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 efficacy of digital 3D heads-up display viewing system (3D viewing system) and intraoperative OCT (iOCT) in vitrectomy for myopic foveoschisis (MF).MethodsA retrospective, consecutive case series. From October 2018 to May 2019, Nineteen eyes of 19 consecutive patients with MF diagnosed in Xiamen Eye Center of Xiamen University who underwent vitrectomy were included in this study. There were 7 males and 12 females, with the mean age of 54.47±11.38 years. The average axial length was 30.40±2.30 mm, the mean logMAR BCVA was 0.56±0.31, the mean central foveal thickness (CFT) was 317.80±151.9.32 μm, the mean max retinal thickness (maxRT) was 556.7±143.7 μm. All the surgeries performed combined with 3D viewing system with iOCT. The standard 25G pars planar vitrectomy were performed with removing the posterior vitreous and indocyanine green (ICG) staining of internal limiting membrane (ILM) and air-fluid exchange. Thirteen of 19 eyes underwent fovea-sparing ILM peeling and the other 6 eyes not. The average follow-up was 4.2±1.4 months. All the patients were on regular follow-up to document the changes on BCVA, anatomical changes in macula, CFT and maxRT. Paired t test was used to compare BCVA, CFT and maxRT before and after surgery.ResultsThe fine images of macula were clearly shown on the 3D viewing system in all eyes. The electronic green filter enhanced the contrast sensitivity of ICG stained images. Clear images of macula were captured by iOCT in all eyes. The average surgical time was 35.5±8.2 min. On the last follow-up, 16 of 19 eyes with MF resolved. The mean CFT was 178.5±103.5 μm, the maxRT was 341.8±83.8.16 μm, and the mean logMAR BCVA was 0.35±0.22. The differences of CFT, maxRT and logMAR BCVA before and after surgery were statistically significant (t=4.181, 7.154, 5.129; P＜0.001). Minimal invisible full thickness macular hole were detected in 2 eyes by iOCT and repaired with auto serum or ILM flap covering. There was no complication associated with the 3D viewing system.Conclusions3D viewing system provides improved contrast and crystal clear macular image stain with ICG in pathological myopia. iOCT can detect the minimal invisible full thickness macular hole during surgery. Both may contribute to improved MF closure rate and BCVA.
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.
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）
Objective To evaluate the efficacy of vitrectomy with internal limiting membrane（ILM）peeling and perfluoropropane tamponade (C3F8) to treat macular retinoschisis in high myopic eyes.Methods 33 eyes of 31 consecutive high myopia patients with macular retinoschisis were selected randomly; all had posterior staphyloma without retinal detachment. The preoperative refractive errors ranged from －9.5D to －21.0 D with the mean of －(13.1plusmn;3.6) D. The preoperative axial lengths ranged form 26 mm to 32 mm with the mean of (28.3plusmn;2.1) mm. Conventional 20G vitrectomy was performed with ILM peeling and 10% C3F8 infusion, ILM was labeled by Triamcinolone (TA). The best corrected visual acuity (BCVA) and macular structural changes were observed before the surgery, and at 1, 2, 3, 4, 8 months after the surgery. Results Beginning from 1 month after surgery all patients had significant improvement of the macular retinoschisis and BCVA. The macular structure changed very slightly along with the time. The foveal thickness were (327.6plusmn;51.7),(165.2plusmn;22.6),(159.3plusmn;28.7),(167.7plusmn;17.1),(142.7plusmn;13.8) and (169.1plusmn;19.6) mu;m respectively before surgery and 1, 2, 3, 4, 8 months after surgery. The mean foveal thickness was reduced significantly at 18 months followup compared with the preoperational result (t=9.21，9.23，9.21，10.67，9.21; Plt;0.05). The foveal thickness had no significant change at each timepoint after surgery.From 4 months after surgery, recurrence of macular retionoschisis was found in 3 eyes (9.1%).Conclusion Vitrectomy with ILM peeling and C3F8 tamponade is useful to treat macular retinoschisis in high myopic eyes.
