No abstract available.
Humans ; Retinoschisis*

Juvenile retinoschisis is a vitreoretinal dystrophy with X-linked recessive mode of transmission that shows microcystic degeneration of the macula associated with splitting of the sensory retina, predominantly within the nerve fiber layer. We experienced X-linked juvenile retinoschisis, in four borthers within a family in which were the onset of visual disturbance between second decades and third decades, and all showed maculopathy, RPE atrophy, vitreous veils extended to vitreous, partial optic atrophy, specific electroretinographic findings.
Atrophy ; Humans ; Nerve Fibers ; Optic Atrophy ; Retina ; Retinoschisis* ; Siblings*

PURPOSE: To report a novel missense mutation in the XLRS1 gene in a Korean family with X-linked retinoschisis. METHODS: Observation case report of a family with a proband with X-linked retinoschisis underwent complete ophthalmologic examination. Genomic DNA was excluded from the family's blood and all exons of the XLRS1 gene were amplified by polymerase chain reaction and analyzed using a direct sequencing method. RESULTS: A novel Leu103Phe missense mutation was identified. CONCLUSIONS: A novel Leu103Phe mutation is an additional missense mutation which is responsible for the pathogenesis of X-linked retinoschisis.
Retinoschisis/*genetics ; Photoreceptors, Vertebrate ; Pedigree ; *Mutation, Missense ; Male ; Korea ; Humans ; Eye Proteins/*genetics ; DNA/*genetics ; Child

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

PURPOSE: To report a long term result of vitrectomy, gas tamponade without laser retinopexy for serous macular detachment associated with an optic disc pit (ODP). CASE SUMMARY: A 13 year old boy with visual disturbance in the left eye showed serous macular detachment associated with an inferior temporal ODP. The abnormal vitreous strand over the optic disc implying vitreous traction and retinoschisis were revealed by the optical coherence tomography (OCT) examination. Pars plana vitrectomy after complete induction of posterior vitreous detachment without laser retinopexy, and gas tamponade with postoperative facedown positioning were performed. Complete retinal attachment occurred at 6 months after first operation but recurrent macula detachment occurred at 15 months after first operation. Additional gas tamponade resulted in successful retinal attachment for more than 2 years and visual improvement. CONCLUSIONS: Vitrectomy and gas tamponade without additional laser photocoagulation could be another option for the treatment of ODP maculopathy. But recurrent macular detachment might occur and simple gas tamponade was effective in this case. This result supports another factor in addition to vitreous traction may play a role in the development of the macular detachment associated ODP. Further studies are required to evaluate the effect of vitrectomy, gas tamponade without laser retinopexy for the treatment of ODP maculopathy.
Eye ; Light Coagulation ; Retinaldehyde ; Retinoschisis ; Tomography, Optical Coherence ; Traction ; Vitrectomy ; Vitreous Detachment

PURPOSE: To evaluate long-term changes in visual acuity, fundus findings and complications in X-linked juvenile retinoschisis. METHODS: A retrospective chart review was conducted on 48 patients diagnosed with X-linked juvenile retinoschisis and followed for a minimum of 12 months. RESULTS: Forty-eight males (mean age 5.7 years) were followed for a mean of 6.3 years. The mean visual acuities were 0.14 at the initial and most recent examinations without significant change (p=0.67). Macular abnormalities were seen in all eyes. Macular lesions varied as follows: decreased foveal reflex (12.5%), typical foveal schisis (77.1%), atrophic change (5.2%), and macula-involving peripheral schisis (5.2%). When patients had different macular findings, the mean visual acuities were significantly different among groups (p< or =0.005), except those between the atrophic change group and the macula-involving peripheral schisis group. Peripheral schisis was detected in 66% of patients. The fundus findings were stationary during the follow-up period except in complicated cases with vitreous hemorrhage (15.6%). CONCLUSIONS: X-linked juvenile retinoschisis causes bilateral visual acuity loss, affecting maculae. In uncomplicated cases, changes in visual acuity and fundus findings were not significant during the follow-up period.
Follow-Up Studies ; Humans ; Male ; Reflex ; Retinoschisis* ; Retrospective Studies ; Visual Acuity ; Vitreous Hemorrhage

Asian Continental Ancestry Group ; Child ; Child, Preschool ; Humans ; Male ; Retinoschisis ; genetics ; pathology

Confusion may occur between rhegmatogenous retinoschisis and retinal detachment due to tumors. The retinoschisis manifests itself in different forms according to clinical, pathogenetic and hereditary factors. They are senile and juvenile types. The latter can be further classified into two different varieties. The most important tumor related with retinal detachment is the malignant melanoma of the choroid. However, the exophytic retinoblastoma in infants and young children, and metastatic carcinomas in senile patients also should be kept in mind. Various helpful methods in differential diagnosis between rhagmatogenous retinal detachment, retinoschisis and retinal detachment due to tumors are discussed.
Child ; Choroid ; Diagnosis, Differential* ; Humans ; Infant ; Melanoma ; Retinal Detachment* ; Retinaldehyde* ; Retinoblastoma ; Retinoschisis

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: 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