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The dark-adapted human electroretinogram (ERG) response to a standard bright flash includes a negative-going a-wave followed by a positive-going b-wave that crosses the baseline. An electronegative waveform (or negative ERG) results when the b-wave is selectively reduced such that the ERG fails to cross the baseline following the a-wave. In the context of a normally sized a-wave, it indicates a site of retinal dysfunction occurring after phototransduction (commonly at the photoreceptor to bipolar cell synapse). This is an important finding. In genetic disease, the pattern of ERG abnormality can point to variants in a small group of genes (frequently those associated with congenital stationary night blindness and X-linked retinoschisis, but negative ERGs can also be seen in other conditions including syndromic disease). In acquired disease, there are numerous causes, but specific features may point to melanoma-associated retinopathy (MAR). In some cases, the visual symptoms precede the diagnosis of the melanoma and so the ERG findings can initiate investigations facilitating early detection and treatment. Negative ERGs can occur in other paraneoplastic conditions, and in a range of other diseases. This review will outline the physiological basis for the negative ERG, report prevalences in the literature from different cohorts, discuss the range of causes, displaying examples of a number of ERG phenotypes, highlight features of a clinical approach to patients, and briefly discuss further insights relating to current flows shaping the a-wave trough and from single-cell transcriptome analysis.摘要: 负性视网膜电图: 遗传及获得性疾病的病因、诊断方法和生理解析摘要暗适应视网膜电图 (ERG) 对标准闪光反应包括一个负向a波和一个穿过基线的正向b波。当b波被选择性地降低, 以致ERG不能穿过a波之后的基线时, 就会产生负性波 (或负性ERG) 。在正常大小的a波背景下, 它意味着视网膜功能障碍发生在光转导之后 (通常在光感受器到双极细胞的突触部位) 。这是一个重要发现。在遗传性疾病中, ERG的负性异常改变可以指向一小群基因的变异 (通常与先天性静止性夜盲和X连锁视网膜劈裂有关, 但在其他综合征性的疾病中也可以看到负性ERG) 。在获得性疾病中, 有许多原因可以引起负性ERG, 但具体特征可能与黑色素瘤相关视网膜病变有关 (MAR) 。在一些病例中, 视觉症状的发现早于黑色素瘤的诊断, 因此ERG的发现可以尽快启动诊断和治疗。负性ERGs可在其他副肿瘤性疾病和其他一系列疾病中出现。本文将概述负性ERG的生理学基础、报告不同队列文献中的患病率、讨论病因的种类范围、展示一些典型ERG的表型病例以及突出临床治疗方法的特点, 并简要讨论了有关形成a波谷的电流和单细胞转录组分析的更多见解。.

Purpose To present the different clinical manifestations of rhino-orbital mucormycosis (ROM) co-infection in severe COVID-19 patients. Study design Prospective observational clinical study Methods Among 32,814 patients hospitalized with the diagnosis of COVID-19 between March 2020 and December 2020 in our center, eleven microbiologically confirmed ROM co-infection cases in severe COVID-19 patients were evaluated. Results There were nine men and two women with a mean age of 73.1 ± 7.7 years. Eight patients had uncontrolled type 2 diabetes with a mean diagnosis duration of 12.1 ± 4.4 years. All patients had COVID-19-associated acute respiratory distress syndrome and received corticosteroids. The mean time interval between COVID-19 diagnosis and ROM diagnosis was 14.4 ± 4.3 days. Seven patients (63.6%) had orbital apex syndrome, and four patients (36.4%) presented with orbital cellulitis. Endophthalmitis was detected in 54.5% of patients, and two of these patients developed retinoschisis. CT scan/MRI revealed sino-orbital involvement in all patients, and three of these had cerebral involvement at initial presentation. All patients received intravenous and retrobulbar liposomal amphotericin B and had undergone radical debridement of involved sinuses. Intravitreal liposomal amphotericin B injected in patients with endophthalmitis. Despite all measures, 63.6% of patients expired. Conclusions Severe COVID-19 is associated with a significant incidence of ROM with higher mortality rates due to immune dysregulation and the widespread use of steroids. Physicians should be aware of the possibility of this infection in patients with COVID-19. An aggressive multidisciplinary approach can help to reduce mortality. Supplementary Information The online version contains supplementary material available at 10.1007/s10384-021-00845-5.

To compare the visual and anatomical outcomes of two different treatment strategies (non-internal limiting membrane (ILM) peeling and fovea-sparing ILM peeling) for retinoschisis with foveal detachment (FD) in highly myopic eyes. A retrospective cohort study. Ninety-five eyes from 92 highly myopic patients with retinoschisis with FD were divided into two groups, including 44 eyes from 43 patients who received 23-gauge, 3-port vitrectomy without ILM peeling (group A) and 51 eyes from 49 patients who received vitrectomy with fovea-sparing ILM peeling (group B). All eyes also underwent cataract surgery. There were no significant differences between the two groups in terms of sex, age, diopters, axial length (AL), or central foveal thickness (CFT) before surgery (P > 0.05). One month after surgery, foveoschisis and FD were resolved in 74.47% of the eyes in group B and in only 12.50% of those in group A. Six months after surgery, foveoschisis and FD were resolved in 96.08% of the eyes in group B and in only 72.73% of those in group A (P

Der haufigen Begleiterscheinung einer Makulopathie bei Grubenpapille scheint ein pathogenetisch nicht abschliesend ergrundeter Flussigkeitsaustausch zwischen Papille und Makula zugrunde zu liegen. Ein chirurgisches Vorgehen durch Vitrektomie mit Erzeugung einer Barriere zwischen Makula und Grubenpapille beispielsweise mittels Endolaser oder Skleraflap ist moglich. Daneben stellt die hier im Detail dargestellte partielle Retinafensterung eine Alternative dar, durch die Flussigkeit von der Grubenpapille in den Glaskorperraum geleitet wird. Die vollstandige Resorption der sub- und intraretinalen Flussigkeit kann innerhalb des ersten postoperativen Jahres erwartet werden.

This commentary article is co-authored by an adult patient with X-linked retinoschisis and two ophthalmologists affiliated with the University Hospitals Birmingham NHS Foundation Trust. It describes the patient's experiences of sight loss and the diagnosis and management of X-linked retinoschisis. The treating ophthalmologists then draw upon these experiences and discuss the disease and associated sight loss in a wider context.

To investigate retinal function and visual outcomes in infants with retinal hemorrhages due to non-accidental trauma (NAT). This is a retrospective review of full-field or multifocal electroretinogram (ERG) recordings, visual acuity in log minimum angle of resolution (logMAR), clinical status, and neuroimaging. Multifocal ERGs from the central 40° were compared to corresponding fundus imaging. Visual acuity was measured by Teller cards at follow-up. ERGs were compared to controls recorded under anesthesia. Sixteen children met inclusion criteria (14 recorded during the acute phase and 2 during long-term follow-up). During the acute phase, ERGs (n = 4 full field; n = 10 multifocal ERG) showed abnormal amplitude, latency, or both in at least one eye. Ten subjects had significantly reduced responses in both eyes, 3 of which had an ERG dominated by a negative waveform (absent b-wave or P1). The remaining six subjects had responses in one eye that were near normal (≥ 50% of controls). ERGs were sometimes abnormal in local areas without hemorrhage. ERGs could be preserved in local areas adjacent to traumatic retinoschisis. Two subjects with reduced visual acuity had belated ERGs: One had an abnormal macular ERG and the other had a normal macular ERG implying cortical visual impairment. At follow-up, 10 of 14 subjects had significant visual acuity loss (≥ 0.7 age-corrected logMAR); four subjects had mild vision loss (≤ 0.5 age-corrected logMAR). Visual acuity outcome was not reliably associated with the fundus appearance in the acute phase. All subjects with a negative ERG waveform had severe vision loss on follow-up. Retinal dysfunction was common during the acute phase of NAT. A near normal appearing fundus did not imply normal retinal function, and ERG abnormality did not always predict a poor visual acuity outcome. However, a negative ERG waveform was associated severe visual acuity loss. Potential artifacts of retinal hemorrhages and anesthesia could not fully account for multifocal ERG abnormalities. Retinal function can be preserved in areas adjacent to traumatic retinoschisis.

