OBJECTIVE: To explore the genetic basis for a Chinese pedigree affected with X-linked retinoschisis. METHODS: Clinical data of the pedigree was collected. Following DNA extraction, PCR and Sanger sequencing were carried out to detect potential variant in the RS1 gene. The result was verified by using PCR and restriction fragment length polymorphism assay. RESULTS: All male patients were found to harbor a c.458T>G (p.Val153Gly) variant of the RS1 gene, for which Their mothers were heterozygous carriers. The same variant was not detected among unaffected members of the pedigree as well as 100 healthy controls. Bioinformatic analysis suggested the variant to be pathogenic. CONCLUSION The c.458T>G (p.Val153Gly) variant of the RS1 gene probably underlay the X-linked retinoschisis in this pedigree.
China ; Eye Proteins/genetics* ; Genes, X-Linked ; Humans ; Male ; Mutation ; Pedigree ; Retinoschisis/pathology*

PURPOSE: We investigated the long-term outcomes of vitrectomy with internal limiting membrane (ILM) peeling as treatment for myopic traction maculopathy (MTM).METHODS: The medical records of patients who underwent vitrectomy to treat MTM were retrospectively evaluated. We excluded patients who exhibited macular holes (MHs) or retinal detachment at the time of primary surgery. The best-corrected visual acuity (BCVA) and central foveal thickness (CFT) were analyzed preoperatively, at 3, 6, 12, and 24 months after surgery, and at the final visit. Complications including retinal detachment or an MH were noted during follow-up.RESULTS: Twenty-three eyes of 22 patients were enrolled. At the time of primary surgery, the mean patient age was 64.4 ± 11.1 years and the baseline mean logMAR BCVA and CFT, 0.67 ± 0.50 and 431.8 ± 159.5 µm, respectively. The mean follow-up period was 53.7 ± 19.3 months. The mean logMAR BCVAs at 3, 6, 12, and 24 months postoperatively and at the final visit were 0.42 ± 0.39 (p = 0.001), 0.41 ± 0.38 (p = 0.001), 0.39 ± 0.40 (p < 0.001), 0.42 ± 0.43 (p < 0.001), and 0.51 ± 0.47 (p = 0.016), respectively, thus significantly better than the baseline value. The mean CFT at 3, 6, 12, and 24 months postoperatively and at the final visit were 244.6 ± 72.3, 210.5 ± 79.1, 209.6 ± 91.6, 219.8 ± 93.9, and 217.7 ± 81.3 µm, respectively, thus significantly less than baseline (all p < 0.001). MTM resolved in 18 eyes (78.3%) after primary surgery, without any complication, and remained stable to the final visit.CONCLUSIONS: Vitrectomy with ILM peeling afforded favorable long-term efficacy and safety in MTM patients.
Follow-Up Studies ; Humans ; Medical Records ; Membranes ; Myopia, Degenerative ; Prognosis ; Retinal Detachment ; Retinal Perforations ; Retinoschisis ; Retrospective Studies ; Traction ; Visual Acuity ; Vitrectomy

PURPOSE: To evaluate the long-term outcomes of optic disc pit maculopathy after vitrectomy. METHODS: We evaluated retrospectively the medical records of eight patients with macular retinal detachment or retinoschisis who underwent vitrectomy due to optic disc pit maculopathy. The best-corrected visual acuity and optical coherence tomography findings were analyzed after surgery. RESULTS: Eight eyes of eight patients (two male and six female) were enrolled. The mean best-corrected visual acuity was 0.76 log MAR, the mean age was 42.8, and the mean follow-up period was 56 months (range: 8–120 months). At baseline, retinoschisis was observed in all eight eyes. Six eyes had serous retinal detachment of the macula. Vitrectomy for a complete posterior vitreous detachment was performed. Additional internal limiting membrane peeling and tamponade were performed in six and four eyes, respectively. After surgery, serous retinal detachment was gone in all eyes (100%) at a mean of 22.8 months (range: 18 days–60 months). Three of eight eyes (37.5%) showed the disappearance of retinoschisis at a mean of 6.8 months (range: 1.7–21 months), but the remaining patients still had retinoschisis at the final visit. Ocular complications were full-thickness macular hole and iatrogenic retinal detachment in each case. The final corrected visual acuity improved to 0.29 logMAR. CONCLUSIONS: Vitrectomy is an effective treatment for patients with optic disc pit maculopathy. It achieved anatomical and visual improvements over a long period of time. However, retinoschisis due to inner retinal fluid remained in many patients.
Follow-Up Studies ; Humans ; Male ; Medical Records ; Membranes ; Retinal Detachment ; Retinal Perforations ; Retinaldehyde ; Retinoschisis ; Retrospective Studies ; Tomography, Optical Coherence ; Visual Acuity ; Vitrectomy ; Vitreous Detachment

