Retinal Schisis Research Articles

Myopic traction maculopathy in fovea-involved myopic chorioretinal atrophy.

To assess the specific features of myopic traction maculopathy (MTM) in the context of myopic macular atrophy (MA). The evolution, surgical considerations, optimal surgical procedures, and results were studied. Retrospective, consecutive cases collection was performed for highly myopic eyes with MA (category 4, the classification system of META-analysis for Pathologic Myopia). Eighty-seven eyes of 75 patients with MA were included. The characteristics and evolution of the MTM were analyzed. Surgical indications and outcomes were evaluated and specific surgical features and techniques were assessed. Approximately half (50.6%) of the cases with MA presented with various stages of MTM. The majority were maculoschisis with a lamellar macular hole (LMH) and were characterized by an O-shaped LMH, high outer retinal schisis, thin floor, and a high percentage of thickened epiretinal tissue. Half (50%) of them either displayed maculoschisis progression (61%) or developed into macular hole with retinal detachment (39%), and all received surgical intervention. The inverted ILM flap technique, with or without fovea-sparing ILM peeling, was the most frequently used surgical technique (78%). Complete traction relief was achieved in most cases (94%). MA contributes to the specific configuration and evolution of MTM, and characteristic maculoschisis with LMH is a frequent presentation in MA patients. MHRD development and structural progression were two major reasons for surgical intervention. Vitrectomy with inverted ILM flap effectively stabilized the macular structure with few recurrences.

Intravitreal Delivery of rAAV2-hSyn-hRS1 Results in Retinal Ganglion Cell-Specific Gene Expression and Retinal Improvement in the Rs1-KO Mouse.

X-linked retinoschisis (XLRS) is a monogenic recessive inherited retinal disease caused by defects in retinoschisin (RS1). It manifests clinically as retinal schisis cavities and a disproportionate reduction of b-wave amplitude compared with the a-wave amplitude. Currently there is no approved treatment. In the last decade, there has been major progress in the development of gene therapy for XLRS. Previous preclinical studies have demonstrated the treatment benefits of hRS1 gene augmentation therapy in mouse models. However, outcomes in clinical trials have been disappointing, and this might be attributed to dysfunctional assembly of RS1 complexes and/or the impaired targeted cells. In this study, the human synapsin 1 gene promoter (hSyn) was used to control the expression of hRS1 to specifically target retinal ganglion cells and our results confirmed the specific expression and functional assembly of the protein. Moreover, our results demonstrated that a single intravitreal injection of rAAV2-hSyn-hRS1 results in architectural restoration of retinal schisis cavities and improvement in vision in a mouse model of XLRS. In brief, this study not only supports the clinical development of the rAAV2-hSyn-hRS1 vector in XLRS patients but also confirms the therapeutic potential of rAAV-based gene therapy in inherited retinal diseases.

Deep Learning with Automatic Data Augmentation for Segmenting Schisis Cavities in the Optical Coherence Tomography Images of X-Linked Juvenile Retinoschisis Patients.

X-linked juvenile retinoschisis (XLRS) is an inherited disorder characterized by retinal schisis cavities, which can be observed in optical coherence tomography (OCT) images. Monitoring disease progression necessitates the accurate segmentation and quantification of these cavities; yet, current manual methods are time consuming and result in subjective interpretations, highlighting the need for automated and precise solutions. We employed five state-of-the-art deep learning models-U-Net, U-Net++, Attention U-Net, Residual U-Net, and TransUNet-for the task, leveraging a dataset of 1500 OCT images from 30 patients. To enhance the models' performance, we utilized data augmentation strategies that were optimized via deep reinforcement learning. The deep learning models achieved a human-equivalent accuracy level in the segmentation of schisis cavities, with U-Net++ surpassing others by attaining an accuracy of 0.9927 and a Dice coefficient of 0.8568. By utilizing reinforcement-learning-based automatic data augmentation, deep learning segmentation models demonstrate a robust and precise method for the automated segmentation of schisis cavities in OCT images. These findings are a promising step toward enhancing clinical evaluation and treatment planning for XLRS.

Optical coherence tomographic findings of glaucomatous eyes with papillomacular retinoschisis.

