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 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).
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 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.
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 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.
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.
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.
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.
