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 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.
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.
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.
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 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 study the characteristics of the genotype and phenotypic in a family with X-linked retinoschisis (XLRS) due to RS1 mutation. MethodsA retrospective clinical study. An XLRS family of 4 generations of 26 people were included in the study. Among them, 8 participants were males and 7 participants were females. Routine ophthalmologic examination was performed on 3 patients in the family including the proband and 12 patients with normal phenotype. Optical coherence tomography was performed in 2 of the 3 patients. Peripheral venous blood was extracted from all participants, whole-genome DNA was extracted, and potential pathogenic genes were screened by Panel sequencing. Conservative analysis, pathogenicity analysis and protein structure prediction were carried out by software tools. The pathogenicity of gene mutations was analyzed according to the American Society of Medical Genetics and Genomics (ACMG) guidelines. ResultsThe proband was 3 years old. Optical coherence tomography (OCT) examination showed that the retinal core layer in the macular area of both eyes had a cystic change, which was segmented by vertical or oblique bridging tissue. The proband's uncle was 32 years old. OCT examination showed atrophy in the macular area of the left eye. The macular area of the right eye was cystoid, segmented by vertical or oblique bridging tissue. No abnormality was found in the fundus examination of the proband's parents and 10 members of his family. Panel sequencing showed that c.361C>T/ p.Q121X hemizygous mutation was found in the fifth exon of RS1 gene in the proband (Ⅳ3) and 2 patients (Ⅱ1, Ⅲ8). The mother was a heterozygous mutation carrier of the gene, while the father had no mutation. The mutant gene causes premature termination of RS1, a truncated protein encoding 224 amino acids to 120 amino acids. Of the 10 patients with normal fundus examination, 6 participants were normal. The mutation was carried by four people, which were women. Homology analysis of the protein sequence showed that the mutant site was highly conserved in 12 mammals. Three-dimensional structural analysis of RS1 protein showed that the c-terminal amino acid sequence of the mutant protein was more than 50% missing. Analysis of ACMG guidelines indicated that the mutation was pathogenic. ConclusionThe RS1 mutation site c.361C>T/p.Q121X is a new mutation site of XLRS.
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 the imaging features of extramacular retinoschisis (EMRS) and paravascular abnormalities (PVA) in myopic patients, and preliminary analyze the differences in age, best corrected visual acuity (BCVA), spherical equivalent (SE), axial length (AL), and subfoveal choroidal thickness (SFCT). MethodsA cross-sectional clinical study. A total of 60 myopia patients with EMRS who were admitted to Department of Ophthalmology of The First Affiliated Hospital of Zhengzhou University from January 2023 to June 2024 were included in the study. There were 18 male cases with 18 eyes and 42 female cases with 42 eyes. Age was (37.57±17.14) years; SE was (−10.76±4.66) D; AL was (28.36±1.87) mm. According to the characteristics of ultra-wide-angle optical coherence tomography images, PVA was divided into perivascular cysts (PC), perivascular microfolds (PM) and perivascular lamellar holes (PLH). According to the splitting level, EMRS can be divided into inner layer, middle layer and outer layer. According to SE, the affected eyes were divided into low myopia group, moderate myopia group and high myopia group. The occurrence of EMRS near optic disc, supratemporal, suprasal and subnasal, as well as the clinical characteristics of patients with EMRS at different locations, levels and forms of PVA were observed. Age, BCVA, SE, AL and SFCT of EMRS patients at different locations and levels were compared by independent sample t test. χ2 test or Fisher exact probability test were used to compare the categorical variables between groups. ResultsIn 60 eyes, EMRS were located in supratemporal, infratemporal, supranasal, subnasal, and paratopic discs in 36, 43, 15, 13, and 14 eyes, respectively. The EMRS in the inner and outer layers were 59 (98.3%, 59/60) and 35 (58.3%, 35/60) eyes, respectively. PVA was present in 47 eyes (78.3%, 47/60). Among them, PC, PM and PLH were 45, 39 and 18 eyes, respectively. The age of those with paratopic splitting was older than those without paratopic splitting (t=2.720). Those with temporal splitting had worse BCVA and longer AL than those without splitting (t=2.139, 2.119). Those with subnasal splitting had worse BCVA, higher myopia, longer AL and thinner SFCT than those without splitting. The differences were statistically significant (t=2.926, −2.640, 2.635, −3.938; P＜0.05). Compared with other types of EMRS, patients with inner EMRS had younger age (t=−2.383), better BCVA (t=−4.825), shorter AL (t=−4.767), lower myopia (t=4.791), and thicker SFCT (t=4.791); patients with full-layer EMRS were older (t=2.419), worse BCVA (t=3.656), longer AL (t=2.677), higher degree of myopia (t=−2.755), and thinner SFCT (t=−3.283), with statistical significance (P＜0.05). There was significant difference in SFCT among patients with or without PC (t=−2.396, P＜0.05). Compared with eyes without PM and PLH, eyes with PM had worse BCVA, longer AL, higher myopia, and thinner SFCT, and the differences were statistically significant (PM: t=2.514, 3.078, −2.811, −4.205; P＜0.05; PLH: t=2.514, 2.992, −2.949, −1.773; P＜0.05). ConclusionsEMRS primarily occurs in the temporal side, with the highest frequency in the inner layer. Patients with inner-layer EMRS are younger, have better BCVA, shorter AL, lower myopia, and thicker SFCT, whereas patients with full-layer EMRS exhibit the opposite characteristics.