ObjectiveTo observe the correlation between posterior myopic retinoschisis(MRS) and posterior scleral staphyma (PS) in pathological myopia (PM), and to preliminarily explore the influencing factors of MRS.MethodsA retrospective case series study. From November 2016 to November 2019, 38 patients with PM with MRS diagnosed in Henan Eye Hospital & Henan Eye Institute from were included in the study. There were 10 males and 28 females; 13 patients were binocular and 25 patients were monocular. The average age was (49±13) years old. BCVA, retinoscopy optometry, frequency domain OCT, three-dimensional magnetic resonance imaging (3D-MRI) examination and axial length (AL) measurement were performed. According to the frequency domain OCT inspection results, MRS was divided into inner splitting, outer splitting and mixed splitting; based on the 3D-MRI scan results, PS was divided into broad macula, narrow macula,discoid, nasal, subdisc and other types. The correlation between MRS and PS was tested by χ2 test or Fisher exact test.ResultsAmong 60 eyes, 58 eyes (96.77%) of MRS combined with PS. Among them, the wide macula, narrow macula, discoid, nasal, subdisc, and other types were 30 (51.72%), 19 (32.75%), 1 (1.72%), 2 (3.48%), 2 (3.48%) and 4 (6.85%) eyes; inner split, outer split, and mixed split were 10 (17.24%), 24 (41.38%), 24 (41.38%) eyes. Of the 19 eyes with narrow macular PS, MRS involved the fovea in 16 eyes; of the 39 eyes with PS of other forms, MRS involved the fovea in 22 eyes. There was a statistically significant difference between the narrow macular type and other types involving foveal eyes (P=0.044). The correlation between MRS involving the fovea and narrow macular PS was moderate (Cramer's V=0.275). The ages of patients with inner split, outer split, and mixed split were 44±12, 56±10, and 44±13 years, respectively. Patients with inner splitting were younger than those with outer splitting, and those with outer splitting were older than those with inner splitting and mixed splitting. The differences were statistically significant (P=0.010, 0.010, 0.060).ConclusionPM with MRS mostly occur in PS-affected eyes, and mainly macular PS (wide macula, narrow macula).
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.
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.
Pathological myopic macular retinoschisis can be classified into 4 types based on optical coherence tomography (OCT) images: outer layer retinoschisis, outer + middle layer retinoschisis, outer + inner layer retinoschisis and multilayer retinoschisis. Currently vitrectomy is the major option to treat this condition as it can remove the posterior vitreous cortex completely and peel the internal limiting membrane (ILM) around the posterior vessels arch. Vitrectomy benefits the visual function significantly for outer layer retinoschisis with foveal detachment, but has no or very little effects on multilayer retinoschisis. The appropriate starting site for removal of posterior cortex and ILM should be the site without inner layer retinoschisis. The knowledge and understanding of the OCT classification of pathological myopic macular retinoschisis is important for us to chose correct operation methods and determine the prognosis after treatment.
X-linked juvenile retinoschisis (XLRS) is a rare X-linked inherited retinal disorder, mainly affects bilateral retina. Patients often present with visual deterioration accompanied by a spoke-wheel pattern in the macula due to splitting of inner retinal layers and a disproportionate decline in the b-wave relative to a-wave of electroretinogram. The current therapy is mainly directed toward treatment of complications with no effective clinical management yet. In recent years, with the deepening understanding of XLRS, adeno-associated virus(AAV)-mediated gene therapy has become a potential new approach for the treatment. Two clinical trials on XLRS gene therapy are currently underway. These two clinical trials assess the ocular safety and tolerability of recombinant AAV-RS1 vector and explore its safe dose in XLRS patients. However, the recovery of retinal structure and function in XLRS patients is unsatisfactory. Following the in-depth research and progress of clinical trials, it is expected that more accurate and effective treatments for XLRS patients will be provided in the future.