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.
Objective To observe the ef?cacy 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 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.
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.
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.
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.
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 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.
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）
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.