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: We report a case of intravitreal bevacizumab injection for the treatment of choroidal neovascularization in morning glory syndrome. CASE SUMMARY: A 51-year-old male visited our hospital for a 1.5-year visual disturbance in his right eye. The patient's best-corrected visual acuity was 0.1 in the right eye. After fundus examination, we found characteristic findings of morning glory syndrome with submacular hemorrhage and serous retinal detachment in the right eye. Optical coherence tomography, fluorescein angiography and indocyanine green angiography were performed for evaluation. Retinoschisis, subretinal fluid, and choroidal neovascularization were detected, and thus bevacizumab was injected in the right eye. After intravitreal bevacizumab injection, retinoschisis was improved, and subretinal fluid was decreased. However, retinal pigment epithelial detachment was newly detected, and serous retinal detachment persisted. After 2 months, a second bevacizumab injection was performed. After these intravitreal bevacizumab injections at 1 and 2 months, visual acuity was 0.4 and 0.6, respectively. Visual acuity improved to 1.0 after 3 months. Visual acuity was maintained for at least 6 months with no relapse of choroidal neovascularization. CONCLUSIONS: The choroidal neovascularization in morning glory syndrome was effectively treated with intravitreal bevacizumab injections.
Angiography ; Choroidal Neovascularization* ; Fluorescein Angiography ; Hemorrhage ; Humans ; Indocyanine Green ; Male ; Middle Aged ; Recurrence ; Retinal Detachment ; Retinoschisis ; Subretinal Fluid ; Tomography, Optical Coherence ; Visual Acuity ; Bevacizumab

PURPOSE: To report the clinical finding of 3 patients with focal choroidal excavation in the macula detected by spectral-domain optical coherence tomography (SD-OCT). CASE SUMMARY: Five eyes of 3 patients with focal choroidal excavation detected by SD-OCT were enrolled in the present study. All patients had myopia (average refractive power -5.60 diopter). Two of the 3 patients had focal choroidal excavation in both eyes. All 5 eyes revealed foveal pigmentary changes on fundus examination. The excavation area in the autofluorescence image was hypofluorescent. Fluorescein angiographic finding was normal to various degrees of hyperfluoresence. Indocyanine green angiography revealed hypofluoresence at the excavation area. The excavation involoved from the retinal pigment epithelium layer to the external limiting membrane or outer nuclear layer and average choroidal thickness at excavation were statistically thinner than the uninvolved area based on SD-OCT (p = 0.002). Retinoschisis, serous pigment epithelial detachment and choroidal neovascularziation (CNV) were detected individually in 3 eyes. The other 2 eyes had no specific abnormalities. CONCLUSIONS: During the follow-up period, the choroidal excavation remained relatively stable in 4 of 5 eyes, but CNV developed in 1 eye. Therefore, intravitreal bevacizumab injection was performed. Longer follow-up periods are necessary to determine the etiology, clinical course and visual prognosis of eyes with focal choroidal excavation.
Angiography ; Choroid* ; Fluorescein ; Follow-Up Studies ; Humans ; Indocyanine Green ; Membranes ; Myopia ; Prognosis ; Retinal Pigment Epithelium ; Retinoschisis ; Tomography, Optical Coherence* ; Bevacizumab