Diurnal variations in foveal thickness have been reported in several ocular pathologies including X-linked retinoschisis (XLRS), but its underlying mechanism is poorly understood. Rods are active under scotopic conditions with high metabolic demand, and its decrease may have positive effect on metabolic activity and macular thickness. The purpose of this study is to evaluate whether exposure to light and diurnal variation influence macular thickness in XLRS patients. Five patients with clinical suspicion of XLRS underwent RS1 gene sequencing and optical coherence tomography measurements at three consecutive times: morning following sleep in a dark room, morning following sleep in an illuminated room, and late afternoon following sleep in an illuminated room. Central macular thickness (CMT) was compared between measurements, and molecular analysis was performed. Five RS1 mutations were identified: p.Gly140Arg, p.Arg141Cys, p.Gly109Glu, p.Pro193Leu, and p.Arg200His in patients 1–5, respectively. Two patients (4–5) had atrophied macula and were excluded from macular thickness variation analysis. A significant decrease in CMT between morning and afternoon measurements was observed in all patients (1–3: mean: 455.0 ± 32 μm to 342.17 ± 39 μm, 25%). Morning measurements following sleep in an illuminated room show a CMT reduction in all eyes of all patients with a mean reduction of 113 μm (mean: 547.17 ± 105 μm to 455.0 ± 32 μm, 17%). Among XLRS patients, CMT decreased at the afternoon compared to the morning of the same day and may be reduced following sleep in an illuminated room. These results help shed light on the pathophysiologic process underlying intraretinal fluid accumulation involved with the disease.

To compare the outcomes of vitrectomy with fovea-sparing internal limiting membrane peeling (FSIP) and complete internal limiting membrane peeling (ILMP) for myopic traction maculopathy (MTM). A retrospective, observational study. In this study, we included 22 eyes of 21 consecutive patients who underwent vitrectomy with FSIP or ILMP for MTM and were monitored for at least 6 months. Eleven eyes were treated with FSIP, and 11, with ILMP. With FSIP, the postoperative best-corrected visual acuity (BCVA) significantly improved from 0.61 (20/82) to 0.34 (20/44; P = .009) logarithm of the minimum angle of resolution (logMAR) units. With ILMP, the postoperative BCVA improved from 0.65 (20/89) to 0.52 (20/66) logMAR units, but was not significant (P = .106). The postoperative final central foveal thickness (CFT) reduced significantly after FSIP (from 557.6 to 128.8 µm, P = .003) and ILMP (from 547.3 to 130.3 µm, P = .008). The postoperative incidence of a macular hole was 0% (0/11 eyes) with FSIP and 27.3% (3/11 eyes) with ILMP. All patients with a macular hole had foveal detachment in association with a thin fovea preoperatively. With ILMP, postoperative BCVA with a macular hole worsened by −3.5 letters; in contrast, postoperative BCVA without a macular hole improved by +10.5 letters. With FSIP, postoperative BCVA without a macular hole significantly improved by +13.5 letters (P = .009). FSIP resulted in significant improvement in MTM and prevented postoperative macular hole development.

The dark-adapted human electroretinogram (ERG) response to a standard bright flash includes a negative-going a-wave followed by a positive-going b-wave that crosses the baseline. An electronegative waveform (or negative ERG) results when the b-wave is selectively reduced such that the ERG fails to cross the baseline following the a-wave. In the context of a normally sized a-wave, it indicates a site of retinal dysfunction occurring after phototransduction (commonly at the photoreceptor to bipolar cell synapse). This is an important finding. In genetic disease, the pattern of ERG abnormality can point to variants in a small group of genes (frequently those associated with congenital stationary night blindness and X-linked retinoschisis, but negative ERGs can also be seen in other conditions including syndromic disease). In acquired disease, there are numerous causes, but specific features may point to melanoma-associated retinopathy (MAR). In some cases, the visual symptoms precede the diagnosis of the melanoma and so the ERG findings can initiate investigations facilitating early detection and treatment. Negative ERGs can occur in other paraneoplastic conditions, and in a range of other diseases. This review will outline the physiological basis for the negative ERG, report prevalences in the literature from different cohorts, discuss the range of causes, displaying examples of a number of ERG phenotypes, highlight features of a clinical approach to patients, and briefly discuss further insights relating to current flows shaping the a-wave trough and from single-cell transcriptome analysis.

The purpose of this study was to determine the relationship between a posterior vitreous detachment (PVD) and retinoschisis (RS) in 73 highly myopic (HM) young patients age 16.4 ± 6.9 years and 24 non-HM children age 8.4 ± 1.5 years. The presence of the paravascular retinal abnormalities was determined in the images obtained by a ultra-widefield OCT (UWF OCT) instrument with an image field of 23 × 20 mm. The results showed that a partial PVD was detected in 15 (21%) of the HM patients, and the number increased significantly with increasing age (P = 0.02). PVDs of any type were not found in the non-HM eyes. The number of microvascular folds also increased with age in the HM patients (P = 0.03). Medium-reflective columnar tissues were present between the detached vitreous and inner retinal surface in 4 (5%) eyes of the HM patients. Myopic RS was found in 3 (4%) HM patients in the paravascular area but not in the macular area. These results suggest that early partial PVD may play a role in pathological and proliferative vitreous changes of HM eyes. An intense vitreoretinal traction with bridging tissues may cause the various paravascular retinal abnormalities. In HM eyes, paravascular RS is already present at an early age which may progress to macular RS with aging.

To investigate the associations between macular complications and demographic, clinical, and optical coherence tomography characteristics (OCT) of highly myopic eyes with a dome-shaped macula (DSM).We retrospectively analyzed the findings of 90 patients (167 eyes) with DSM who had vertical and horizontal OCT scans between January 2011 and June 2018. Demographic data, clinical characteristics, and OCT-derived morphologic parameters were determined, and the associations of these parameters with macular complications were evaluated.Among 167 eyes, the following patterns were observed: horizontally oriented DSM (71%), symmetric DSM (27%), and vertically oriented DSM (2%). Complications or abnormalities involving the macular area were detected by OCT in 63% (106/167) of the eyes. Specific complications were as follows: choroidal neovascularization (CNV) (37.1%), macular retinoschisis (9.0%), serous retinal detachment (RD) (7.8%), epiretinal membrane (4.2%), lamellar macular hole (3.0%), and macular hole (2.4%). The eyes with CNV had thinner choroid (P 0.001) and lower macular bulge height (P = 0.04). The eyes with serous RD had thicker choroid (P 0.001) and higher macular bulge height (P 0.001). Serous RD was significantly more common when the macular height was greater than 250 μm (P = 0.001) and if the DSM pattern was vertical (P 0.001).A greater bulge height and thicker choroid in highly myopic eyes with DSM may be protective against the development of myopic CNV. A thicker choroid, a higher macular bulge ( 250 μm), and a vertical DSM pattern are associated with a risk of developing serous RD.

