvenile retinoschisis is associated with the mutation types of RS1 gene.However,the relationship of genotype and phenotype of X linked juvenile retinoschisis is unclear.Objective The present study was to survey the clinical phenotype of X-linked juvenile retinoschisis in twelve Chinese families with eleven different mutations in the XLRS1 gene. Methods Complete ophthalmic examinations with slit lamp biomicroscopy,fundus examination and Dhotography were carried out in 28 affected males.Ganzfeld electroretinography (ERG),fundus fluorescein angiography,A and B-scan standardized echography and optical coherence tomography(OCT)were also performed in some patients.The coding regions of the XLRS1 gene that encodes retinoschisin were amplified by polymerase chain reaction(PCR)and analyzed by the single strand conformation polymorphism(SSCP)assay.The RS1 gene mutations were determined by direct sequencing in an automated sequencer.Written informed consent wasobtained prior to the survey. Results The 28 affected males showed a typical foveal schisis with or without peripheral retinoschisis.The typical response to white single flash ERG was seen with a reduction of the b-wave amplitude and a relative preservation of the a-wave amplitude.causing a reduced b/a ratio in the male patients.A total of eleven different XLRS1 mutations in 12 families were identified,four of these mutations,including one frameshift mutaion(22 del T)of exon 1,Asp145His,Arg156Gly and Trp163X mutations of exon 5,were first described in this survey.One non-disease-related polymorphism(NSP),or the 576C to T(Pro192Pro)change of exon 6 was also newly reported herein.In the families with a frameshift(22 del T)mutation of exon 1,a splice donor site mutation(IVS1+2T

Infantile Vitreous Hemorrhage as the Initial Presentation of X-linked Juvenile Retinoschisis

The authors report two cases of X-linked juvenile retinoschisis (XLRS) manifested as bilateral vitreous hemorrhage as early as in an 1-month-old infant and in a 3-month-old infant. The one-month-old male infant showed massive bilateral vitreous hemorrhage. During vitrectomy, thin membrane representing an inner part of schisis cavity was excised and intraschisis hemorrhage was evacuated. As intraschisis cavities were cleared, the stump of inner layer appeared as the demarcation line between the outer layer of the schisis retina and non-schisis retina. The other three-month-old male infant presenting with esodeviation also showed bilateral vitreous hemorrhage. Typical bilateral retinoschisis involving maculae could be seen through vitreous hemorrhage in both eyes on fundus examination. Spontaneous absorption of hemorrhage was observed on regular follow-up. XLRS could be manifested as massive hemorrhage inside or outside of the schisis cavity early in infancy.

Long-term Results of Vision and Fundus Findings in X-linked Juvenile Retinoschisis

PURPOSE: To evaluate long-term changes in visual acuity, fundus findings and complications in X-linked juvenile retinoschisis. METHODS: A retrospective chart review was conducted on 48 patients diagnosed with X-linked juvenile retinoschisis and followed for a minimum of 12 months. RESULTS: Forty-eight males (mean age 5.7 years) were followed for a mean of 6.3 years. The mean visual acuities were 0.14 at the initial and most recent examinations without significant change (p=0.67). Macular abnormalities were seen in all eyes. Macular lesions varied as follows: decreased foveal reflex (12.5%), typical foveal schisis (77.1%), atrophic change (5.2%), and macula-involving peripheral schisis (5.2%). When patients had different macular findings, the mean visual acuities were significantly different among groups (p< or =0.005), except those between the atrophic change group and the macula-involving peripheral schisis group. Peripheral schisis was detected in 66% of patients. The fundus findings were stationary during the follow-up period except in complicated cases with vitreous hemorrhage (15.6%). CONCLUSIONS: X-linked juvenile retinoschisis causes bilateral visual acuity loss, affecting maculae. In uncomplicated cases, changes in visual acuity and fundus findings were not significant during the follow-up period.

Identification of mutation of the X-linked juvenile retinoschisis gene / 中华眼底病杂志

Objective To analyze the pathogenesy and mutation of X-linked juvenile retinoschisis (XLRS) 1 gene in XLRS families, and to provide the theory basis in directing gene diagnosis. Methods The mutation of XLRS1 gene code in two XLRS families were detected and screened by polymerase chain reaction (PCR) and DNA direct sequence determination. Results Pro193Ser mutation was detected in family 1. Conclusion Pro193Ser mutation could be found in XLRS families, which can be used for genetic consultation and prenatal gene diagnosis.