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.
ObjectiveTo observe the clinical effects of pars plana vitrectomy (PPV) combined with internal limiting membrane peeling (ILMP) for macular hole (MH) and macular retinoschisis in high myopic eyes, and to analyze factors affecting the MH closure rate.MethodsThis is a retrospective case study. 21 high myopic patients (22 eyes) with MH and macular retinoschisis were enrolled in this study. All eyes were examined for best corrected visual acuity (BCVA), intraocular pressure, slit lamp microscope, indirect ophthalmoscope, A and/or B-scan ultrasound, optical coherence tomography and visual electrophysiological examination. The BCVA was ranged from finger counting to 0.2. The axial length (AL) was ranged from 26.00 to 31.00 mm, with an average of 27.47 mm. Among 22 eyes, AL was between 26.00 mm to 27.00 mm in 9 eyes, 27.10 mm to 28.00 mm in 5 eyes, 28.10 mm to 29.00 mm in 3 eyes, 29.10 mm to 30.00 mm in 3 eyes, and longer than 30.00 mm in 2 eyes. The diameter of MH was ranged from 227 µm to 597 µm and with an average of 432 µm. Among them, the minimum diameter was between 200 µm to 400 µm in 4 eyes, 401 µm to 450 µm in 13 eyes, 451 µm to 500 µm in 3 eyes, 501 µm to 600 µm in 2 eyes. All the eyes were treated with PPV combined with ILMP surgery. The average follow-up time was 17 months after surgery. The efficacy was determined at the final follow up, including the MH closure, the state of macular retinoschisis and the BCVA. MH closure rate with different MH diameters and different AL were compared and analyzed.ResultsDuring the final follow-up, MH were fully closed in 17 eyes (77.3%), bridge-closed in 4 eyes (18.2%) and not closed in 1 eye (4.5%). Retinoschisis was resolved in 19 eyes (86.4%), partially resolved in 2 eyes (9.1%) and not changed in 1 eye (4.4%). MH with smaller diameter had higher MH closure rate (χ2=12.036, P=0.032). MH with longer AL had lower MH closure rate (χ2=16.095, P=0.003).The final BCVA was ranged from finger counting to 0.25. Among 22 eyes, BCVA or metamorphopsia were improved in 9 eyes (40.9%), stable in 8 eyes (36.4%). BCVA was reduced and metamorphopsia was more severe in 5 eyes (22.7%).ConclusionsPPV combined with ILMP is a safe and effective surgical treatment for MH (with minimum diameter ≤600 μm) and macular retinoschisis in high myopic eyes. After surgery, MH was closed and retinoschisis was resolved in most patients. The major factors affect the MH closure were the minimum diameter of MH and AL.
ObjectiveTo observe the long-term clinical effect of pars plana vitrectomy combined with fovea-sparing internal limiting peeling in the treatment of macular foveoschisis in pathologic myopic.MethodsA prospective case series study. Fifteen patients (15 eyes) with pathological myopic macular foveoschisis who received treatment in Eye Hospital of Wenzhou Medical University from December 2015 to December 2016 were enrolled. There were 4 males (4 eyes) and 11 females (11eyes), with an average age of 55.33±8.34 years. All patients underwent BCVA, diopter, spectral domain OCT and axial length measurement. The mean logMAR BCVA was 0.95±0.64. The mean central fovea thickness (CFT) was 576.00±185.32 μm. All patients underwent vitrectomy combined with fovea-sparing internal limiting peeling. After gas-liquid exchange, 12% C3F8 was filled and followed up at 1, 3, 6 and 12 months after surgery. Follow-up time was more than 12 months. The structural changes of BCVA and macular area were observed.ResultsThe foveal internal limiting membranes was successfully preserved in all eyes using the techinique. At the final follow-up, the CFT was 258.60±175.22 μm and the BCVA was 0.46±0.43, which were significantly improved compared with preoperative measurements (t=4.90, 5.20; P＜0.001). Macular foveoschisis was resovled in 13 eyes. BCVA increased in 14 eyes. Internal limiting membranes proliferation and contraction occurred in 5 eyes and full-thickness macular hole occurred in 1 eye.ConclusionsPars plana vitrectomy with fovea-sparing internal limiting peeling is effective in the treatment of myopic macular retinoschisis. It can improve BCVA and CFT.