OBJECTIVES: The objective of this study is to evaluate the progression and new onset of macular retinoschisis (MRS) in the patients treated with intravitreal Conbercept injections for myopic choroidal neovascularization (mCNV). METHODS: Post-hoc analysis of 160 mCNV patients included in SHINY study was performed to evaluate the impact of Conbercept injection on MRS in patients with mCNV undergoing intravitreal Conbercept injections. The patients were 3:1 randomized to the study group (three loading dose and thereafter pro re nata [PRN]) and the control group (3 months’ sham injection, then one Conbercept injection at month 4 and thereafter PRN). MRS was assessed with optical coherence tomography by masked graders. RESULTS: At baseline, 28 of 122 eyes in study group and 10 of 38 eyes in control group had MRS. At month 3, two patients showed MRS progression and one patient had new onset MRS in study group. No MRS progression nor new onset MRS was found in the control group. At final visit, the cumulative incidence of MRS was 1.3% (2/160). Both Spearman’s correlation and multiple logistic regression demonstrated no association between the progression and new onset of MRS and intravitreal injection frequency (correlation coefficient = 0.017, P = 0.851 and odds ratio = 0.996, P = 0.982). In addition, baseline vitreoretinal adhesion was the most likely potential risk factor resulting in MRS progression (odds ratio = 4.566, P = 0.027). Furthermore, MRS progression was more likely to take place in outer retinal layers. CONCLUSIONS: The progression and new onset of MRS was not associated with the frequency of intravitreal Conbercept injections.

To determine the incidence and characteristics of intrachoroidal cavitation (ICC) in the eyes with high myopia. In this retrospective, non-interventional, comparative study, we analysed the case records of 108 eyes with and without pathological myopia (PM). PM was defined as having a refractive error (spherical equivalent) of ≥ − 6.0 D or axial length ≥ 26 mm. The presence of other features like posterior vitreous detachment, myopic traction maculopathy, posterior staphyloma, focal/patchy chorioretinal atrophy (CRA), choroidal neovascularisation and retinoschisis was looked for on OCT. The association of these features with ICC was analysed using statistical tests. In this study, 38 out of 68 eyes with PM and 4 out of 40 eyes with non-PM showed the bowing of the posterior sclera and the presence of ICC. On statistical analysis with Chi-square test and multiple variable linear regression analysis tests, it was identified that the presence of focal/patchy CRA (p = 0.005) and intrascleral vessels (p = 0.018) in and around the cavitation was important features noted in eyes with ICC. The OCT features of macular and peripapillary ICC were similar. The transudation of fluid from the dilated intrascleral vessels in and around the ICC could be one other mechanism responsible for the development of ICC. ICC is seen in 55.8% of highly myopic eyes with the presence of focal CRA or myopic conus and/or presence of intrascleral vessels near the cavitation. These findings suggest that patchy atrophy affects the scleral contour within posterior staphyloma beyond the funduscopically identified patchy atrophy by ICC. The presence of intrascleral vessels could also contribute to the ICC development. Eyes with patchy CRA or myopic conus needs to be checked on further follow-up visits for the development of macular or peripapillary ICC.

OBJECTIVE: To evaluate the morphologic and functional outcomes of different optical coherence tomography (OCT) patterns of myopic foveoschisis after vitrectomy with Inner Limiting Membrane (ILM) peeling. METHODS: In this prospective non-randomised study, 62 consecutive eyes with Myopic Foveoschisis were categorised into three groups according to OCT pattern: retinoschisis type (Rt) Group (23/62), foveal detachment type (FDt) Group (20/62) and macular hole type (MHt) Group (19/62). All patients underwent 25-Gauge vitrectomy and ILM peeling. Air or gas tamponade was used. All patients were observed at month 1, 2, 4 and 6 after surgery. Main outcomes measures: surgical success as resolution of myopic foveoschisis, central retinal thickness (CRT), IS/OS junction recovery and best-corrected visual acuity (BCVA) measurement. Any complication was reported. RESULTS: In all eyes OCT showed a resolution of the retinoschisis, foveal detachment and macular hole pattern, respectively. CRT significantly decreased in all Groups (p

To develop a new classification system for vitreomacular traction (VMT) syndrome according to spectral-domain optical coherence tomography (SD-OCT) imaging and to investigate the clinical course of VMT patients. This study included 68 eyes of 68 consecutive patients who were followed with observation or treated with vitrectomy for idiopathic VMT. Eyes were classified into one of three groups according to SD-OCT findings: group A (foveal pseudocyst, which was defined as the formation of cystoid cavity located in the inner part of the central fovea along with foveal thickening), group B (parafoveal retinoschisis, which was defined as intraretinal cysts or clefts along with no apparent foveal thickening), and group C (outer retinal dehiscence at the fovea, which is sometimes accompanied by foveal thinning). The minimum required follow-up period was 1 year. Clinical course and anatomical and functional outcomes were compared among the groups. Twenty-seven eyes (39.7%) were included in group A, 22 eyes (32.4%) were included in group B, and 19 eyes (27.9%) were included in group C. Among the 24 eyes that were managed by observation, a significantly larger percentage of patients in group A (6/10 [60%]) exhibited more spontaneous resolution of VMT compared with those in groups B (9.1%) or C (0%) (P = 0.010). In the 44 eyes that were managed with vitrectomy, a significantly larger percentage of patients in group C (4/16 [25%]) experienced subsequent full-thickness macular hole development following vitrectomy compared with those in groups B (0%) or C (0%) (P = 0.014). The percentage of patients with photoreceptor inner segment/outer segment disruption was significantly reduced in group A after vitrectomy, with group C exhibiting the lowest recovery rate. Postoperatively, group A experienced a significantly better visual outcome than group C (P = 0.021). A novel configuration system offering insight into the clinical course of VMT is proposed. According to this system, anatomical and functional outcomes were favorable in group A and worse in group C.

BACKGROUND: To analyze the optical coherence tomography (OCT) characteristics and visual outcome of vitrectomy in myopic foveoschisis (MF) patients and identify prognostic factors. METHODS: This study is a retrospective clinical cohort study in tertiary care hospital. Thirty-two eyes of 32 patients who underwent MF-related vitrectomy in were investigated retrospectively. Best-corrected visual acuity (BCVA) measured at 1 year post surgery and changes in central foveal thickness (CFT) and co-existing macular pathologies, such as foveal detachment (FD), lamellar holes, and macular holes were the main outcome measures. Prognostic factors were identified using multivariate linear regression analysis. RESULTS: Average BCVA (in logarithm of the minimum angle of resolution) and mean CFT had improved from 0.46 ± 0.06 to 0.37 ± 0.07 (P = 0.089) and from 485.72 ± 164.69 to 341.71 ± 109.70 (P

Mutations in the RS1 gene are known to cause retinoschisis, an X-linked hereditary retinal degeneration. Here, we present a case of atypical retinoschisis with clinical findings of retinoschisis and retinitis pigmentosa. This report is an observational case report. The detailed ophthalmological examinations included visual field determination, multimodal imaging and electrophysiological recordings. Targeted next-generation sequencing of a retinal disease gene panel was performed. The 55-year-old male, highly hyperopic patient, presented with a best-corrected Snellen visual acuity of 20/100 in the right eye and 20/400 in the left eye. In the kinetic visual field, there was a superior scotoma, as well as a ring scotoma in the inferior hemisphere in the right eye and a concentric visual field constriction to 10° in the left eye. Funduscopy revealed marked pigmentary changes (i.e. bone spicules) in the mid-periphery bilaterally and symmetrically, as well as two small intra-retinal haemorrhages in the left eye. Full-field electroretinography recordings showed extinguished rod and cone responses. Diagnostic–genetic testing revealed a hemizygous missense mutation in the RS1 gene (c.305G > A; p.Arg102Gln) was identified. We present a case of atypical retinoschisis with clinical findings of retinitis pigmentosa.

