Stellate nonhereditary idiopathic foveomacular retinoschisis.

PURPOSE: To describe a new classification of stellate nonhereditary idiopathic foveomacular retinoschisis (SNIFR). DESIGN: Retrospective case series and literature review. PARTICIPANTS: A total of 17 patients from 5 institutions. METHODS: Detailed case history, multimodal imaging, and genetic testing were reviewed for patients with macular schisis without a known predisposing condition. Patients with a stellate appearance centered on the fovea with correlating confirmed expansion of the outer plexiform layer (OPL) by optical coherence tomography (OCT) were included. Exclusion criteria included a family history of macular retinoschisis, a known genetic abnormality associated with retinoschisis, myopic traction maculopathy, epiretinal membrane, vitreoretinal traction, optic or scleral pit, or advanced glaucomatous optic nerve changes. MAIN OUTCOME MEASURES: Clinical features, anatomic characteristics, and visual acuity. RESULTS: A total of 22 eyes from 16 female patients and 1 male patient with foveomacular schisis were reviewed from 5 institutions. Initial visual acuity was ≥ 20/50 in all eyes (mean, 20/27), but visual acuity in a single eye decreased from 20/20 to 20/200 after the development of subfoveal fluid. The refractive status was myopic in 16 eyes, plano in 3 eyes, and hyperopic in 2 eyes. Three eyes had a preexisting vitreous separation, and 19 eyes had an attached posterior hyaloid. Follow-up ranged from 6 months to >5 years. CONCLUSIONS: In this largest known series of patients with SNIFR, all patients demonstrated splitting of the OPL in the macula with relatively preserved visual acuity (≥ 20/40) except in a single patient in whom subretinal fluid developed under the fovea.

Clinical and genetic findings in Hungarian patients with X-linked juvenile retinoschisis.

PURPOSE: To determine clinical phenotypes, examine the age dependency of X-linked juvenile retinoschisis (XLRS), and identify mutations in the retinoschisis1 gene (RS1) in 13 Hungarian (Caucasian) families with this disease. METHODS: This study included 72 members in 13 families. Complete ophthalmological examinations, including optical coherence tomography (OCT) and full-field and multifocal electroretinography (ERG), were performed on 20 affected males, 13 female carriers, and 27 healthy controls. The patients were divided into two age groups (Group I <25 years and Group II >25 years), retrospectively, to assess the possible effects of age. Correlations among genotype, age, best corrected visual acuity (BCVA), OCT, and ERG results were analyzed. A modified classification scheme was done to identify the different phenotypes of the disease. In each of the 72 family members and 100 age-matched male controls, all exons and introns of RS1 were amplified by polymerase chain reaction (PCR) and directly sequenced. RESULTS: Foveal retinoschisis was detected in 25 eyes (62.5%) of patients by funduscopy, and in 29 eyes (72.5%) by OCT, while macular lamellar schisis was recognizable only by OCT in 30 eyes (75%) of patients. Foveal thickness (FT) and total macular volume were significantly increased in younger (Group I) patients only. For patients younger than 26 years, large inner nuclear central cysts were observable by OCT, while after 26 years, foveas were atrophic. White flecks and dots, which were like that seen in fundus albipunctatus, were detected in both eyes of one patient. In both patient groups, characteristically decreased b-waves of standard combined ERG were recorded without any significant difference between the patient groups. The BCVA and ERG parameters of all patients and the OCT of younger patients were significantly worse (p<0.05) than those of age-matched controls. A significant difference between the two age groups was found in case FT, total macular volume, and amplitudes of rod b-wave only. Moderate negative correlation (r=-0.54, p<0.001) was detected between age and FT, while only low negative correlation (r=-0.33, p<0.05) was detected between age and standard combined b-wave amplitudes of full-field ERG. BCVA LogMAR did not show any obvious correlation with age (r=-0.14, p=0.39) or with the type of mutation. Nine different mutations were identified in 25 male patients and 31 female carriers of 13 families: six known and one novel missense mutation (c.575C>T, p.Pro192Leu), one insertion mutation (c.579dupC, p.Ile194Hisfs29ext43), and one frameshift, causing splice site mutation (c.78+1G>C) were detected. These mutations were absent in the 100 age-matched male control samples. CONCLUSIONS: Foveal cystic schisis was found more often by OCT than by funduscopy (+10%), while flat macular lamellar schisis was recognizable only by OCT. Advancing age inversely influenced the size of cavities (FT), and standard combined b-wave amplitudes of full-field ERG, while BCVA, response density, and implicit times of multifocal electroretinography did not show any obvious correlation with age. The atrophic stage of the disease was observable after 26 years of age. The lesions that appeared to be indicative of fundus albipunctatus were proven to be palisades between the splitted retinal layers. Our modified classification scheme was helpful in assessing the prevalence of disease types. In these Hungarian patients, one novel and eight known mutations were detected. The distribution of mutations in RS1 was different to that reported in the literature, because the greatest number of different mutations was in exon 6 instead of exon 4. Two mutation hot spots were found: between c.418-422 in exon 5 and between c.574-579 in exon 6. Genotype-phenotype correlation was not demonstrable.