To investigate the relationship between the shape of the optic nerve head (ONH) margin detected by optical coherence tomography (OCT) and the clinical characteristics of glaucomatous eyes with papillomacular retinoschisis (PMRS). The medical record of patients with a PMRS in a glaucomatous eye were reviewed. The eyes were placed into two groups determined by the shape of the ONH margin in the OCT images; eyes with an externally oblique ONH margin (Group 1) and eyes with an internally oblique ONH margin (Group 2). We compared the clinical characteristics of the PMRS of these two groups. We studied 31 eyes of 29 patients with PMRS and glaucoma with 24 eyes in Group 1 and 7 eyes in Group 2. The optic nerve fibrelayer schisison the lamina cribrosa (LC), beta zone, and gamma zone, and found that the LC defects were detected significantly more frequently in Group 1 than in Group 2 eyes (P < 0.05). A retinal nerve fibre schisis was observed around the ONH significantly more frequently in Group 2 than in Group 1 eyes (P < 0.01). The cases of glaucoma-associated PMRS could be classified into two groups according to the obliquity of the ONH. They had differences in the findings of OCT and FA. The possibility that the mechanism of PMRS development is different in both groups is suggested.

Myopic macular schisis: Insights into distinct morphological subtypes and novel biomechanical hypothesis.

To analyze the features of myopic macular schisis (MMS) in different retinal layers and to explore the role of Müller cells in the pathophysiology of such condition. Spectral-domain optical coherence tomography (SD-OCT) images of myopic eyes with staphyloma and macular schisis were reviewed. The morphological features of MMS were analyzed and correlated with their geographical location in the parafoveal and perifoveal region. A biomechanical model was adopted to explain MMS morphological differences. The effect of the different schisis subtypes with best corrected visual acuity (BCVA) was also explored. A total of 36 eyes from 26 patients were included in this study. MMS was classified into inner, middle and outer retinal subtypes. The prevalence of middle retinal schisis was significantly lower in the parafovea, within a central 3 mm-diameter circle (p < 0.001) centered at the fovea . The prevalence of inner retinal schisis was significantly higher outside the central 3-mm diameter circle, in the perifoveal region (p < 0.001). No significant differences were noted in the prevalence of outer retinal schisis for these two locations (p = 0.475). The presence of middle retinal schisis within the central 3-mm diameter circle showed a weak association with lower BCVA (p = 0.058). The presence of outer retinal schisis within the central 3-mm diameter circle was significantly related with lower BCVA (p = 0.024). Three major forms of MMS are distinguished: inner, middle and outer retinal schisis. This classification may have clinical importance as only the outer grade of schisis was associated with vision loss.

Vitreoretinal Interface Changes After Anti-vascular Endothelial Growth Factor Treatment in Highly Myopic Eyes: A Real-World Study.

To investigate changes in the vitreoretinal interface after anti-vascular endothelial growth factor (anti-VEGF) treatment in highly myopic eyes. Eyes with myopic choroidal neovascularization (mCNV) treated with intravitreal injection of anti-VEGF in a single-center were retrospectively reviewed. Fundus abnormalities and features of optical computed tomography were studied. A total of 295 eyes from 254 patients were recruited to the study. Prevalence of myopic macular retinoschisis (MRS) was 25.4%, and the rates of progression and onset of MRS were 75.9% and 16.2%, respectively. Outer retinal schisis (β = 8.586, p = 0.003) and lamellar macular hole (LMH) (β = 5.015, p = 0.043) at baseline were identified risk factors for progression and onset of MRS, whereas male sex (β = 9.000, p = 0.039) and outer retinal schisis at baseline (β = 5.250, p = 0.010) were risk factors for MRS progression. Progression of MRS was first detected in outer retinal layers in 48.3% of eyes. Thirteen eyes required surgical intervention. Spontaneous improvements of MRS were observed in five eyes (6.3%). Changes in the vitreoretinal interface, such as progression, onset, and improvement of MRS, were observed after anti-VEGF treatment. Outer retinal schisis and LMH were risk factors of progression and onset of MRS after anti-VEGF treatment. Intravitreal injection of ranibizumab and retinal hemorrhage were protective factors for surgical intervention for vision-threatening MRS.

