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Identification of mutation of the X-linked juvenile retinoschisis gene

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. (Chin J Ocul Fundus Dis，2004，20：149-151)

高度近视眼底后极血管弓旁的光相干断层扫描观察

CLINICAL OBSERVATION OF CONGENITAL RETINOSCHISIS

We report 19 cases(38eyes)of congenital retinoschisis,whose genetic characteristics conform to x-linked recessive heredity.Maculare lesions were found in all cases and 42.1%(16/38)of involved eyes had peripheral retinschisis.In addition to the typical manifestations of multiple cystic appearance of the central vascular veil,we discovered some infrequent sighs,i.e.displaced macula,peripheral globular retinoschisis,solitary vasculare elevation,and retinoschisis area surrounded by the retinal vasculature. （Chin J Ocul Fundus Dis,1993,9:232-233）

Progress on the morphology of paravascular vitreoretinal interface abnormality in high myopia

High myopia (HM) is one of the main causes of vision loss. In recent years, optical coherence tomography and other techniques have shown a variety of vitreoretinal interface abnormalities (VRIA) in highly myopic eyes. Posterior vitreous detachment and paravascular abnormality are the relatively common manifestations of VRIA. Posterior vitreous detachment is classified in several different ways in HM eyes, the onset age of which is earlier in HM. Paravascular abnormality mainly includes paravascular microfold, paravascular cyst, paravascular lamellar hole, and paravascular retinoschisis. The former two are early-stage lesions, the latter two are advanced lesions. VRIA is closely related to many HM's fundus complications, such as myopic retinoschisis, macular hole, retinal detachment and so on. VRIA may develop into myopic retinoschisis, which in turn develop into full-thickness macular hole, and even retinal detachment. Therefore, the examination and judgment of VRIA in HM patients are of great significance for the early prevention and treatment of clinical retina diseases.

A novel mutation Gly109Val in the RS1 gene of X-linked juvenile retinoschisis in a Chinese family

ObjectiveTo report the clinical findings and RS1 gene mutation analysis of a Chinese family with X-linked juvenile retinoschisis (XLRS). MethodsThe pedigree of this XLRS family was studied. Nine individuals (10 eyes of 6 males, 6 eyes of 3 females), including the proband, received ocular examination, fundus photography and optical coherence tomography (OCT). Direct DNA sequencing of the 6 exons of RS1 gene was used to detect the RS1 mutation in 12 family members. ResultsThe present pedigree included 15 members of three generations. Among them, 5 male members were diagnosed with XLRS. The retina of other 4 family members were normal, including 1 male (2 eyes) and 3 females (6 eyes). Visual acuity of these 5 patients ranged from hand movement to 0.5 and both eyes of them were involved. The age when visual acuity begins to decrease was all less than 10 years. Fundus color photographic examination showed macular radial cystoid retinoschisis and retinoschisis of the peripheral retina. OCT images showed retinoschisis in macular regions (8 eyes) or peripheral retina (6 eyes). Genetic testing showed that 1 male had no mutation in RS1 gene (p.Gly109Val). All 5 patients had a point mutation (c.326G>T) at exon 4 of RS1 gene, which cause the 109th amino acid changed from glycine to valine in the RS1 protein. A 3-year-old kid also had this mutation. The 3 females with normal retina had heterozygous mutations of Gly109Val, so they are the mutation carriers. ConclusionThe novel p.Gly109Val mutation is the causing mutation in this Chinese family with X-linked juvenile retinoschisis.

The relationship of retinal morphological features and visual acuity of X-linked juvenile retinoschisis