No abstract available.
Humans ; Retinoschisis*

PURPOSE: To present differences in visual acuity and macular structure before and after surgery in patients with idiopathic epiretinal membrane (ERM) according to the presence of retinoschisis. METHODS: This retrospective observational study included 324 eyes with idiopathic ERM, that underwent pars plana vitrectomy with ERM and internal limiting membrane peeling, and were followed for more than 6 months. Subjects were classified into two groups according to the presence of retinoschisis using preoperative optical coherence tomography (OCT; group 1, ERM with retinoschisis; group 2, ERM without retinoschisis). Preoperative and postoperative macular structure changes and surgical outcomes were compared. RESULTS: Group 1 included 61 eyes, and group 2 included 263 eyes. Group 1 had a significantly higher preoperative and final postoperative best-corrected visual acuity compared with group 2 (p = 0.01, p = 0.02). Preoperative disorganization of retinal inner layers (DRIL) was significantly less in group 1 than group 2 (p = 0.01). Preoperative central macular thickness was not significantly different between the two groups. However, postoperative central macular thickness was significantly lower in group 1 than group 2 (p = 0.02, p = 0.01, p < 0.01). The ratio of the inner or outer layer in the total retinal thickness before surgery was significantly smaller in group 1 than in group 2 (p = 0.02, p = 0.04). CONCLUSIONS: Preoperative visual acuity was better and the occurrence of DRIL was less in idiopathic ERM with retinoschisis than without retinoschisis. Postoperative visual and structural outcome was better in idiopathic ERM with retinoschisis than without retinoschisis. Retinoschisis may have played a role in reducing the tractional force given to the inner and outer retina.
Epiretinal Membrane ; Humans ; Membranes ; Observational Study ; Retina ; Retinaldehyde ; Retinoschisis ; Retrospective Studies ; Tomography, Optical Coherence ; Traction ; Visual Acuity ; Vitrectomy

PURPOSE: To report a case of central serous chorioretinopathy with peripapillary retinoschisis. CASE SUMMARY: A 64-year-old male presented with abnormal color vision of the left eye, which occurred 6 months prior to his visit. At the initial visit, a funduscopic examination revealed retinal elevation with suspected serous retinal detachment around the optic disc in the left eye. Spectral domain optical coherence tomography showed subretinal fluid on the nasal side of the optic disc and retinoschisis on the temporal side of the optic disc in the left eye. Fluorescein angiography revealed multiple leakages in the left eye. Indocyanine green angiography revealed choroidal vascular hyperpermeability in both eyes. Based on these results, the patient was diagnosed with chronic central serous chorioretinopathy and was treated with argon laser photocoagulation at the leakage points. After 8 weeks of laser therapy, optical coherence tomography indicated that there was no retinoschisis or subretinal fluid in the macula, nasal, or temporal sides of the optic disc. CONCLUSIONS: Peripapillary retinoschisis due to central serous chorioretinopathy improves with argon laser photocoagulation at leakage sites.
Angiography ; Argon ; Central Serous Chorioretinopathy ; Choroid ; Color Vision ; Fluorescein Angiography ; Humans ; Indocyanine Green ; Laser Therapy ; Light Coagulation ; Male ; Middle Aged ; Retinal Detachment ; Retinaldehyde ; Retinoschisis ; Subretinal Fluid ; Tomography, Optical Coherence

X-linked juvenile retinoschisis (XLRS) is characterized by the progressive loss of visual acuity and vitreous hemorrhage. XLRS is caused by a mutation of retinoschisin 1 (RS1) gene at Xp22.13. In the current report, a 2-year-old Korean patient with XLRS was described. The germline deletion of exon 1 was identified in the RS1 gene. Considering X-linked inheritance pattern, validation of a carrier state of a patient's mother is important for the genetic counseling of other family members and for the future reproductive plan. To confirm the carrier state of his mother, the multiplex ligation-dependent probe amplification analysis was done using peripheral leukocytes and found the heterozygous deletion of exon 1 in his mother.
Carrier State ; Child, Preschool ; Exons ; Genes, X-Linked ; Genetic Counseling ; Humans ; Leukocytes ; Mothers ; Multiplex Polymerase Chain Reaction ; Retinoschisis* ; Visual Acuity ; Vitreous Hemorrhage