Widefield Fluorescein Angiography Findings in Pediatric Patients with X-Linked Retinoschisis

To evaluate the retinal vasculature in pediatric patients with X-linked retinoschisis (XLRS). Retrospective consecutive case series. Pediatric patients with a diagnosis of XLRS who had undergone widefield fluorescein angiography (FA). The electronic medical records of pediatric patients with XLRS at a tertiary referral eye center were reviewed from January 2015 to December 2021. Fluorescein angiography images were reviewed for anomalies of the retinal vasculature. Vascular anomalies on FA were recorded, including capillary dropout/ischemia, terminal supernumerary vessels, vascular leakage, abnormal vascular loops, straightening of vessels, aberrant circumferential vessels, and neovascularization. In total, 29 eyes of 15 patients were included in the study (1 patient had a phthisical eye). On FA, the most common findings were capillary dropout/ischemia (21 of 29 eyes, 72.4%), terminal supernumerary vessels (21 eyes, 72.4%), abnormal vascular loops (20 eyes, 69%), and vascular leakage (17 eyes, 58.6%). Of the 17 eyes with leakage, the most posterior zone of involvement was zone 1 in 11 eyes (64.7%) and zone 2 in 6 eyes (35.3%). All eyes demonstrated ≥ 1 vascular anomaly on FA. Among the 29 eyes, 23 (79.3%) demonstrated peripheral bullous schisis or retinal detachment (RD) with a mean of 5.6 clock hours of involvement. The presence of either RD or bullous retinal schisis was associated with the incidence of capillary dropout (91.3% in schisis/RD eyes vs. 0% in nonschisis/RD eyes, P < 0.001). Among those with RD or bullous schisis, a higher degree of involvement correlated with more severe capillary dropout (Pearson 0.49, P=0.025). The present study demonstrates consistent vascular changes in pediatric patients with XLRS using widefield FA. Although the presence of capillary ischemia was associated with the severity of bullous schisis or RD, other vascular anomalies were observed in patients both with and without peripheral schisis. Although further research is needed to understand the etiology of these vascular anomalies, FA should be considered in the evaluation of these patients. Proprietary or commercial disclosure may be found after the references.

Post-vitrectomy delayed retinal breaks in proliferative diabetic retinopathy

PurposeTo report a series of cases of post-operative new secondary retinal breaks following vitrectomy for proliferative diabetic retinopathy (PDR).MethodsThis retrospective case series included data of patients diagnosed with post-operative retinal breaks following uneventful vitrectomy surgery for PDR from January 2018 to December 2021.ResultsNew post-vitrectomy retinal breaks in PDR were seen in 7% of eyes (n = 10/148 eyes; 10 patients). Age of study patients ranged from 45 to 69 years and there were 8 males. Vitreous surgery was performed for vitreous hemorrhage in six eyes, macular tractional retinal detachment in three eyes and epiretinal membrane in one eye. Tractional fibrovascular proliferation near the retinal break prior to its development was noted either pre- or intra-operatively in 8 eyes. Mean time interval between the vitreous surgery and secondary retinal break development was 6.4 months. Residual fibrous tissue post-surgery adjacent to the break was noted in 4 cases. Sclerosed retinal vessel was noted in 4 eyes and associated inner retinal thinning or schisis in 5 eyes. No retinal detachment was noted in any case. Prophylactic barrage was done in 4 eyes. Last follow-up interval ranged from 4 to 53 months and visual acuity ranged from 6/6 to 6/60. No subretinal fluid, traction or break enlargement was noted at the last visit.ConclusionDelayed post-operative retinal breaks following vitrectomy are uncommon in PDR eyes. Careful preoperative evaluation of the retinal proliferations, intraoperative dissection of the membranes and regular post-operative reviews are vital in anticipating the development of delayed post-vitrectomy retinal breaks. Observation could be the management strategy for these breaks.