ObjectiveTo observe the optical coherence tomography (OCT) features of X-linked juvenile retinoschisis (XLRS) and its relationship and visual acuity. Methods Twenty-three XLRS patients (38 eyes) were enrolled in this study.All patients underwent best corrected visual acuity (BCVA) and frequency-domain optical coherence tomography (SD-OCT) examination. The international standard visual acuity chart was used for BCVA test and the results were then converted into logarithm of the minimum angle of resolution (logMAR) visual acuity. The mean logMAR BCVA of all patients was 0.41±0.28. Topcon 3D-OCT 1000 and Topcon DRI-OCT were applied to detect the retinal layers of retinoschisis. Based on the OCT features, retinoschisis was classified into 3 types, including splitting between outer nuclear layer (ONL) and outer plexiform layer (OPL), inner nuclear layer morphology (INL) splitting, splitting between ganglion cell layer (GCL) and nerve fiber layer (NFL). Based on the OCT features of fovea, there were photoreceptor inner segment (IS)/outer segment (OS) presence group and IS/OS absence group. ResultsThere were 17 eyes (44.7%) with splitting between ONL/OPL, 38 eyes (100%) with INL splitting, 13 eyes (34.2%) with splitting between GCL/NFL. INL splitting can coexist with splitting in other retinal layers. There were 25 eyes (65.8%) with splitting in 2 or more retinal layers. The mean logMAR BCVA were 0.32±0.17 and 0.44±0.22 respectively in the IS/OS absence group and presence group, the difference was statistically significant (t=6.531, P=0.008).The mean fovea thickness (FT) were(517.10±96.92)and(523.08±72.84) μm respectively in the IS/OS absence group and presence group, the difference was not statistically significant (t=2.282, P=0.061). There was no correlation between logMAR BCVA and FT (r=0.200, P=0.929). ConclusionsIn patients with XLRS, the foveomacular schisis involved in multiple retinal layers and most frequently in the INL. The defect of IS/OS is the important reason of the low visual acuity.

Macular retinoschisis and macular retinal detachment without hole in highly myopic eyes

Objective　To evaluate the clinical features of macular retinoschisis (MRS) and macular retinal detachment without hole (MRDH) in highly myopic eyes. Methods　The clinical data of 19 patients (24 eyes) with MRS and MRDH from 186 patients (349 eyes) with high myopia were retrospectively analyzed. All of the patients had undergone the examinations of subjective refraction, binocular indirect ophthalmoscope, slit lamp microscope combined with Goldmann threemirror contact lens, fundus images, A/Bscan ultrasonography, and optical coherence tomography (OCT). Results　In 349 eyes, 24 (6.9％) had MRS and (or) MRDH at the posterior pole. The results of ocualr fundus examinations showed that all of the 24 eyes (100%) had posterior scleral staphyloma (PS), 2 (8.3%) had vitreomacular traction (VMT), 2 (8.3%) had macular local superficial retinal detachment, and 1 (4.2%) had fullthickness macular hole. The results of Bscan ultrasonography also indicated PS in all 24 eyes (100%), macular local superficial retinal detachment in 7 (29.2%) with a bowlike configuration formed by the detached retina and the coneshaped roof of PS, and VMT in 2 (8.3%). The results of OCT revealed macular outerlayer retinoschisis (ORS) in 22 eyes (91.7%) in which 8 (36.4%) also had macular innerlayer retinoschisis (IRS); MRDH in 5 eyes (20.8%) in which ORS was found in 3 (60.0%) and simplex MRDH in 2 (40.0%) including 1 with VMT; VMT in 13 eyes (54.2%); cystoid macular edema (CME) in 3 eyes (12.5%); and lamellar macular hole in 4 eyes (16.7%). Conclusions　MRS and MRDH are common complications in highly myopic eyes with posterior scleral staphyloma.OCT is more sensitive and accurate in detecting MRS and MRDH than routine ophthalmoscopic examination and B-scan ultrasonography.

Molecular genetics and gene therapy of X-linked congenital retinoschisis

X-linked retinoschisis (XLRS) is a rare X-linked inherited retinal disorder, caused by mutations in retinoschisin 1 (RS1) gene. Three XLRS mice were established, providing ideal systems to study the mechanism and treatment methods for XLRS. RS1 gene mutations can induce abnormal secretion or adhesion function of RS1 protein. In the past year, phase I clinical trials for XLRS has begun in USA, using adeno associated virus (AAV, AAV8 or AAV2)-mediated gene delivery. With the rapid development of new generation of AAV vector that can transduce more retinal cells through intravitreous delivery, gene therapy for XLRS will have a brighter future.