Objective To observe and analyze the imaging features of pathologic myopic paravascular abnormalities (PVA) and macular retinoschisis (MRS) and their relationship with clinical features. MethodsA retrospective case series study. A total of 371 eyes of 224 patients with pathological myopia with PVA and/or MRS diagnosed by examination in Department of Ophthalmology of the First Affiliated Hospital of Zhengzhou University from September 2021 to December 2023 were included in the study. There were 74 eyes in 48 males and 297 eyes in 176 females. Age were 54 (49, 61) years; equivalent spherical lens (SE) was −13.375 (−18.00, −10.00) D. Axial length (AL) was 29.84 (28.27, 31.24) mm. According to the features of ultra-wide-angle sweep source optical coherence tomography, PVA morphology was divided into blood vessels and paravascular microfolds, paravascular retinal cysts, paravascular retinal splits and paravascular lamellar macular holes. MRS was divided into inner layer, outer layer and mixed layer according to splitting level, and grouped accordingly. The presence of dome-shaped macula (DSM), internal and external lamellar macular hole, and full lamellar macular hole (FTMH) were recorded. According to whether PVA combined with MRS or not, the affected eyes were divided into PVA group and PVA combined with MRS group. According to whether MRS involved the fovea, the affected eyes were divided into two groups: MRS not involved the fovea group and MRS involved the fovea group. Mann-Whitney U test was used to compare age, SE and AL among different groups. Qualitative data were compared by χ2 test. ResultsIn 371 eyes, there were 120 eyes in the simple PVA group; in the MRS group, there were 251 eyes, of which 208 eyes were in the PVA combined with MRS group. There were 33, 27, 3, 14, 12, 56, 28, and 7 eyes with or without retinal detachment, choroidal neovascularization, DSM, preretinal membrane, and simple superficial detachment of neuroepithelium in inner lamina, outer lamina, and FTMH, respectively. In 328 eyes with PVA, blood vessels and paravascular microfolds, paravascular retinal cysts, paravascular retinal splits and paravascular lamellar macular holes were 151, 236, 202 and 72 eyes, respectively. There were 142 eyes with single lesion (43.29%, 142/328). There were 186 eyes with 2 or more lesions (56.71%, 186/328). There were 34 eyes in the inner MRS group, 92 eyes in the outer MRS group and 125 eyes in the mixed MRS group, respectively. It involved 155 eyes in the fovea group; 96 eyes in the fovea group were not involved. There were significant differences in the number of PVA eyes between the outer MRS group, the inner MRS group and the mixed MRS group (χ2=30.614, 28.379; P＜0.001). Compared with PVA group, PVA group combined with MRS group was more likely to have two or more PVA lesions, the difference was statistically significant (χ2=30.535, P＜0.001). Compared with the inner MRS group and mixed MRS group, the age of the simple PVA group was younger, and the age of the outer MRS group was older, and the differences were statistically significant (P＜0.05). Compared with the inner MRS group and the outer MRS group, the simple PVA group had short AL, less myopia and better optimal corrected visual acuity (BCVA), while the mixed MRS group had long AL, more myopia and worse BCVA, and the differences were statistically significant (P＜0.05). Compared with the PVA group and the inner MRS group, the fovea was more involved in the outer MRS group and the mixed MRS group, and the difference was statistically significant (χ2=3.906, 10.836; P＜0.05). Those with MRS involved in fovea were older, AL was longer, myopia was more severe, and BCVA was worse (P＜0.001). DSM-associated splits were less likely to involve macula (P＜0.001). ConclusionPVA and MRS exhibit a variety of presentations, and their imaging features correlate with clinical features.