Retro-mode imaging of gravitational subretinal fluid associated with optic disc pit maculopathy with extensive retinal schisis in a young myopic patient

A 32-year-old female with high myopia and optic disc pit maculopathy associated with schisis was imaged on the Mirante confocal scanning laser ophthalmoscope (Nidek Co, Ltd, Gamagori, Japan). Scanning laser ophthalmoscope colour fundus photography (A) shows a hypopigmented area corresponding with the schisis (green arrows), whereas the blue-light fundus autofluorescence (B) highlights an oval hyperautofluorescent area consistent with the subretinal fluid (SRF; white arrow), which is a useful landmark to monitor the extension and localization of the fluid during the course of follow-up. Retro-mode illumination (C) demonstrates enhanced visualization of the margin of the SRF (white arrow). The myopic schisis is highlighted on retro-mode illumination (green arrows) as fine radiating lines. Optical coherence tomography demonstrates the schisis associated with subretinal fluid (D). Panel E illustrates more subtle, smaller areas of schisis adjacent to the SRF.

Choroideremia Gene Therapy.

Choroideremia Gene Therapy.

Autosomal Recessive Bestrophinopathy: Clinical and Genetic Characteristics of Twenty-Four Cases.

Background To describe ocular manifestations, imaging characteristics, and genetic test results of autosomal recessive bestrophinopathy (ARB). The study design is an observational case series. Methods Forty-eight eyes of 24 patients diagnosed with ARB underwent complete ophthalmic examinations including refraction, anterior and posterior segment examination, enhanced depth imaging optical coherence tomography (EDI-OCT), fluorescein angiography (FA), electroretinography (ERG), and electrooculography (EOG). Optical coherence tomography angiography (OCTA) and BEST1 gene sequencing were performed in selected patients. Results The age at onset was 4–35 years (mean: 18.6 years). The male-to-female ratio was 0.45. All patients were hyperopic, except one with less than one diopter myopia. EOG was abnormal in 18 cases with near-normal ERGs. Six patients did not undergo EOG due to their young age. Eighteen patients (75%) had a thick choroid on EDI-OCT, of which three had advanced angle-closure glaucoma, 15 patients were hyperopic, and eight of them had more than four diopters hyperopia in both eyes. Macular retinoschisis was observed in 46 eyes of 23 patients (95%) with cysts mostly located in the inner nuclear layer (INL) to the outer nuclear layer (ONL). Of the 18 patients who underwent FA, mild peripheral leakage was seen in eight eyes of four patients (22%). Subfoveal choroidal neovascularization (CNV) was seen in three eyes of two patients (6%) that responded well to intravitreal bevacizumab (IVB). Seven mutations of the bestrophin-1 (BEST1) gene were found in this study; however, only two of them (p.Gly34 = and p.Leu319Pro) had been previously reported as the cause of ARB based on ClinVar and other literature studies. Conclusions ARB can be presented with a wide spectrum of ocular abnormalities that may not be easily diagnosed. Pachychoroid can occur alongside retinal schisis and may be the underlying cause of angle-closure glaucoma in ARB. Our study also expands the pathogenic mutation spectrum of the BEST1 gene associated with ARB.

Correlation of morphological characteristics of staphyloma with the structural and functional outcomes of myopic traction maculopathy after macular buckle surgery.

Purpose:To compare morphological features of staphyloma (type and grade) with structural and functional outcomes in 11 patients with symptomatic myopic tractional maculopathy (MTM) who underwent macular buckle surgery.Methods:A retrospective observational case series, where a chart review was conducted of the type (Curtin classification) and grade of staphyloma (USG B-scan based). Optical coherence tomography (OCT) macula analysis done preoperatively and postoperatively 1 and 6–8 weeks), Visual acuity was recorded in log mar.Results:With an average myopia of −10.35 D (−5 to −14.5 D), there were four patients with types II and IX staphyloma and seven with type I staphyloma. The average axial length was 28.6 ± 0.98 mm in type II/IX and 26.2 ± 0.8 mm in type I. Preoperative OCT features were outer retinal layer schisis (11), retinal detachment (foveal: 2, macular: 8), macular hole (lamellar: 3, full thickness: 4), and taut posterior hyaloid (3). Postoperatively, patients with type II/IX staphyloma had significant gain in visual acuity from 1.05 ± 0.3 to 0.74 ± 0.2 Log Mar. The structural features also responded better in patients with types II/IX staphyloma, with all patients having more than 90% reduction in schisis and retinal attachment at 6 weeks. Whereas only two patients with type I staphyloma had similar reduction in schisis at 6 weeks and only one had complete retinal attachment.Conclusion:In patients with MTM, the staphyloma characteristics preoperatively can help us prognosticate about structural and functional success after macular buckle surgery. In our small case series, patients with type II/IX staphyloma and larger axial length had better structural and functional outcomes.

