Ultra-Wide-Field Optical Coherence Tomography and Gaussian Curvature to Assess Macular and Paravascular Retinoschisis in High Myopia.

PURPOSE: To evaluate the severity and related factors of macular retinoschisis (MRS) and paravascular retinoschisis (PVRS) in high myopia (HM) using ultra-wide-field optical coherence tomography (UWF-OCT) and a novel Gaussian curvature (K). DESIGN: A cross-sectional study. METHODS: Patients diagnosed with HM in Peking Union Medical College Hospital were recruited between January 2022 and November 2022. The presence and severity of retinoschisis, along with the three highest K values, were assessed using UWF-OCT and en face images. Logistic regressions were employed to identify factors associated with MRS, PVRS, and the severity of retinoschisis in the 24 × 20 mm scan region. RESULTS: A total of 108 HM eyes from 55 patients were recruited. The highest Gaussian curvature (K1) was predominantly found in the vascular arcade (43, 40%). Multivariable logistic regression found that age and PVRS were significant risk factors for MRS occurrence (P < .05), while MRS and higher K1 were significantly associated with the presence of PVRS in HM patients (P < .05). The axial length (AL) and spherical equivalent were associated with the severity of MRS, while AL and K1 values were associated with the severity of retinoschisis in the 24 × 20 mm scan region (P < .05). CONCLUSIONS: An association existed between large Gaussian curvature and the presence of MRS and PVRS, as well as the severity of retinoschisis in a wide field of view. UWF-OCT, which enables visualization of the central and peripheral retinal areas, holds promise as an imaging technique for the early detection of extrafoveal retinoschisis.

Optical coherence tomographic findings of glaucomatous eyes with papillomacular retinoschisis.

OBJECTIVES: 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). METHODS: 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. RESULTS: 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 fibre layer schisis on 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). CONCLUSION: 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.

Optical Coherence Tomography Feature of Retinoschisis in CRB1-Associated Maculopathy.

This case report describes 2 individuals with hyperreflective columns in the outer nuclear layer observed on optical coherence tomography and possible implications for CRB1-associated maculopathy.

Segmentation of retinal detachment and retinoschisis in OCT images based on complementary multi-class segmentation networks.

Retinal detachment (RD) and retinoschisis (RS) are the main complications leading to vision loss in high myopia. Accurate segmentation of RD and RS, including its subcategories (outer, middle, and inner retinoschisis) in optical coherence tomography images is of great clinical significance in the diagnosis and management of high myopia. For this multi-class segmentation task, we propose a novel framework named complementary multi-class segmentation networks. Based on domain knowledge, a three-class segmentation path (TSP) and a five-class segmentation path (FSP) are designed, and their outputs are integrated through additional decision fusion layers to achieve improved segmentation in a complementary manner. In TSP, a cross-fusion global feature module is adopted to achieve global receptive field. In FSP, a novel three-dimensional contextual information perception module is proposed to capture long-range contexts, and a classification branch is designed to provide useful features for segmentation. A new category loss is also proposed in FSP to help better identify the lesion categories. Experiment results show that the proposed method achieves superior performance for joint segmentation of RD and the three subcategories of RS, with an average Dice coefficient of 84.83%.

X-linked retinoschisis: OCT-angiography in two brothers from a four-generation family with a p.Arg197Cys pathogenic variant in the RS1 gene.

INTRODUCTION: X-linked juvenile retinoschisis (XLRS) is a rare genetic disease causing retinal splitting. The aim of this work is to describe the optical coherence tomography angiography (OCTA) features in two brothers affected by an hemizygous c.589C>T (p.Arg197Cys) pathogenic variant in exon 6 of the RS1 gene. CASE DECRIPTION: Each patient underwent a complete ophthalmological examination, including measurement of best corrected visual acuity, slit-lamp biomicroscopy, fundus color photographs, fundus autofluorescence and infrared imaging, fluorescein angiography, spectral-domain optical coherence tomography (SD-OCT) and optical coherence tomography angiography (OCTA). En Face SD-OCT and OCTA revealed the presence of two different pattern of cystic lesions, fusiform and oval, disposed on a petaloid or irregular manner in the perifoveolar area. A widening of the foveal avascular zone with interruption of the vascular arcades was clearly evident. Furthermore, a capillary drop-out was observed in the superficial plexus of the central retina, other than capillary ectasia in the deep capillary plexus. Straight gray lines were visible among the cysts. CONCLUSIONS: OCTA data herein described allow a detailed morphological evaluation of XLRS other than a quantitative assessment of retinal capillary flow in this disease. The retinal alterations that we have reported may be helpful to better understand this rare condition with OCTA being a sensitive technique to monitor the evolution of the disease and the response to potential future therapeutic approaches aimed to restore vision.