Background/objectives Myopic traction maculopathy of the retinoschisis type is a unique entity that has been frequently overlooked in refraction correction in daily practice in myopic eyes. The objective of this study was to describe the imaging characteristics of myopic traction maculopathy (MTM) seen on optical coherence tomography angiography (OCTA) and to detect biomarkers of the associated functional changes. Subjects/methods We performed OCTA on eyes with MTM and retinoschisis (RS group; n = 27) and highly myopic eyes without MTM (control group; n = 27). The RS group was further divided into a dome-shaped macula (DSM) group and a non-DSM group. The groups were compared for morphologic and perfusion characteristics. Results The RS and control groups had comparable spherical equivalence (p = 0.65), but the RS group had worse best-corrected visual acuity (p

Background Autosomal recessive bestrophinopathy (ARB) is caused by homozygous or compound heterozygous mutations in the BEST1 gene and always accompanied with refractory angle-closure glaucoma (ACG). The exact mechanism for the pan-ocular abnormalities in ARB is still unknown and the management of ACG in these cases is challenging. Case presentation A 26-year-old patient with a novel autosomal–recessively inherited c.1 A > G variant in BEST1 diagnosed as ARB and ACG, presented as widespread vitelliform deposits in the posterior pole, retinoschisis in the macula, vitreoretinal interface abnormalities, shallow anterior chamber depth (ACD) and angle closure with uncontrolled intraocular pressure (IOP). Combined phacoemulsification, intraocular lens implantation and goniosynechialysis did not improve any clinical presentation. However, low dose transscleral cyclophotocoagulation with subsequent vitreous liquefaction effectively lowered IOP, deepened ACD, and rehabilitated retinoschisis in both eyes. Conclusions This case implied vitreous condition may play a pathogenic role in formation of retinoschisis and ACG in the patients with ARB. Treatments that induce vitreous liquefaction could be used to treat young ACG patients with ARB or other kinds of ACG to avoid vision-threatening post-operative complications.

BackgroundPeripheral Retinal neovascularization is well-described as a complication of X-linked retinoschisis, but less often observed in myopic and primary retinoschisis. We present a case of a myopic female who developed retinal microvascular abnormalities due to retinoschisis and subsequent vitreous hemorrhage which would cause severe visual damage without timely and proper treatment.Case presentationA 38-year-old highly myopic Chinese female complained of blurred vision in her right eye. Her best corrected visual acuitiy was 20/20 OU, and her refraction was − 9.00S OU. Dilated fundus examination revealed mild vitreous hemorrhage and abnormal vascular network nasal to the optic disc in her right eye. Optical Coherence Tomography (OCT)- angiography (OCTA) B-Scan showed superficial retinoschisis and well-depicted abnormal retinal microvascular network in inner retinal layer. Sectoral scatter laser photocoagulation was administered. Regression of most abnormal vessels was achieved in 1 month, but the patient experienced an unexpected episode of vitreous hemorrhage 3 months after the initial treatment, which was absorbed spontaneously in 2 weeks. Supplemental laser photocoagulation was applied and regular follow-up visit was suggested.ConclusionSuperficial retinoschisis in pathological myopia can be a driver of retinal microvascular abnormalities, possibly neovascularization, an extremely rare but severe complication which can be vision-threatening without timely and proper intervention.

Secondary macular hole(MH) formation after vitrectomy is rare and its risk factors and pathogenesis are not clearly understood. This retrospective study was conducted to identify the risk factors of this complication and assess outcomes at 2 tertiary centres. The primary outcomes were the clinical characteristics associated with development of secondary MH, which included the primary diagnosis for initial vitrectomy, features on optical coherence tomography, and adjuvant surgical techniques used during the initial surgery. Secondary outcomes included the change in best-corrected visual acuity(BCVA), clinical factors associated with the need for re-operations for MH closure and prognostic factors for the visual outcomes. Thirty-eight eyes out of 6,354 cases (incidence 0.60%) developed secondary MH after undergoing vitrectomy for various vitreoretinal disorders over an 11-year period, most frequently after initial surgery for retinal detachment(RD) (9 eyes) and secondary epiretinal membrane (6 eyes). The mean age was 57.1 years (range: 17.8–76.7), and the mean follow-up was 51.1 months (range: 6.8 to 137.6). Prior to secondary MH formation, development of ERM was the most common OCT feature (19 eyes, 50%), and no cases of cystoid macular oedema (CME) were observed. A greater proportion of eyes with secondary MH had long axial lengths (32% ≥26 mm vs 5% of eyes ≤22 mm). MH closure surgery was performed in 36 eyes and closure was achieved in 34 (success rate 94%, final BCVA 20/86), with ≥3-line visual gain in 18 cases. BCVA at MH onset (OR = 0.056, P = 0.036), BCVA at post-MH surgery month 3 (OR = 52.671, P = 0.011), and axial length ≥28 mm (OR = 28.487, P = 0.030) were associated with ≥3-line visual loss; a history of macula-off RD (OR = 27.158, P = 0.025) was associated with the need for multiple surgeries for MH closure. In conclusion, secondary MH occurs rarely but most commonly after vitrectomy for RD. Patients with axial length ≥28 mm and poor BCVA at 3 months post-operation may have limited visual prognosis; those with a history of macula-off RD may require multiple surgeries for hole closure.

PURPOSE: To investigate the long-term results of a modified technique for parafoveal multiple curvilinear internal limiting membrane (ILM) peeling to preserve the epi-foveal ILM in myopic foveoschisis surgery. METHODS: Thirty-two consecutive patients (36 eyes) were retrospectively reviewed. Patients were divided into two groups according to the extent of ILM peeled: the fovea-sparing ILM peeling group (FS) (18 eyes) and total ILM peeling group (TP) (18 eyes). Patients were followed up for at least 12 months. The main outcome measures were best-corrected visual acuity changes, evolution of macular schisis and the factors associated with the development of a full-thickness macular hole (FTMH). RESULTS: FTMH developed in 1 of 18 eyes (5.6%) in the FS group and 3 of 18 eyes (16.7%) in the TP group (P = 0.28). Long-term follow-up showed visual improvement was better in the FS group than in the TP group (0.94 vs. 0.58 logMAR). Macular schisis disappeared in 13 of 18 eyes (72.2%) in the FS group, but disappeared in 7 of 18 eyes (38.9%) in the TP group (P = 0.04). Logistic regression analysis showed that only the preoperative outer lamellar macular hole (P = 0.016) was a significant risk factor for development of postoperative FTMH. CONCLUSIONS: Fovea-sparing ILM peeling achieves a higher rate of macular schisis resolution over total peeling. A preoperative outer lamellar macular hole can be a risk factor for the development of a macular hole.

PURPOSE: To study UK practice patterns for the management of retinal detachment secondary to macular hole (MHRD) and macular retinoschisis (MRS) in pathological myopia (PM). To review the anatomical and visual outcomes of the surgically managed cases. METHODS: A prospective observational case series for the management of MHRD was undertaken in association with the British Ophthalmological Surveillance Unit (BOSU). The results were combined with retrospective data, collected by the COllaboration of British RetinAl Surgeons (COBRA), on the management of both MHRD and MRS in PM in the UK. A total of 20 cases of MHRD and 53 cases of MRS (27 surgical cases and 26 cases managed conservatively) are reported in this combined study. RESULTS: MHRD: Mean baseline best corrected visual acuity (BCVA) was 1.60 logMAR. All cases underwent pars plana vitrectomy (PPV). Mean post-operative BCVA was 1.49 logMAR (p = 0.674). The macular hole was closed in 5/20 (25%) cases, open/flat in 10/20 (50%) cases and open/elevated in 4/20 cases (20%). MRS: Mean baseline BCVA was 0.87 logMAR in the surgical group and 0.45 logMAR in the conservatively managed group (p = 0.002). All eyes that had surgical intervention underwent PPV. Mean post-operative BCVA was 0.68 logMAR (p = 0.183). Anatomical outcomes demonstrated a persistent MRS in 2/27 (7.4%) cases, partial resolution in 7/27 (25.9%) cases and complete resolution in 16/27 (59.2%) cases. CONCLUSIONS: PPV is the only surgical procedure performed for the management of MHRD and MRS amongst the study participants. Success rates and visual outcomes are limited for MHRD and consistent with the current literature for MRS.