Surgical technique: Autologous scleral flap for optic disk pit maculopathy.

To present a clinical case and surgical technique for management of optic disk pit (ODP) maculopathy. Surgical technique video of lens sparring pars plana vitrectomy, autologous scleral flap insertion and gas tamponade. After 1 year follow-up visual acuity was restored to 20/25, retinal serous detachment and schisis were resolved and the autologous scleral flap remained in the (ODP). In this case, treatment with pars plana vitrectomy autologous scleral flap insertion and gas tamponade for optic pit maculopathy provided satisfactory anatomical and functional results.

Fovea-Sparing versus Standard Internal Limiting Membrane Peeling for Myopic Traction Maculopathy: A Study of 102 Consecutive Cases

To investigate the long-term outcomes of pars plana vitrectomy (PPV) with fovea-sparing internal limiting membrane (ILM) peeling (FSIP) and standard ILM peeling for myopic traction maculopathy (MTM). Retrospective case series. A total of 102 eyes of 96 consecutive patients who underwent primary PPV for MTM and were followed up for at least 12 months. We compared the outcomes of eyes that underwent vitrectomy with FSIP from October 2012 to March 2017 with those of eyes that underwent vitrectomy with standard ILM peeling from June 2008 to September2012. Best-corrected visual acuity (BCVA) at 12 months and the final follow-up visit after surgery, time to MTM resolution, and postoperative complications such as macular hole (MH) formation. There were 26 and 76 eyes in the FSIP and standard ILM peeling groups, respectively. In both groups, the mean visual acuity (VA) at the 12-month follow-up was significantly improved relative to the mean preoperative VA (P < 0.001 for both groups). The preoperative and postoperative BCVA (logarithm of the minimum angle of resolution) showed no significant between-group differences (preoperative: 0.60±0.35 in the FSIP group and 0.61±0.39 in the standard ILM peeling group, P= 0.935; postoperative BCVA: 0.32 ± 0.43 in the FSIP group and 0.37 ± 0.38 in the standard ILM peeling group, P= 0.281). The mean time to the resolution of foveal retinal detachment and schisis was also comparable between groups (8.9 ± 4.8 months in the FSIP group and 6.9 ± 4.6 months in the standard ILM peeling group, P= 0.084). None of the eyes in the FSIP group and 6 eyes (8%) in the standard ILM peeling group developed postoperative MH. Consequently, the BCVA at 12 months deteriorated by 3 or more lines for 4 eyes (5%) in the standard ILM peeling group; this deterioration was not observed for any eye in the FSIP group. Risk factors for postoperative MH formation were worse preoperative visual acuity (P = 0.035) and thinner choroidal thickness (P = 0.025). The visual and anatomic improvements after vitrectomy with FSIP may be comparable to those after vitrectomy with standard ILM peeling, with FSIP showing the ability to prevent postoperative MH formation and a consequent impairment in vision.

Assessment of Postoperative Morphologic Retinal Changes by Optical Coherence Tomography in Recipients of an Electronic Retinal Prosthesis Implant

The postoperative retinal changes at the interface between an implant electrode array and the retina and whether these anatomic changes have an association with the patient visual performance are unknown. To report morphologic changes in recipients of an Argus II Retinal Prosthesis. This consecutive, noncomparative case series study included a retrospective review of the preoperative and postoperative optical coherence tomography of 33 eyes among 33 individuals who underwent Argus II Retinal Prosthesis System implantation between October 28, 2011, and June 8, 2017, at 2 different centers, by the same surgeon (S.R.). Thirteen patients received an implant at Azienda Ospedaliero Universitaria Pisana, Pisa, Italy, between October 28, 2011, and October 27, 2014, and 20 patients underwent surgery at Azienda Ospedaliera Universitaria Careggi, Florence, Italy, between December 20, 2014, and June 8, 2017. Patients were excluded if they did not reach the 6-month follow-up. All patients were evaluated before surgery, during the first postoperative day, and at 1, 3, 6, 12, and 24 months (subsequently once a year, except for patient-related adverse events), with a comprehensive ophthalmic examination, retinal fundus photography, spectral-domain optical coherence tomography, and visual function tests to evaluate the stability or improvement of their visual performance. Of the 20 patients included in the analysis, all were of white race/ethnicity, 12 (60%) were male, and the mean (SD) age was 57.4 (11.6) years. Optical coherence tomography revealed the development of a fibrosislike hyperreflective tissue limited at the interface between the array and retina in 10 eyes (50%). In 9 of 10 patients (90%), fibrosis evolved and progressed to retinal schisis. Despite the development of the fibrosis and schisis, there was no deterioration in the patient's visual performance evaluated prospectively with visual function tests (square localization and direction of motion). Optical coherence tomography may be used to observe the retinal anatomic changes in patients with an Argus II Prothesis. This analysis revealed the development of a fibrosislike hyperreflective tissue limited at the interface between array and retina that progressed to retinal schisis but with no deterioration in the patients' visual performance.