Specific Changes in OCT Imaging Associated with a Novel Mutation of the RS1 Gene in X-Linked Retinoschisis. / Spezifische OCT-Veränderungen bei einer neuen Mutation im RS1-Gen bei X-chromosomal-rezessiver Retinoschisis.

X-linked retinoschisis (XLRS) is a rare vitreoretinal dystrophy caused by molecular genetic changes in the RS1 gene. It usually manifests itself at a young age with symmetrical splitting within different layers of the retina and leads to a significant reduction in visual acuity. Correct diagnosis at older ages is difficult due to nonspecific changes in OCT scans. We report the morphological changes in OCT scans at different stages of life in a family with XLRS and a novel mutation in the RS1 gene. Our 78-year-old index patient presented with visual disturbances that he had experienced since his childhood. After a detailed anamnesis, complete clinical examination and measurement with SD-OCT, we performed germline genetic testing using whole blood DNA on the index patient, his clinically unaffected daughter and her clinically affected son. The OCT examination of the index patient showed nonspecific atrophic macular changes on both sides. A fundoscopy of the 8-year-old grandson showed the typical macular star pattern. The OCT scan showed the typical retinoschisis of the macula. The genetic analysis revealed the previously undescribed pathogenic variant c.487T>G; p.Trp163Gly in the RS1 gene in all 3 patients. The typical fundus image and OCT pattern, which are absent in the 78-year-old patient, are also present in childhood with the novel RS1 mutation. Our case shows that even with nonspecific changes in the OCT scans, a detailed family history can provide important information on X-linked recessive inheritance and thus for an appropriate molecular genetic diagnosis, so that rare retinal diseases can be diagnosed even at an advanced age.

Retinosquisis ligada al X en homocigosis: A propósito de un caso / X-linked retinoschisis: About a case

La retinosquisis ligada al cromosoma X (RLX) es una causa de degeneración retiniana que afecta a varones en edades tempranas. Los desórdenes ligados al cromosoma X clásicamente afectan sólo a varones. Presentamos el caso de una mujer de 10 años de edad, con el espectro completo de la patología. MAVC 0.7 AO. En la tomografía de coherencia óptica (TCO) presentaba alteración foveal bilateral de aspecto quístico. En el estudio genético se identifica la variante c.644A>T (p.Glu215Gly) en el gen RS1 en homocigosis, asociada a retinosquisis con modo de herencia recesiva ligada al X. La RXL es una condición que tiene una gran variedad en la severidad de la enfermedad y no existe correlación entre esta última y la progresión de la patología. La enfermedad ha sido descrita en un limitado número de mujeres principalmente en familias con alto grado de consanguinidad (AU)

X-linked retinoschisis (XLR) is a cause of retinal degeneration that affects males at an early age. X-linked disorders classically affect only males. We present the case of a 10-year-old female with the full spectrum of the pathology. BCVA 0.7 OU. Optical coherence tomography (OCT) showed bilateral foveal alteration with cystic appearance. The genetic study identified the variant c.644A>T (p.Glu215Gly) in the RS1 gene in homozygosis, associated with retinoschisis with X-linked recessive mode of inheritance. XLR is a condition that has a great variety in the severity of the disease and there is no correlation between the latter and the progression of the pathology. The disease has been described in a limited number of females mainly in families with high degree of consanguinity (AU)

X-linked retinoschisis: About a case.

X-linked retinoschisis (XLR) is a cause of retinal degeneration that affects males at an early age. X-linked disorders classically affect only males. We present the case of a 10-year-old female with the full spectrum of the pathology. BCVA 0.7 OU. Optical coherence tomography (OCT) showed bilateral foveal alteration with cystic appearance. The genetic study identified the variant c.644A>T (p.Glu215Gly) in the RS1 gene in homozygosis, associated with retinoschisis with X-linked recessive mode of inheritance. XLR is a condition that has a great variety in the severity of the disease and there is no correlation between the latter and the progression of the pathology. The disease has been described in a limited number of females mainly in families with high degree of consanguinity.

MACULAR MICROVASCULATURE IN X-LINKED RETINOSCHISIS: Optical Coherence Tomography and Optical Coherence Tomography Angiography Study.