Objective quantitative assessment of visual quality with a double-pass instrument for myopic foveoschisis patients

ObjectiveTo objectively quantitative assess the visual quality in patients with myopic foveoschisis (MF) using a double-pass optical quality analysis system (OQASⅡ). MethodsSixty-two subjects participated in this cross-sectional, observational study, who were divided into three groups based on the pathologic conditions including myopic foveoschisis group (MFG), myopic control group (MCG) and normal control group (NCG). Measurements with OQASⅡwere performed for the modulation transfer function cut off frequency (MTF cut-off), the Strehl ratio (SR) and the objective scatter index (OSI). Visual data were analyzed using ANOVA and Pearson's correlation accompanied by logMAR BCVA and axial length (AL). ResultsThe mean values for MTF cut-off, SR and OSI of MFG, MCG and NCG were 18.18±4.81, 0.13±0.03, 3.50±0.44; 22.87±2.66, 0.14±0.02, 2.42±0.29; 33.68±4.70, 0.23±0.02, 1.68±0.20 respectively, and statistical difference were proved except SR between MFG and MCG, or BCVA between MCG and NCG (P < 0.05). LogMAR BCVA and AL have negative correlations to MTF cut-off (r=-0.928, -0.658; P < 0.05) and SR (r=-0.577, -0.893; P < 0.05) with high coefficients in MFG. Log MAR BCVA has negative correlations to MTF cut-off and SR (r=-0.659, -0.806; P < 0.05) in MCG. Log MAR BCVA has negative correlations to MTF cut-off and SR (r=-0.606, -0.602; P < 0.05) and positively correlated to OSI (r=0.561, P < 0.05) in NCG. ConclusionsThe mean value of BCVA, MTF cut-off, SR, OSI of myopic foveoschisis patients were lower than those myopic patients without foveoschisis and normal people. there exists a significant negative correlation between Log MAR BCVA, AL to MTF cut-off and SR. Compared with myopic and normal subjects, myopic foveoschisis have lower BCVA, MTF cut-off, SR but higher OSI.

Comparison of the efficacy of vitrectomy combined with complete internal limiting membrane peeling and fovea-sparing internal limiting membrane peeling for high myopia macular foveoschisis

ObjectiveTo observe and compare the outcomes of vitrectomy (PPV) combined with complete internal limiting membrane (ILM) peeling and fovea-sparing ILM peeling for the high myopic foveoschisis (MF).MethodsA retrospective case study was performed. From June 2016 to June 2018, 31 eyes of 31 patients with high myopic MF diagnosed in Department of Ophthalmology of Central Theater Command General Hospital were included in the study. There were 9 males and 22 females, who were monocular. The mean age was 57.55±9.45 years. All patients underwent BCVA, diopter, spectral domain OCT and axial length measurement. Snellen visual acuity chart was used for BCVA examination, and which was converted into logMAR visual acuity. According to the surgical method, patients were divided into PPV combined with ILM complete removal group (group A) and PPV combined with retained fovea ILM group (group B), which were 16 patients (16 eyes) and 15 patients (15 eyes ), respectively. The mean logMAR BCVA was 1.03±0.33 in group A and 1.11±0.35 in group B. The mean CFT was 596.51±196.69 μm in group A and 578.33±200.18 μm. There were no statistically significant differences in age (t=0.649, P=0.527), AL (t=－0.639, P=0.533), logMAR BCVA (t=－0.368, P=0.718), CFT (t=0.228, P=0.823) and MF type (P=0.576) between the two groups. The mean follow-up time after operation was 18.65±5.15 months. At 7 d, 1, 3, 6 and 12 months after surgery, and at the last follow-up, the same equipment and methods for relevant examinations. The changes of BCVA, CFT, macular hole and other complications were compared between the two groups. Comparison of BCVA and CFT between the two groups before and after operation was performed by paired t test. The count data were compared by using Fisher exact probability method.ResultsAt the last follow-up, MF was completely restored in 27 eyes (87.1%) of 31 eyes, partially restored in 4 eyes (12.9%). The mean logMAR BCVA of group A and Group B was 0.67±0.24 and 0.64±0.21, respectively. The average CFT was 126.25±36.61 μm and 134.27±25.29 μm, respectively. Compared with pre-operation, BCVA was obviously improved in both groups (t=6.630, 9.260; P=0.000, 0.000), CFT was significantly decreased in both groups (t=10.206, 8.799; P=0.000, 0.000). There were no statistically significant differences in logMAR BCVA and CFT between the two groups (t=0.156, －0.924; P=0.878, 0.371). In group A, full-thickness macular hole occurred in 1 eye (6.3%), while no macular hole occurred in group B. There was no significant difference in macular hole incidence between two groups (χ2=0.969, P=0.516). No intraocular hemorrhage, endophthalmitis and other complications occurred during the follow-up period.ConclusionsPPV combined with ILM peeling or fovea-sparing ILM peeling is effective in the treatment of high myopic MF. Both may contribute to improved MF closure rate and BCVA.