The International Society for Clinical Electrophysiology of Vision (ISCEV) standard for full-field electroretinography (ERG) describes a minimum procedure, but encourages more extensive testing. This ISCEV extended protocol describes an extension to the ERG standard, namely the photopic On-Off ERG, and outlines common clinical applications. A light stimulus duration of 150-200 ms is used in the presence of a rod-suppressing background to elicit cone-driven On- and Off-system ERG components. The On-response occurs after the stimulus onset and has a negative a-wave and positive b-wave. The Off d-wave is a positive component evoked by stimulus offset. Common diagnoses that may benefit from additional photopic On-Off ERG testing include retinal dystrophies and retinal disorders that cause dysfunction at a level that is post-phototransduction or post-receptoral. On-Off ERGs assess the relative involvement of On- and Off-systems and may be of use in the diagnosis of disorders such as complete and incomplete congenital stationary night blindness (complete and incomplete CSNB), melanoma-associated retinopathy, and some forms of autoimmune retinopathy. The photopic On-Off ERGs may also be useful in X-linked retinoschisis, Batten disease, Duchenne muscular dystrophy, spinocerebellar degeneration, quinine toxicity, and other retinal disorders.

PURPOSE: To describe the principle characteristics of combined hamartoma of the retina and retinal pigment epithelium (‘combined harmatoma’) on MultiColor(TM) imaging and evaluate its role as a diagnostic and management tool. METHODS: Retrospective, observational case series comprising three patients with unilateral, juxtapapillary combined harmatoma. Complete ophthalmic examination was performed. MultiColor(TM), including green reflectance (GR) and near infra-red reflectance (NIRR), optical coherence tomography (OCT) and autofluorescence (AF) imaging were obtained (Heidelberg Spectralis). RESULTS: On MultiColor(TM), ‘red shifting’, indicated partial pigmentation. GR clearly defined epiretinal gliosis, retinal dragging and striations. On NIRR, all lesions were hypo-reflectant with hyper-reflectance at their edges. OCT showed full-thickness retinal thickening and disorganisation, intra-retinal fluid in two cases, sectoral RPE atrophy with photoreceptor loss in one case, RPE thickening and foveal pigment migration in one case; epiretinal membrane associated with ‘mini peaks’ of the inner retina in all cases and vitreous traction causing retinoschisis in one case. All lesions were hypo-autofluorescent. CONCLUSIONS: MultiColor(TM) enables combined harmatomas to be further characterised and may represent a valuable diagnostic and management tool: MultiColor(TM) and NIR define tumour boundaries and macular involvement, which may be useful for assessing visual impact; GR highlights inner retinal distortion, which may aid surgical management decisions.

The aim of this study is to review anatomical and functional outcomes following macular buckling (MB) in high myopia and to compare such results with those obtained by pars plana vitrectomy (PPV). PubMed articles on MB in high myopia (2000–2016) were reviewed. Main outcomes included retinal reattachment and macular hole (MH) closure rates, resolution of myopic foveoschisis (MFS), and postoperative visual acuity. Thirty-one articles included 16 in patients with retinal detachment due to MH (MHRD group), 11 in MFS with or without foveal detachment (MFS group), and 4 in MH patients with MFS (MH-MFS group). Surgical techniques mainly differed in the type of buckle, rectus muscles involvement, and concurrent PPV. In eyes with persistent MH, prognosis in the MHRD and MH-MFS groups differed between eyes receiving MB compared to PPV: functional outcome was markedly poorer and there was a higher risk of retinal redetachment associated with PPV. In the MSF group, secondary MHs were more likely to develop in eyes treated with PPV and internal limiting membrane peeling than those undergoing MB alone or combined with PPV. Retinal pigment epithelium changes, malpositioning, perforation, and choroidal detachment were the main complications. Although different approaches are used, complete resolution of foveoschisis, retinal reattachment, and MH closure seem to be achieved more frequently with MB than PPV.

The purpose of this report is to describe the case and management of an unexplained vitreous haemorrhage that occurred after repeated roller-coaster riding. The authors inadvertently demonstrate the value of observation over immediate surgery in certain situations and review the literature on vitreoretinal and other ocular complications after roller-coaster riding. A 26-year-old male presented 12 h after riding high-velocity roller-coasters with a left vitreous haemorrhage. A hazy view of the retina and B-scan revealed a bullous area of superior-temporal retinal lifting. A diagnosis of a presumed macula-on retinal detachment was made and the patient was listed for a pars plana vitrectomy retinal detachment repair. An abnormal clotting result, which was subsequently found out to be erroneous, ultimately delayed the procedure. During this delay the vision and retinal view improved to an extent whereby the diagnosis of a retinoschisis with an intraretinal cyst was made and surgery was avoided. The patient regained 6/6 vision, without the need to undergo surgery. Historically the management of an unexplained vitreous haemorrhage was observation with serial B-scans. The current evidence and practice for treating unexplained vitreous haemorrhage have since moved towards early surgical intervention. The authors highlight that despite the current trend, a place remains for conservative management for selected cases.

To report the clinical characteristics of abusive head trauma (AHT) in Taiwan and identify the risk factors associated with mortality of these patients. Children with clinically diagnosed AHT from January 1, 2000, to October 31, 2015 were reviewed. The demographic data, clinical features, and associated retinal and radiologic findings were analyzed. The multivariable logistic regression model analysis was performed to identify the risk factors associated with in-hospital mortality. A total of 75 children were included. The mean age was 7.31 ± 6.57 months (range, 1–36 months). Retinal hemorrhages were detected in 69 children with AHT (92%). The majority of retinal hemorrhages were characterized by hemorrhagic numbers higher than ten (74.7%), multi-layered (54.7%), and extension beyond the posterior pole to the peripheral retina (73.3%). Twenty children (26.7%) had macular retinoschisis. As a direct result of AHT, ten children died in the hospital (13.3%). Logistic regression showed that respiratory distress or apnea (adjusted odds ratio [OR] = 22.46; 95% confidence interval [CI], 2.24–225.33; P = .0082), vomiting (adjusted OR = 11.94; 95% CI, 1.31–108.403; P = .0276), retinal finding of macular retinoschisis (adjusted OR = 8.9; 95% CI, 1.01–78.65; P = .0493), and the presence of subarachnoid hemorrhage (SAH) (adjusted OR = 15.17; 95% CI, 1.40–64.84; P = .0255) were independently associated with mortality. Respiratory distress or apnea, vomiting, SAH, and macular retinoschisis are independently associated with mortality in abusive head trauma. A complete ophthalmologic examination with the immediate visualization of intraocular injury should be performed to clarify the likelihood of child abuse and predict a potential poor neurologic outcome.

Our purpose was to determine the effectiveness of vitrectomy in resolving the macular retinoschisis in an eye with glaucomatous optic neuropathy and also to determine the natural course of macular retinoschisis. This was a retrospective case series of patients who were diagnosed with macular retinoschisis and glaucomatous optic neuropathy. Fourteen eyes of 13 patients were studied. Patients with high myopia, vitreomacular traction syndrome, and the pit macular syndrome were excluded. There were three men and ten women, and 12 had unilateral and one had bilateral macular retinoschisis. Vitrectomy was performed for a serous retinal detachment, macular hole, or severe visual loss in five eyes. The mean follow-up time was 68.8 months in these five eyes, and the macular retinoschisis was resolved and the best-corrected visual acuity (BCVA) at the final visit was significantly improved in all eyes (P = 0.007). However, two of these fiv e eyes developed a macular hole and required a second vitrectomy. Of the nine eyes without treatment with a mean follow-up time of 29.0 months, the BCVA at the final visit remained unchanged from the baseline BCVA in all eyes. The macular retinoschisis was resolved or reduced in three eyes without treatment. Vitrectomy was effective for the resolution of macular retinoschisis in eyes with glaucomatous optic neuropathy and serous retinal detachment or macular hole or severe reduction of the BCVA. Macular retinoschisis can be resolved without a reduction of the BCVA in some cases without treatment.