PURPOSE: The study aimed to evaluate the macular microvasculature of X-linked retinoschisis (XLRS) and identify correlations between vascular changes, structural changes, and functional outcome. METHODS: Genetically confirmed XLRS patients and heathy control subjects underwent complete ophthalmic examination, dilated funduscopic examination, optical coherence tomography, and optical coherence tomography angiography. Schisis distribution, outer plexiform layer discontinuation, photoreceptor layer thickness, and photoreceptor outer segment length were reviewed using optical coherence tomography. Vascular flow density and foveal thickness at foveal and parafoveal area were measured using optical coherence tomography angiography. RESULTS: A total of 17 eyes of 9 XLRS patients and 22 eyes of 11 control subjects were examined from July 2018 to August 2020. Flow density in the deep capillary plexus at foveal and parafoveal area decreased in XLRS patients compared with control subjects (P = 0.014 and 0.001, respectively), whereas foveal avascular zone area and perimeter remarkably increased (P = 0.015 and 0.001, respectively). Although outer and total retinal layers were significantly thicker in XLRS, inner retinal layer was thinner with reduced photoreceptor layer thickness and shortened photoreceptor outer segment length (P < 0.001 and P < 0.001, respectively). Foveal flow loss in deep capillary plexus, foveal avascular zone enlargement, thinner inner retina and photoreceptor layer thickness, and shortened photoreceptor outer segment length correlated with best-corrected visual acuity. CONCLUSION: X-linked retinoschisis eyes exhibit decreased flow density in the deep capillary plexus and variable foveal avascular zone with enlarged perimeter. Structural deterioration of the photoreceptor best reflects the degenerative changes, whereas microvascular alteration shows considerable correlation with functional outcome in XLRS.

Stellate nonhereditary idiopathic foveomacular retinoschisis and an approach to the differential diagnosis of macular star.

PURPOSE OF REVIEW: This review aims to introduce stellate nonhereditary idiopathic foveomacular retinoschisis (SNIFR) and its differential diagnosis. We summarize findings from case reports and series published in the last few years on the clinical and imaging findings in SNIFR. RECENT FINDINGS: SNIFR presents as either a unilateral or bilateral macular star on fundus examination without clinical or imaging evidence of exudation or frank vitreomacular traction. optical coherence tomography (OCT) imaging shows schisis cavities in the Henle fibre and outer plexiform layers that correspond to the stellate en face findings. Visual acuity is usually minimally affected, and the presence of significant vision loss should prompt high clinical suspicion for alternate diagnoses. SUMMARY: SNIFR is a recently characterized clinical entity that serves as an important addition to the differential diagnosis of a macular star. It is a diagnosis of exclusion and should be distinguished from other causes of macular star such as neuroretinitis, vitreomacular traction, ocular manifestations of malignant hypertension, congenital juvenile X-linked macular schisis, myopic maculopathy, optic pit maculopathy, nicotinic acid maculopathy or taxane maculopathy among others.

Contrast Sensitivity and Equivalent Intrinsic Noise in X-Linked Retinoschisis.

Purpose: To define relationships among contrast sensitivity (CS), equivalent intrinsic noise (Neq; a measure of noise within the visual pathway), and retinal thickness in X-linked retinoschisis (XLRS). Methods: Nine XLRS and 10 visually-normal subjects participated. CS was measured in the presence and absence of luminance noise. These data were fit with a standard model to estimate Neq and sampling efficiency (an estimate of the ability to use stimulus information). Optical coherence tomography images were obtained to quantify outer nuclear layer (ONL+) and outer segment (OS+) thickness. A linear structure-function model was used to describe the relationship between CS and the product of ONL+ and OS+ thickness. Results: CS in the absence of noise (CS0) for the XLRS subjects ranged from normal to as much as 1.5× below the lower limit of normal. Four of the nine subjects with XLRS had abnormally high Neq, whereas two others had sampling efficiency that was borderline abnormal. Log CS0 for the subjects with XLRS was correlated significantly with log Neq (r = -0.78, P = 0.01), but not with log efficiency (r = 0.19, P = 0.63). CS0 and Neq, but not efficiency, conformed to the linear ONL+ × OS+ structure-function model. Conclusions: The XLRS subjects in this study who had elevated internal noise had abnormally low CS; both internal noise and CS fell within the predicted limits of a structure-function model. Translational Relevance: Internal noise measurements can provide insight into a source of CS loss in some individuals with XLRS.

The electrophysiological features of X-linked juvenile retinoschisis in a young male: a case report.