PURPOSE: To investigate the characteristics of non-glaucomatous eyes with peripapillary retinoschisis. METHODS: Six non-glaucomatous eyes with peripapillary retinoschisis were enrolled. Age, sex, refractive error, intraocular pressure, location and changes of peripapillary retinoschisis, and the presence of accompanied abnormalities were assessed. To determine possible abnormalities of the optic nerve head and macula, fundus photographs and cross-sectional images of the optic nerve head and macula obtained by optical coherence tomography were inspected. RESULTS: Three males and 3 females were enrolled. Age of the subjects ranged from 11 to 59 years (median, 45 years). Refractive error ranged from -6.25 to +1.00 diopter (median, -0.50 diopter). Peripapillary retinoschisis was located in the superior quadrant in four eyes, in the nasal quadrant in one eye, and in the inferior quadrant in one eye, respectively. No additional abnormalities were found in fundus photographs or in the cross-sectional images of the optic nerve head and macula that were obtained by optical coherence tomography. Longitudinal follow-up was available for two eyes and spontaneous resolution of peripapillary retinoschisis was observed in these eyes 6 and 9 months later, respectively. CONCLUSIONS: Peripapillary retinoschisis was observed in non-glaucomatous eyes. This finding was observed in subjects of various ranges of age and refractive error, and in both sexes, without any other accompanying abnormalities.
Female ; Follow-Up Studies ; Glaucoma ; Humans ; Intraocular Pressure ; Male ; Optic Disk ; Refractive Errors ; Retinoschisis* ; Tomography, Optical Coherence

PURPOSE: To report a case of serous macular detachment preceding macular retinoschisis in an optic pit patient successfully treated by vitrectomy with internal limiting membrane peeling. CASE SUMMARY: A 76 year old female visited our clinic for visual disturbance in her right eye. Fundus photograph revealed optic pit and OCT showed macular retinoschisis in her right eye. She was followed up in our clinic. The patient revisited our clinic because of sudden decrease of visual acuity in her right eye 3 days before. At that time, the patient's best-corrected visual acuity was 0.05. Macular retinoschisis, subretinal fluid and serous retinal detachment were observed in her right eye on OCT. She was diagnosed with serous retinal detachment associated with optic pit and pars plana vitrectomy was performed. During vitrectomy, we found adhesion and defect of posterior hyaloid membrane which covered the optic pit. Therefore, subretinal fluid was drained via membrane defect and posterior vitreous detachment and fluid-gas exchange were induced. Sixteen days after surgery, we found a macular hole in her right eye on OCT. Pars plana vitrectomy was performed with internal limiting membrane peeling. One month after surgery, macular detachment was not observed. Six months after surgery, the patient's best corrected visual acuity was 0.63 and the macula was reattached completely. CONCLUSIONS: Optic pit maculopathy can be progressed rapidly in aged patients and macular hole would be ocurred as a complication. Additional study will be needed to figure out the role of internal limiting membrane and tractional force of posterior vitreous in these patients.
Female ; Humans ; Membranes ; Retinal Detachment ; Retinal Perforations ; Retinoschisis* ; Subretinal Fluid ; Traction ; Visual Acuity ; Vitrectomy ; Vitreous Detachment

BACKGROUNDIntravitreal ranibizumab injection is effecitve on treating myopic CNVs, but it could be a risk factor for developing more severe retinoschisis in eyes with preexisted retinoschisis and epiretinal membrane. This study aimed to explore the incidence and features of retinoschisis after intravitreal ranibizumab injection for myopic choroidal neovascularization.

METHODSEighty-three eyes of 81 patients with choroidal neovascularization secondary to pathologic myopia were treated with intravitreal ranibizumab injection. The best corrected visual acuity and optical coherence tomography (OCT) images were recorded at baseline and every month thereafter. Central retina thickness and maximal retina thickness were measured. The subjects were divided into three groups. Eleven eyes that had retinoschisis and epiretinal membrane were in group 1, six eyes that had simple epiretinal membrane were in group 2, and 66 eyes that had neither retinoschisis nor epiretinal membrane were in group 3. Six contralateral eyes in group 1 which had retinoschisis and epiretinal membrane but were not treated with intravitreal ranibizumab injection were set as the control group.

RESULTSSeven of the 11 eyes in group 1 developed more severe retinoschisis, the mean maximal retinal thickness increased from (380.28 ± 90.13) to (467.00 ± 70.20) µm (P < 0.05). The retinoschisis of all 6 eyes of the control group did not aggravate. Compared with the control group, the aggravation ratio of retinoschisis increased significantly (P < 0.05). No new onset of retinoschisis took place in group 2 and group 3.

CONCLUSIONIntravitreal ranibizumab injection may be a risk factor for aggravation of retinoschisis in eyes with preexisted retinoschisis and epiretinal membrane.

Adult ; Angiogenesis Inhibitors ; administration & dosage ; therapeutic use ; Antibodies, Monoclonal, Humanized ; administration & dosage ; therapeutic use ; Choroidal Neovascularization ; drug therapy ; Female ; Humans ; Intravitreal Injections ; Male ; Middle Aged ; Myopia, Degenerative ; drug therapy ; Ranibizumab ; Retinoschisis ; drug therapy ; Retrospective Studies ; Treatment Outcome