To evaluate the outcomes of pars plana vitrectomy (PPV) with microscope-integrated intraoperative optical coherence tomography (I-OCT)-guided traction removal and center-sparing internal limiting membrane (cs-ILM) peeling. Nine eyes with myopic traction maculopathy as diagnosed on SD-OCT underwent PPV with I-OCT-guided cs-ILM peeling and were evaluated prospectively for resolution of central macular thickness (CMT) and improvement in best-corrected visual acuity (BCVA), and complications, if any, were noted. All patients were followed up for more than 9 months. Resolution of the macular retinoschisis was seen in all nine eyes on SD-OCT. At 36 weeks, there was a significant improvement in mean BCVA from the preoperative BCVA (P = 0.0089) along with a reduction in the CMT from 569.77 ± 263.19 to 166.0 ± 43.91 um (P = 0.0039). None of the eyes showed worsening of BCVA or development of full-thickness macular hole in the intraoperative or follow-up period. PPV with I-OCT-guided cs-ILM peeling helps in complete removal of traction, resolution of retinoschisis and good functional recovery with low intraoperative and postoperative complications.

To evaluate rod-isolated, cone-isolated, and combined rod and cone flicker electroretinograms (ERGs) as a possible means to identify electrophysiological abnormalities in carriers of X-linked retinoschisis (XLRS). Full-field ERGs were recorded from six carriers of XLRS (aged 34–66 years) and eight normally sighted subjects (aged 27–59 years) under rod-isolated (ERGR), cone-isolated (ERGC), and combined rod and cone (ERGR+C) conditions. ERGs were obtained using a four-primary LED-based ganzfeld photostimulator and standard recording techniques. The four primaries were modulated sinusoidally in phase to achieve combined rod and cone activation (ERGR+C) or in different phases to achieve ERGR and ERGC by means of triple silent substitution. After 30 min of dark adaptation, 8- and 15-Hz ERGR, ERGC, and ERGR+C responses were obtained at a mean luminance level of 24 scot. cd/m2. Standard ISCEV ERGs were also obtained from each subject. The ISCEV and 15-Hz flicker ERGs were generally within the normal range for the carriers. The 8-Hz ERGR, ERGC, and ERGR+C amplitudes were also generally normal. In contrast, the carriers had ERGR, ERGC, and ERGR+C timing abnormalities, with phase advances beyond the range of normal for the ERGR (four carriers), ERGC (four carriers), and ERGR+C (three carriers). Only one carrier had normal 8-Hz responses under all conditions. The 8-Hz ERG timing abnormalities in five of six carriers indicate that retinal function is not necessarily normal in carriers of XLRS. The 8-Hz flicker ERG may be useful for studying retinal function in these individuals.

Marked attenuation of the single-flash electroretinographic (ERG) b-wave in the presence of a normal-amplitude or less-attenuated a-wave is commonly referred to as the “negative ERG.” The purpose of this study was to investigate whether the disparate origins of the negative ERG in three murine models can be discriminated using flickering stimuli. Three models were selected: (1) the Nyx nob mouse model of complete congenital stationary night blindness, (2) the oxygen-induced retinopathy (OIR) rat model of retinopathy of prematurity (ROP), and (3) the Rs1 knockout (KO) mouse model of X-linked juvenile retinoschisis. Directly after a dark-adapted, single-flash ERG luminance series, a flicker ERG frequency series (0.5–30 Hz) was performed at a fixed luminance of 0.5 log cd s/m2. This series includes frequency ranges that are dominated by activity in (A) the rod pathways (below 5 Hz), (B) the cone ON-pathway (5–15 Hz), and (C) the cone OFF-pathway (above 15 Hz). All three models produced markedly attenuated single-flash ERG b-waves. In the Nyx nob mouse, which features postsynaptic deficits in the ON-pathways, the a-wave was normal and flicker responses were attenuated in ranges A and B, but not C. The ROP rat is characterized by inner-retinal ischemia which putatively affects both ON- and OFF-bipolar cell activity; flicker responses were reduced in all ranges (A–C). Notably, the choroid supplies the photoreceptors and is thought to be relatively intact in OIR, an idea supported by the nearly normal a-wave. Finally, in the Rs1 KO mouse, which has documented abnormality of the photoreceptor-bipolar synapse affecting both ON- and OFF-pathways, the flicker responses were attenuated in all ranges (A–C). The a-wave was also attenuated, likely as a consequence to schisms in the photoreceptor layer. Consideration of both single-flash and flickering ERG responses can discriminate the functional pathology of the negative ERG in these animal models of human disease.

To evaluate the clinical and morphological characteristics as well as the surgical outcomes of tractional retinal elevation (TRE) in patients with proliferative diabetic retinopathy (PDR) by analyzing spectral-domain optical coherence tomography (SD-OCT). SD-OCT images of 26 eyes (24 patients) who visited our clinic because of TRE and PDR from August 2011 to August 2014 were reviewed. According to the presence or absence of tractional retinal detachment (TRD), patients were classified into group 1 (without TRD) or group 2 (with TRD), and the clinical characteristics and surgical outcomes of the two groups were compared. Furthermore, we categorized the SD-OCT morphological components into sponge, cystoid, saw tooth, bridging columnar, and TRD and compared the characteristics among patients who had different components. Group 1 had 18 eyes and group 2 had eight eyes. No differences in age, best corrected visual acuity (BCVA), or spherical equivalent were observed between the two groups, but group 2 had longer axial length than that of group 1 (p = 0.02). A large variety of combined OCT findings was found in group 1 compared to that in group 2. TRD was the least combined form with the other morphological components. Although 92 % of eyes with the bridging columnar component had the cystoid component, TRD and tractional retinoschisis (TRS, bridging columnar morphology) were combined in only one eye. Diabetic TRE may progress to TRD or TRS, which are mutually exclusive. They may progress to TRD in eyes with a long axial length, and cystoid macular edema seems to develop into TRS.

The purpose of the study is to determine the incidence and distribution of paravascular lamellar holes (PLH) around retinal vessels in highly myopic eyes and their relationship with macular retinoschisis (MR). We examined 306 eyes of 178 patients with high myopia, performing multiple scans of the posterior pole within the retinal vascular arcades using spectral-domain OCT. Type of staphyloma was determined. PLH were divided into three groups: holes only (group 1), holes extending below vessels (group 2), and holes in an area of paravascular retinoschisis (group 3). OCT showed that 96/306 eyes (31.4 %) had PLH mainly along the infero-temporal arcade (39.9 %). Type V and IX staphylomas had a higher proportion of PLH in the infero-temporal arcade than other staphylomas. Group 3 eyes presented higher rates of myopia and staphyloma. MR was detected in 10/27 eyes (37 %) in Group 3, but only in 2/33 eyes (6.1 %) in Group 1. No MR was found in Group 2. PLH are relatively common in highly myopic eyes and mainly distributed in the inferior temporal arcade. Findings from this descriptive study suggest that distribution of PLH might be related to the type of staphyloma. Further studies are needed to evaluate the relevance of PLH in the pathogenesis of MR.

Maculopathy associated with optic disc pits (ODP), which sometimes causes severe visual loss, usually appears in late childhood or early adulthood. However, it has long been unclear how the disease begins to develop at these ages. We evaluated the relationship between vitreous structure and maculopathy associated with ODP. Six patients (seven eyes) with ODP were diagnosed between July 1990 and May 2013. Fundus photographs and swept-source optical coherence tomography (SS-OCT) images were evaluated retrospectively, and the vitreous at the vitreoretinal interface was visualized by reconstructing three-dimensional SS-OCT images. Vitrectomy was performed in the eyes with maculopathy. Among the six patients, five had ODP in one eye each and one patient had bilateral ODP. The pits were mainly located in the temporal quadrant, and maculopathy, including retinoschisis and retinal detachment, was detected in five eyes associated only with the temporal pits. A flat retinal detachment was observed in four eyes and identified within the vascular arcade except in one eye. A posterior precortical vitreous pocket (PPVP) was observed in all eyes except in one eye without maculopathy. Reconstructing images from SS-OCT showed the vitreoretinal interface abnormalities around the optic disc and the macular area in all eyes, which was completely different from the vitreoretinal interface in the normal pediatric eye. Vitrectomy was performed in four eyes with retinal detachment to resect the abnormal vitreous traction. Posterior vitreous detachment was created in two eyes. Retinal reattachment was achieved in three eyes, and subretinal fluid receded in one eye. The visual acuity improved in all four eyes. Abnormal traction of the vitreous due to an abnormality of the vitreoretinal interface, which may be strengthened by the development of a PPVP, generates the maculopathy associated with ODP.