[Senile retinoschisis with tearing of the deep layer--classification and pathogenic hypotheses]. / Déchirures du feuillet externe des rétinoschisis--classification et déductions pathogéniques.

The observations have been made on 52 eyes with senile retinoschisis with tearing of the deep layer. These principle studies are the aspect of tearing, in order to classify and discuss the pathogenic hypotheses. Seven types of tearing are presented. Their modes of formation seem different. We established a pathogenic classification of these tears. The risk of operation on a secondary retinal detachment is always a subject of discussion even if the symptomatic detachment may be considered very rare. From these seven observation of schisis detachment, there is proposed a pathogenic hypothesis. The vitreous have played the principal role in making a traction on the edge of the deep tears where sometimes the retinoschisis is not formed. It is recommended to observe and analyse systematically the tearing of the retinoschisis external layer.

[Retinoschisis. 1. Diagnosis, classification, examination methods]. / Retinoshizis. Soobshchenie I. Diagnostika, klassifikatsiia, metody obsledovaniia.

Extensive clinical data (595 patients) were made use of to work out a clinical classification and to isolate 2 groups of patients, i.e. one with primary retinoschisis and the other with secondary retinoschisis. According to etiopathogenesis, primary retinoschisis is subdivided into the inherited (congenital) variation and the acquired one. Congenital retinoschisis comprises, in its turn, juvenile and linked with X-chromosome variants as well as retinoschisis observed in Goldman-Favre and Wagner syndromes. The group of acquired retinoschisis is made up of degenerative (senile) and myopic variants, which are triggered by the typical or cystic peripheral retinal degeneration. Secondary retinoschisis is observed in different eye diseases like trauma, diabetes, uveitis, angiomatosis etc. The central, peripheral and combined retinoschisis variations are distinguished according to localization; two variations are distinguished according to the disease clinical course, i.e. stationary with demarcation and complicated progressing without demarcation and with uneven borders. The study results show that retinoschisis of any variation begins at the extreme periphery; lamination of the flat type develops primarily in the lower-external quadrant and the one of the bullous type--in the upper-external quadrant.

Plasmin enzyme-assisted vitreoretinal surgery in congenital X-linked retinoschisis: surgical techniques based on a new classification system.

PURPOSE: To review the surgical outcome of autologous plasmin enzyme-assisted vitreoretinal surgery in managing complications associated with congenital X-linked retinoschisis (CXLRS). METHODS: Medical records of 20 patients (22 eyes) with CXLRS complications, treated with autologous plasmin enzyme-assisted vitreoretinal surgery, were reviewed. Surgical techniques were adapted according to a new CXLRS classification. RESULTS: Median age of the cohort was 3.5 years. Indications for surgical intervention included 8 eyes with schisis involving or threatening the macula, 7 eyes with rhegmatogenous retinal detachment, 4 eyes with tractional retinal detachment, 1 eye with vitreous and intraschisis hemorrhage, 1 eye with obstruction of the macula by an overhanging bullous schisis cavity, and 1 eye with macular pucker. Ninety-one percent (20/22) of eyes had retinal attachment postoperatively after an average of 1.3 procedures per eye. Of the eyes in which visual acuity was measured, 53% (8/15) improved, 33% (5/15) had no change, and 13% (2/15) lost vision. CONCLUSION: Plasmin enzyme-assisted vitreoretinal surgery is a safe and effective method for managing the complications associated with CXLRS. Most patients had improved or stable postoperative visions.

Congenital X-linked retinoschisis classification system.

PURPOSE: To establish a classification system for congenital X-linked retinoschisis (CXLRS) using clinical examination and optical coherence tomography (OCT). METHODS: Thirty-eight eyes of 19 patients who carried a clinical diagnosis of CXLRS were examined with OCT and clinical examination. Eyes were classified into one of four types based on a combination of clinical examination and OCT. RESULTS: All patients had bilateral OCT scanning performed at an average age of 8.64 years (range 2.24-17.4 years). Review of OCT scans revealed that 37 of 38 eyes had foveal schisis (97%) while 31 of 38 (82%) eyes had macular schisis deeper than the nerve fiber layer in areas of ophthalmoscopically normal macular retina. The authors termed this flat schisis phenomenon lamellar schisis. Thirty of 38 (79%) had peripheral bullous schisis cavities present. CONCLUSIONS: OCT examinations of patients with CXLRS reveal lamellar schisis in areas of ophthalmoscopically normal macular retina in 82% of eyes with the clinical diagnosis of CXLRS. Using both clinical examination and OCT, the authors were able to identify foveal, lamellar, and peripheral schisis, lamellar schisis only identifiable by OCT. These findings allow the authors to propose a classification system. The authors hope this classification system will allow a better understanding of the natural history of CXLRS disease and allow testing of therapeutic options.