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）
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 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.
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.
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 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.
Myopic traction maculopathy (MTM) is one of the most common macular degeneration in highly myopic eyes, which is the main cause of visual impairment. MTM is a slowly progressing disease. Macular retinoschisis (MRS), macular detachment and macular hole are the three main manifestations of MTM. Under the combined action of various traction mechanisms, MTM may manifest as stable anatomical structure, progressing or spontaneous improvement. The possibility of spontaneous improvement of MTM is small and the degree of improvement of BCVA varies, while the risk of deterioration of MTM increases with its development. Attention should be paid to patient follow-up and timely surgical treatment to prevent MTM from further threatening the patients’ vision in clinically.
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 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.
Objective To observe the the clinical characteristics of images of optic coherence tomography (OCT) in highly myopic eyes with retinoschisis. Methods The clincial data of 158 patients (158 eyes) with high myopia diagnosed by examinations of best corrected visual acuity and refraction, indirect stereoscopic ophthalmoloscopy, A/Bscan ultrasonography, and OCT, were retrospectively analyzed. The patients were divided into retinoschisis group and nonretinoschisis group according to the results of OCT (whether the patients had macular reinoschisis at the posterior pole). There were 53 patients (55 eyes, 34.8%) in the former group, and 101 patients (103 eyes, 65.2%) in the latter group. The age, sex, diopter, visual acuity, ocular axial length, and incidence of posterior scleral staphyloma, vitreous traction, and retinal detachment of the two groups were compared. Results B-scan ultrasonography showed posterior scleral staphloma in all of the 158 eyes. OCT indicated that in the 55 eyes in the retinnoschisis group, 15 （27.3%） had inner, 53 （96.4%）had outer, and 7 （12.7%）had middle retinoschisis. The inner and outer one could exist independently or in the same eye, while the middle one was always accompanied by the outer retinoschisis. Two or more types of schisis coexisted in 13 eyes （23.6%）, single outer retinoschisis was found in 40 eyes （72.7%）, and single inner retinoschisis was found in 2 eyes （3.6%）. There were 26 eyes（47.3%）were accompanied with retinal detachment, 13 eyes（23.6%） with macular hole, and 12 eyes （21.8%）with vitreous traction. In the 103 eyes in the nonretinoschisis group， 23 eyes （22.3%）had vitreous traction, 19 eyes （18.4%） had macular hole, and 21 eyes （20.4%）had retinal detachment. The differences of age, diopter and ocular axial length, sex, incidence of macular hole and vitreous traction between the two groups were not statistically significant (Pgt;005）. The visual acuity in retinoschisis group was much lower than that in the nonretinoschisis group （Plt;005）, and the difference of incidence of the retinal detachment between the two groups was significant (Plt;001). 〖WTHZ〗Conclusion 〖WTBZ〗Macular retinoschisis in eyes with high myopia can exist in inner or middle retina, but most of them locate at outer retina.The patients always have poor visual acuity and are often accompanied by other macular lesions such as retinal detachment.