To review the literature on epidemiology, clinical features, diagnostic imaging, natural history, management, therapeutic approaches, and prognosis of myopic foveoschisis. A systematic Pubmed search was conducted using search terms: myopia, myopic, staphyloma, foveoschisis, and myopic foveoschisis. The evidence base for each section was organised and reviewed. Where possible an authors' interpretation or conclusion is provided for each section. The term myopic foveoschisis was first coined in 1999. It is associated with posterior staphyloma in high myopia, and is often asymptomatic initially but progresses slowly, leading to loss of central vision from foveal detachment or macular hole formation. Optical coherence tomography is used to diagnose the splitting of the neural retina into a thicker inner layer and a thinner outer layer, but compound variants of the splits have been identified. Vitrectomy with an internal limiting membrane peel and gas tamponade is the preferred approach for eyes with vision decline. There has been a surge of new information on myopic foveoschisis. Advances in optical coherence tomography will continually improve our understanding of the pathogenesis of retinal splitting, and the mechanisms that lead to macular damage and visual loss. Currently, there is a good level of consensus that surgical intervention should be considered when there is progressive visual decline from myopic foveoschisis.

The purpose of this study was to evaluate the clinical features, optical coherence tomography (OCT) findings, and surgical outcomes of eyes with macular retinoschisis associated with glaucomatous optic neuropathy and normal intraocular pressure (IOP). In this retrospective interventional observational study, 11 eyes of 11 patients who underwent pars plana vitrectomy for macular retinoschisis and glaucomatous optic neuropathy were studied. All eyes had a vertical cup-to-disc ratio of ≥0.7 and retinal nerve fiber layer (RNFL) defects. Intraocular pressure (IOP) was

Background Myopic foveoschisis (MF) is among the leading causes of visual loss in high myopia. However, it remains controversial whether internal limiting membrane (ILM) peeling or gas tamponade is necessary treatment option for MF. Methods PubMed, EMBASE, CBM, CNKI, WANFANG DATA and VIP databases were systematically reviewed. Outcome indicators were myopic foveoschisis resolution rate, visual acuity improvement and postoperative complications. Results Nine studies that included 239 eyes were selected. The proportion of resolution of foveoschisis was higher in ILM peeling group than non-ILM peeling group (OR = 2.15, 95% CI: 1.06–4.35; P = 0.03). The proportion of postoperative complications was higher in Tamponade group than non-Tamponade group (OR = 10.81, 95% CI: 1.26–93.02; P = 0.03). However, the proportion of visual acuity improvement (OR = 1.63, 95% CI: 0.56–4.80; P = 0.37) between ILM peeling group and non-ILM peeling group and the proportion of resolution of foveoschisis (OR = 1.80, 95% CI: 0.76–4.28; P = 0.18) between Tamponade group and non-Tamponade group were similar. Conclusions Vitrectomy with internal limiting membrane peeling could contribute to better resolution of myopic foveoschisis than non-peeling, however it does not significantly influence the proportion of visual acuity improvement and postoperative complications. Vitrectomy with gas tamponade is associated with more complications than non-tamponade and does not significantly influence the proportion of visual acuity improvement and resolution of myopic foveoschisis. Electronic supplementary material The online version of this article (10.1186/s12886-017-0562-8) contains supplementary material, which is available to authorized users.

Congenital cavitary optic disc anomalies (CODA) is clinically typified by an enlarged excavation of optic disc in diverse degrees. Here, we report the clinical and genetic findings in a four-generation Chinese family with a complicated form of autosomal dominant CODA. Cardinal manifestations included bilateral excavated optic disc with multiple cilioretinal vessels emerging and bilateral retinoschisis with great variability in the range of extension and severity. Other intra-familial phenotypic diversities were also noted, including severity in retinal atrophy, onset age of visual impairment and presence of congenital nystagmus and strabismus. Genome-wide linkage analysis and fine mapping mapped a novel locus for CODA to a 34.3 cM interval between D14S972 and D14S139 at 14q12-q22.1. A maximum multi-point log odds score of 3.901 was reached at D14S275. However, no mutation was identified by exome sequencing or direct sequencing of PAX6 and PAX2 genes, suggesting that the mutation may reside within a regulatory element. In conclusion, we find retinoschisis as a necessary consequence of optic nerve head (ONH) anomalies. The complicated phenotype observed in the family provided additional insights into the inherited ONH anomalies. Mapping of a novel locus, 14q12-q22.1, implies a new disease-causing gene and potential distinct pathogenesis for CODA.

To investigate the concentrations of transforming growth factor (TGF)-β2, matrix metalloproteinase (MMP)-2, and tissue inhibitor of metalloproteinase (TIMP)-2 in the vitreous of patients with high myopia.Twenty-six patients with high myopia (HM) who received vitrectomy for macular retinoschisis or macular hole were enrolled in this prospective study. Twenty-six patients with idiopathic macular hole or macular epiretinal membrane were chosen as a control group. Vitreous samples were obtained during the vitrectomy surgery. The levels of TGF-β2、MMP-2、TIMP-2 in the vitreous samples were measured by enzyme-linked immunosorbent assay. The MMP activity was determined by a fluorometric assay.There was no significant difference in the vitreous level of TGF-β2 between HM (1.64 ± 0.38 ng/ml) and the control group (1.56 ± 0.32 ng/ml, p = 0.56). The vitreous levels of MMP-2 in HM (32.40 ± 14.90 ng/ml) were significantly higher than in the control group (21.42 ± 6.74 ng/ml, p 0.01). The ratio of MMP-2/TIMP-2 was significantly elevated in the vitreous samples from HM (0.61 ± 0.19), compared to the control group (0.48 ± 0.11, p 0.05). The MMP activity was also significantly elevated in the vitreous samples from HM (4,030.8 ± 1,257.3 FIU), compared to the control group (3,245.8 ± 835.6 FIU, p 0.05).The elevated MMP/TIMP ratio and MMP activity may play a role in the pathogenesis of human high myopia. Large prospective studies are needed to further investigate the effect of MMPs in the pathogenesis of human high myopia.

We report here a patient with bilateral papillomacular retinoschisis with an enlarged glaucomatous optic nerve head cup and a focal lamina cribrosa defect, the findings of our clinical investigations of this case, and the chosen treatment and outcome. This is an observational case report. Clinical examinations were performed using simultaneous confocal scanning laser ophthalmoscopy and optical coherence tomography (OCT). The patient was treated by pars plana vitrectomy (PPV). The left eye had a macular detachment with a presumed acquired pit of the optic nerve, while the right eye did not have an obvious optic nerve pit. Enhanced depth imaging OCT showed focal lamina cribrosa defects in both eyes. PPV was performed on the left eye, which resulted in a re-attachment of the macula and improvement of the visual acuity. Our findings suggest that the pathological changes were most likely due to focal lamina cribrosa defects in both glaucomatous eyes. This type of maculopathy can be successfully treated with PPV.

