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 imaging features of optical coherence tomography (OCT) in peripheral retinal abnormalities of high myopia (HM). MethodsA retrospective series of case studies were conducted. From March 2019 to March 2021, 38 cases (50 eyes) in high myopia with peripheral retinal abnormalities who were confirmed to Henan Eye Hospital were enrolled in the study. There were 21 eyes in 17 males and 29 eyes in 21 females, age was 39.58±15.29 years, diopter was (－9.10±2.44) D. All patients underwent wide-angle fundus photography and OCT examination. According to wide-angle fundus photography and OCT, HM with peripheral retinal abnormalities were classified into white-without-pressure, black-without-pressure, lattice degeneration, peripheral pigmented degeneration, retinoschisis and retinal holes. OCT imaging features of peripheral abnormalities in high myopia was observed. ResultsIn 50 eyes, 65 peripheral retinal abnormalities were observed by OCT. In 6 white-without-pressure, intense hyperreflectivity was shown at the level of the ellipsoid zone that abruptly transitions to relative hyporeflectivity at the dark border of the lesion. In 16 black-without-pressure, reflectivity of the ellipsoid zone decreased. In 10 sites of lattice degeneration, cystoid degeneration, local thinning, retinal tear at the posterior edge and boundary of the lesion was shown, whcih may be accompanied by local vitreous condensation and traction. In 4 peripheral pigmented degeneration, retinal interlayer hyperreflectivity was shown. In 12 retinoschisis, neuroepith-elial separation was connected by vertical bridge or columnar light bands, of which 3 were accompanied with localized retinal detachment and 2 with splitting-related retinal vascular abnormalities. In 17 retinal holes, full layer of neuroepithelium lost, that 12 zones were accompanied with retinal detachment with vitreous adhesion or traction. ConclusionOCT manifestations of peripheral retinal abnormalities in HM varies.
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 observe the efficacy of pars plana vitrectomy with internal limiting membrane (ILM) peeling and gas tamponade in the treatment of myopic macular retinoschisis (MF). Methods This is a retrospective case study. A total of 35 MF patients (36 eyes) were enrolled in this study. There were 5 males (5 eyes) and 30 females (31 eyes), with an average age of (60.13±10.00) years. All patients were examined for best corrected visual acuity (BCVA), diopter, optical coherence tomography (OCT) and axial length. The patients were divided into a MF group (group A, 10 eyes), MF with foveal detachment group (group B, 12 eyes) and MF with lamellar macular hole group (group C, 14 eyes) according to the OCT characteristics. There was no difference of age, gender, spherical equivalent refraction and axial length among 3 groups (F=0.020, 0.624, 0.009, 0.195; P＞0.05). There were significant differences of the minimum resolution angle logarithm (logMAR) BCVA and central fovea thickness (CFT) (F=11.100, 41.790; P＜0.05). All patients underwent pars plana vitrectomy with ILM peeling and gas tamponade. The follow-up was more than one year. The BCVA and macular structure at the final follow-up were analyzed. The efficacy between 3 forms of MF was compared. Results At the final follow-up, the BCVA was 0.40±0.44 and CFT was (213.35±97.58) μm, which were significantly improved compared with preoperative measurements (t=5.984, 5.113; P＜0.001). MF was resolved in 33 eyes. In group A, B and C, the logMAR BCVA were 0.13±0.10, 0.73±0.33 and 0.38±0.52, respectively; CFT was (222.40±57.16), (212.50±150.45), (206.67±55.97) μm, respectively; MF was resolved in 10, 11 and 12 eyes, respectively; complete ellipsoid was observe in 8, 2 and 12 eyes. The logMAR BCVA (F=6.750, P=0.003) and the rate of complete ellipsoid (χ2=18.590, P＜0.001) in group B was lower than group A and C, the differences were significant. There was no difference of CFT (F=0.068, P=0.935) and the rate of MF resolving (χ2=1.558, P=0.459) among the three groups. One eye (1/14) in group C suffered from full layer macular hole. Conclusion Pars plana vitrectomy with ILM peeling and gas tamponade is effective in the treatment of myopic macular retinoschisis. The macular structures and BCVA are worst in eyes with foveal detachment.
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.
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 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 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 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.
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.