ObjectiveTo evaluate the efficacy of vitrectomy with internal limiting membrane peeling without intraocular tamponade in the treatment of myopic foveoschisis. MethodsTwenty-three eyes of 23 patients with myopic foveoschisis underwent vitreoretinal surgery were analyzed retrospectively. All the patients had undergone the examinations of best corrected visual acuity (BCVA), intraocular pressure, slit lamp microscope, direct ophthalmoscope, A or B ultrasonic scan and optical coherence tomography(OCT).The mean BCVA was 0.02-0.4, mean diopter was (-14.1±3.8) D, mean axial length was (28.8±1.5) mm, mean central fovea thickness (CFT) was (573.2±142.8) μm. A standard 3-port pars plana vitrectomy (25-gauge system) was performed in all patients. There was no tamponade at the end of the operation. The follow-up varied from 6 to 28 months. The visual acuity, CFT, retinal reattachment and the complications were observed. ResultsAt the latest follow up, there were 16 eyes (69.6%) were anatomically reattached, 4 eyes (17.4%) were partly anatomically reattached, 3 eyes (13.0%) were not reattached. Postoperative BCVA improved in 22 eyes (52.2%), unchanged in 9 eyes (39.1%), and decreased in 2 eyes (8.7%). No ocular complications such as macular hole, fundus hemorrhage, low or high intraocular pressure, endophthalmitis were found. ConclusionVitrectomy with internal limiting membrane peeling without gas tamponade can effectively treat myopic foveoschisis without ocular complications.
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.
ObjectiveTo evaluate the outcomes of laser photocoagulation of congenital X-linked retinoschisis (XLRS) at progressive stage. MethodsTwenty-seven cases (36 eyes) of XLRS sick kids were enrolled in this study. All patients were followed up for more than 1 year, retinoschisis has developed slowly but complications occurred during the follow-up. They are all boys from 3 to 12 years old; the average age was 6.47 years old. There were 18 unilateral cases, 9 bilateral cases. The affected eyes were randomly divided into treatment group and control group (n=18 eyes). The treatment group eyes received multi-wavelength krypton yellow laser photocoagulation around the retinoschisis, but no laser spots were laid in a optic-disk area surrounding the macular and optic disc. Children in the control group were followed up every six months without treatment. Both groups of children were followed up for 3 years. The best corrected visual acuity (BCVA, logMAR), complications (vitreous hemorrhage, retinal detachment) were measured at the last follow up. ResultsAt the last follow-up, the treatment group mean logMAR BCVA was 0.73±0.41, which is the same as pre-treatment BCVA (t=1.187, P=0.201). The control group mean logMAR BCVA 0.88 ±0.60, which is the same as pre-treatment BCVA (t=-2.093, P=0.033). The changes of the BCVA in these two groups was statistically different (t=-2.093, P=0.033). For the treated 18 eyes, visual acuity improved in four eyes (22.2%); not changed in 10 eyes (55.6%) and decreased in four eyes (22.2%). For the 18 eyes in the control group, visual acuity improved in three eyes (16.7%); not changed in four eyes (22.2%) and decreased in 11 eyes (61.1%). The vision reduction rate in treatment group was statistically less than the control group (χ2=5.600, P<0.01). There were 2 eyes (11.1%) and 7 eyes (38.9%) with serious complications in the treated and control eyes respectively. The complication rate treatment group was statistically less than the control group (χ2=3.710,P<0.05). ConclusionLaser photocoagulation can stabilize or improve vision of advanced XLRS patients, and prevent the occurrence of serious complications.
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.
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 threemirror contact lens, fundus images, A/Bscan 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 fullthickness macular hole. The results of Bscan ultrasonography also indicated PS in all 24 eyes (100%), macular local superficial retinal detachment in 7 (29.2%) with a bowlike configuration formed by the detached retina and the coneshaped roof of PS, and VMT in 2 (8.3%). The results of OCT revealed macular outerlayer retinoschisis (ORS) in 22 eyes (91.7%) in which 8 (36.4%) also had macular innerlayer 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.