Swept source optical coherence tomography and optical coherence tomography angiography in pediatric enhanced S-cone syndrome: a case report

BackgroundEnhanced S-cone syndrome is an autosomal recessive retinal dystrophy related to a defect in a nuclear receptor gene (NR2E3) that leads to alteration in cells development from rod to S-cone. This retinal dystrophy may be associated with retinal schisis. The aim of this report is to describe structural optical coherence tomography and optical coherence tomography angiography features in a case of enhanced S-cone syndrome associated with macular schisis.Case presentationA Caucasian 13-year-old girl underwent measurement of best corrected visual acuity, ophthalmoscopic evaluation, and fundus autofluorescence examination. Photopic and scotopic electroretinography were carried out as well. Enhanced S-cone syndrome was suspected on the basis of clinical and electrophysiological findings. Structural optical coherence tomography and optical coherence tomography angiography allowed the further characterization of the associated macular schisis.Genetic analysis not only confirmed the diagnosis but increased the clinical novelty of this case report by showing two variations in the NR2E3 gene probably related to the phenotype: a missense variation c.1118T>C which leads to the substitution of leucine with proline in amino acid position 373, and c.349+5G>C, which involves a gene sequence near a splicing site.ConclusionsSwept source structural optical coherence tomography (B scans and “en face” images) and optical coherence tomography angiography allowed the observation of retinal structural details and the involvement of each retinal layer and capillary plexus in enhanced S-cone syndrome. Of interest, neither of the two NR2E3 gene variants found in this case report have been linked to any form of retinopathy.

Intraoperative optical coherence tomography assisted analysis of pars Plana vitrectomy for retinal detachment in morning glory syndrome: a case report

BackgroundThe pathogenesis of non-rhegmatogenous retinal detachment (non-RRD) associated with morning glory syndrome (MGS) is not established, as well as best surgical approach to treat RD. Our purpose was to analyse intraoperative optical coherence tomography data (iOCT) in all steps of pars plana vitrectomy (PPV) for non-RRD in MGS, in order to follow pathophysiological aspects of the disease and to understand the tissues behaviour during surgical workflow.Case presentationIntraoperative spectral domain optical coherent tomography (iSD-OCT) assisted PPV using Rescan 700 (Carl Zeiss Meditech, Jena, Germany) with epiretinal membrane (ERM) and internal retinal membrane (ILM) peeling, and air endotamponade was performed on the only eye of a 21 years old female with non-RRD associated with MGS. BCVA, pre-, intra- and postoperative OCT were performed along with standard ocular examination. iOCT video and snapshots were analysed intra- and postoperatively using post-processing approach using graphic software. The progression of non-RRD resulted in best corrected visual acuity (BCVA) decrease from 0.8 to 0.2. Triamcinolone enhanced iOCT imaging revealed strong vitreous traction and adhesion above the macula and optic disc. Internal limiting membrane was peeled under iOCT control to prevent the peeling of inner layers of the retinal schisis. No retinal break was detected, and only air endotamponade was performed. The retina reattached during first 4 weeks of follow-up with gradual resolution of intraretinal- and subretinal fluid, and remained stable in 12 months. BCVA improved to 0.8.ConclusionBased on iSD-OCT findings we assume that non-RRD in this case of MGS is caused primarily by the vitreous traction with further possible formation of the retinal breaks. Retinal reattachment reached only with air endotamponade strongly advocates the tractional component of non-RRD and retinal schisis assotiated with MGS. Early PPV for central non-RRD and retinal schisis with the use of iOCT can be performed in more safe and controlled manner and has to be considered to reduce the risk of retinal break formation and to prevent the central vision loss.