This case report describes the detailed electrophysiological features and the corresponding relationship with the structural changes in a case of X-linked juvenile retinoschisis (XLRS). A 25-year-old male presented with a history of several years of decreased visual acuity in both eyes. The best corrected visual acuity was 20/200 in oculus dexter (OD) and 20/80 in oculus sinister. Retinoschisis was found in the macula by optical coherence tomography, which was more severe in OD. Electroretinogram revealed a similar electronegative waveform in both eyes. Visual evoked potential detected a reduced amplitude and delayed phase in P100-wave, which was worse in OD. The patient was diagnosed as XLRS and advised to undergo continuous medical observation. He was followed up for the next year, with no significant change in retinal function and structure being observed. These current findings suggest that electrophysiology permits the detailed analysis of the clinical picture of XLRS and helps to gain a deeper understanding of the pathogenesis.

Optical coherence tomography analyses based segmentation and relative intensity evaluation of outer retinal layers in patients affected with X-linked juvenile retinoschisis.

PURPOSE: We aim to provide a description of the optical coherence tomography findings in the outer macula hyperreflective bands of our patients with X-linked juvenile retinoschisis. Also to categorize these changes and to quantitatively and qualitatively correlate their reflectivity levels with visual function. METHODS: We manually segmented the borders, and depicted relative intensity of the inner segment ellipsoid band, and quantified the volume of edema. RESULTS: The average relative intensity of the ellipsoid zone, ISe band, for the control subject was 14.864, our patient's, with the mild disease was, 28.238 and 34.943 in OD and OS, respectively, and for the patient with severe disease was, 44.442 and 40.154 for OD and OS respectively. Thresholding showed a significant difference in edema volume between mild disease (~20%), and severe form (~50%). Relative intensity analyses are indicative of homogeneity variability. High standard deviation value illustrates the high dispersion of data values and is a safe marker of ellipsoid zone homogeneity. CONCLUSION: Data suggested that both anatomic and functional characteristic of outer macula hyperreflective bands were notably associated with the pathogenesis cascade in the photoreceptor cells. External limiting membrane line disruption is initiated by the volume of macular edema and followed by disorganization of the three lines in a stepwise pattern, first at the ellipsoid zone, followed by the cone outer segment tips zone and finally at the External limiting membrane.

STELLATE UNILATERAL NONHEREDITARY IDIOPATHIC FOVEOMACULAR RETINOSCHISIS: A MULTIMODAL IMAGING ANALYSIS AND CASE REPORT.

PURPOSE: To describe a case of stellate nonhereditary idiopathic foveomacular retinoschisis in a middle-aged woman and to depict the classic retinal fluorangiography (FA) findings, structural characteristics using macular spectral-domain optical coherence tomography angiographic data of vascular and perfusion density using optical coherence tomography angiography (OCT-A), and standardized multifocal electroretinography (mfERG) findings. METHODS: This is a case report of a 53-year-old ophthalmologist who was incidentally diagnosed with unilateral idiopathic foveomacular retinoschisis. Stellate nonhereditary idiopathic foveomacular retinoschisis is defined as a foveal elevation without alternative explanation for retinoschisis. FA, spectral-domain optical coherence tomography, optical coherence tomography angiography, and multifocal electroretinography were used as tools to obtain an integral multimodal diagnosis of this entity. RESULTS: Clinical examination and multimodal imaging were able to detect unilateral idiopathic retinoschisis, revealing a stellate pattern of retinal concentric cysts with minimal changes in vascular and perfusion density metrics and confirming the absence of bridging vessels. There were consistent FA findings, with almost unaltered foveal changes. Multifocal electroretinography depicted a subtle reduction in dark-adapted a-wave and b-wave amplitudes. CONCLUSION: Improvements and innovations in technology for ophthalmic diagnosis have revolutionized our capacity for diagnostic decision-making. Spectral-domain optical coherence tomography and optical coherence tomography angiography are useful tools for diagnosis and follow-up assessment. This fortuitous case gives a window on the importance of a routine specialized ophthalmic examination and how multimodal imaging can depict important and specific findings not evident from a clinical point of view. The subtle but important changes observed in optical coherence tomography angiography and multifocal electroretinography will help better define this clinical entity.

[A case of microvascular anomalies in myopic retinoschisis].

It is a case found during routine reexamination one year after implantable Collamer lens (ICL) implantation. The patient had no complaints. The naked eye visual acuity of the left eye was 1.0, and abnormal blood vessels were seen in the supranasal retina. After fluorescein fundus angiography and sweep source OCTA, it was finally diagnosed as retinoschisis with microvascular anomalies of the left eye. This case suggests that the fundus of patients with high myopia without complaint should also be examined in detail and comprehensively. In addition to paying attention to peripheral retinopathy, the posterior pole and middle peripheral retina should be carefully examined, especially the areas that cannot be covered by conventional OCT.(Chin J Ophthalmol, 2021, 57: 944-945).