Case report of an atypical early onset X-linked retinoschisis in monozygotic twins

BackgroundX-linked Retinoschisis (XLRS) is one of the most common macular degenerations in young males, with a worldwide prevalence ranging from 1:5000 to 1:20000. Clinical diagnosis of XLRS can be challenging due to the highly variable phenotypic presentation and limited correlation has been identified between mutation type and disease severity or progression.Case presentationWe report the atypical early onset of XLRS in 3-month-old monozygotic twins. Fundus examination was characterized by severe bullous retinal schisis with pre-retinal and intraretinal haemorrhages. Molecular genetic analysis of the RS1 was performed and the c.288G > A (p. Trp96Ter) mutation was detected in both patients.ConclusionsEarly onset XLRS is associated with a more progressive form of the disease, characterized by large bullous peripheral schisis involving the posterior pole, vascular abnormalities and haemorrhages. The availability of specific technology permitted detailed imaging of the clinical picture of unusual cases of XLRS. The possible relevance of modifying genes should be taken into consideration for the future development of XLRS gene therapy.

Full-Thickness Macular Hole Formation after Internal Limiting Membrane Peeling: Beware the "Omega Sign".

Purpose. To introduce a clinical sign on spectral domain optical coherence tomography (SDOCT), which may indicate high risk for full-thickness macular hole formation after internal limiting membrane (ILM) peeling. Methods. The preoperative SDOCT images of two patients—one with multilaminar hemorrhage from ruptured retinal artery macroaneurysm and one with serous retinal detachment and severe macular schisis from optic pit maculopathy—who developed full-thickness macular hole (FTMH) after ILM peeling were evaluated retrospectively. Results. On the preoperative SDOCT images of both patients there was a thin bridge of tissue on either side of the foveal center with an outer retinal defect. The photoreceptors were displaced laterally away from the foveal center to create an “omega-” shaped configuration of the remaining tissue. Conclusion. “Omega-” shaped configuration on SDOCT may represent a higher risk of FTMH following ILM peeling. Vitreoretinal surgeons may wish to consider this sign in the process of their surgical decision making.

Vitreo-retinal relationship and post-operative outcome of macular hole repair in eyes with high myopia.

To investigate the vitreoretinal relationship in eyes with full-thickness macular hole (FTMH) without retinal schisis or detachment. Eyes with and without high myopia were compared using slit-lamp biomicroscopy, optical coherence tomography (OCT), and intraoperative observations. Clinical records of 34 consecutive cases of FTMH without schisis or detachment in highly myopic eyes (refractive error larger than -6.0 diopters or axial length >26 mm) were retrospectively reviewed. All eyes underwent pars plana vitrectomy between 2006 and 2013. An additional 43 consecutive cases of FTMH in eyes without high myopia were also reviewed to serve as controls. All control patients underwent surgery during the same period. Ophthalmological, OCT, and intraoperative findings, and vitreoretinal interface features were documented in both groups. Anatomical closure rate and final best-corrected visual acuity (BCVA) were compared between groups. Premacular tissue was identified during surgery in 21 of 34 high myopia patients (61.8 %) and three of 43 control patients (7.0 %). The high myopia group showed two layers of premacular membranes. Two cases had a shiny, loose inner membrane, 13 cases had a tightly adherent outer membrane, and six cases had both. Only a tightly adherent membrane was found in controls. In the high myopia group, 11 of 21 eyes (52.4 %) did not have a preretinal membrane identified preoperatively. Anatomical closure was achieved in 91.2 and 95.3 % of high myopia and control patients respectively (p = 0.65). No significant intergroup difference in final BCVA was observed. Premacular tissue was found in 61.8 % of eyes with high myopia and FTMH without retinal schisis or detachment. Anatomically successful surgical closure in high myopia patients was achieved at a rate comparable to their idiopathic counterparts.