X-linked retinoschisis, a disease characterized by splitting of the retina, is caused by mutations in the retinoschisin gene, which encodes a putative secreted cell adhesion protein. Currently, there is no effective treatment for retinoschisis, though viral vector-mediated gene replacement therapies offer promise. We used intravitreal delivery of three different AAV vectors to target delivery of the RS1 gene to Müller glia, photoreceptors or multiple cell types throughout the retina. Müller glia radially span the entire retina, are accessible from the vitreous, and remain intact throughout progression of the disease. However, photoreceptors, not glia, normally secrete retinoschisin. We compared the efficacy of rescue mediated by retinoschisin secretion from these specific subtypes of retinal cells in the Rs1h-/- mouse model of retinoschisis. Our results indicate that all three vectors deliver the RS1 gene, and that several cell types can secrete retinoschisin, leading to transport of the protein across the retina. The greatest long-term rescue was observed when photoreceptors produce retinoschisin. Similar rescue was observed with photoreceptor-specific or generalized expression, although photoreceptor secretion may contribute to rescue in the latter case. These results collectively point to the importance of cell targeting and appropriate vector choice in the success of retinal gene therapies.

To assess the role of Spectral Domain Optical Coherence Tomography (SD-OCT) measurements as prognostic factors in myopic macular hole (MMH) surgery. In a retrospective cohort study, we evaluated 42 eyes of 42 patients (Spherical equivalent > −6.00 D) who underwent pars plana vitrectomy with internal limiting membrane peeling for MMH without foveoschisis. Statistical analysis was performed to correlate postoperative best corrected visual acuity (BCVA) with preoperative BCVA, age, degree of myopia and seven preoperative OCT measurements: macular hole (MH) base, MH minimum diameter, MH height, Hole Form Factor (HFF), Macular Hole Index (MHI), Diameter Hole Index (DHI) and Tractional Hole Index (THI). Primary and final anatomical success rate were 83.3 % (35/42) and 90.5 % (38/42), respectively. Four patients deferred reoperation and three underwent a second surgical approach to achieve MH closure. A posterior staphyloma was observed in 27 of 42 patients, and in three of them the MH was located in the apex of the staphyloma. Two of these three cases showed an open MH after the first surgery. Postoperative visual acuity improved in 22/42 (52.4 %) patients, worsened in 7/42 (16.7 %) and remained unchanged in 13/42 (30.9 %). Only MH minimum diameter (P = 0.03) and HFF (P = 0.02) correlated significantly with postoperative BCVA. Minimum diameter and HFF are strongly correlated with postoperative visual outcomes in cases of MMH. Since analyzing MH configuration seems to improve the anatomical success rate after vitreous surgery in highly myopic patients, these parameters should be preoperatively evaluated by SD-OCT.

To investigate the morphological characteristics of myopic macular retinoschisis (MRS) in teenagers with high myopia, six male (9 eyes) and 3 female (4 eyes) teenagers with typical MRS identified from chart review were evaluated. All cases underwent complete ophthalmic examinations including best corrected visual acuity (BCVA), indirect ophthalmoscopy, colour fundus photography, B-type ultrasonography, axial length measurement and spectral-domain optical coherence tomography (SD-OCT). The average age was 17.8 ± 1.5 years, average refractive error was −17.04 ± 3.04D, average BCVA was 0.43 ± 0.61 and average axial length was 30.42 ± 1.71 mm. Myopic macular degenerative changes (MDC) by colour fundus photographs revealed Ohno-Matsui Category 1 in 4 eyes and Category 2 in 9 eyes. Posterior staphyloma was found in 9 eyes. SD-OCT showed outer MRS in all 13 eyes, internal limiting membrane detachment in 7 eyes, vascular microfolds in 2 eyes and inner MRS in 1 eye. No premacular structures such as macular epiretinal membrane or partially detached posterior hyaloids were found. Our results showed that MRS rarely occurred in highly myopic teenagers and was not accompanied by premacular structures, severe MDC, or even obvious posterior staphyloma. This finding indicates that posterior scleral expansion is probably the main cause of MRS.

X-linked juvenile retinoschisis (XLRS), a leading cause of juvenile macular degeneration, is characterized by a spoke-wheel pattern in the macular region of the retina and splitting of the neurosensory retina. Our study is to describe the clinical characteristics of a four generations of this family (a total of 18 members)with X-linked retinoschisis (XLRS) and detected a novel mutations of c.3G > A (p.M1?) in the initiation codon of the RS1 gene. by direct sequencing.Identification of this mutation in this family provides evidence about potential genetic or environmental factors on its phenotypic variance, as patients presented with different phenotypes regardless of having the same mutation. Importantly, OCT has proven vital for XLRS diagnosis in children.

We report the diagnosis and treatment of patients with retinal detachment and/or retinoschisis associated with optic nerve coloboma or morning glory syndrome. A retrospective review of patients with optic nerve coloboma or morning glory syndrome with associated retinal detachment or retinoschisis was conducted. For five patients (six eyes), we report the clinical findings, spectral domain optical coherence tomography (OCT) imaging, intraoperative findings, and treatment outcomes. OCT scans demonstrate a bilaminar structure of maculopathy, consisting of inner schisis-like changes and outer layer retinal detachment. In most cases, a retinal break was demonstrated within the optic disc defect with three-dimensional OCT imaging. Glial tissue was sometimes observed within the anomalous defect. Vitrectomy and resection of the tractional tissue in these cases produced good anatomical and visual outcomes. Retinal detachment spontaneously resolved in cases where traction was not present. Traction may contribute to the pathogenesis of retinal detachment associated with colobomatous optic disc anomalies, either directly or by creating a secondary retinal break. OCT imaging assists with understanding the contributing factors to retinal detachment in individual cases of colobomatous optic disc anomalies and can thereby assist with determining the most effective approach to management.

Background To describe a case of macular retinoschisis in a patient with normal tension glaucoma without evidence of optic nerve pits or peripapillary retinoschisis. Methods Case report. Results This patient, diagnosed with normal tension glaucoma, was noted to have macular retinoschisis in the right eye, with matching changes on visual field and optical coherence tomographic (OCT) results. Follow-up examination revealed that the schisis kept on appearing in the right eye. Conclusions Macular retinoschisis may appear in patients with normal tension glaucoma. It is possible that microholes in the thinning and structural defects areas in the nerve fiber layer around the optic cup allowed liquid vitreous to enter the retina via the nerve fiber layer. The fluid caused retinal edema, a schisis and even a serous retinal detachment. Further studies are needed to better understand this disease process.

To evaluate the morphological changes that occurred during the development of a full-thickness macular hole (FTMH) from macular retinoschisis (MRS) in highly myopic eyes by optical coherence tomography (OCT). The clinical characteristics and OCT images of five eyes of five patients with myopic MRS who developed FTMH during the follow-up period were evaluated. The natural evolution from MRS to FTMH was classified into two patterns by OCT findings. In FTMH formation pattern 1, a focal area of the external retinal layer was elevated and followed by the development of a small outer lamellar macular hole (OLMH) and retinal detachment (RD). The OLMH and RD were then enlarged horizontally and elevated vertically until the OLMH was attached to the overlying retinal layer. A FTMH finally developed when the roof of RD opened. In FTMH formation pattern 2, the opening of the roof of MRS or cystoid space caused an inner lamellar macular hole (ILMH). The MRS was then gradually resolved except the residual MRS beneath the ILMH, the ILMH would finally proceed into a FTMH as long as the remained external retinal layer beneath the ILMH continued splitting posteriorly until it reached retinal epithelium pigment. Our longitudinal study revealed two patterns of FTMH formation in highly myopic eyes with MRS. This finding might be useful in further understanding the pathogenesis of macular hole formation in high myopia.

To identify genetic mutations of the XLRS1 gene and to describe the ocular phenotypes in two unrelated Thai patients with X-linked juvenile retinoschisis.Ophthalmic examination, including best-corrected visual acuity and fundus examination and photography, was performed in all participants. Electroretinography (ERG) and optical coherence tomography were performed when possible. All six exons of the XLRS1 gene were amplified, and mutation screening was determined by denaturing high-performance liquid chromatography and DNA sequencing.Two point mutations were identified, a novel missense mutation c.378AG (p.D126G) in exon 5 and a reported mutation c.637CT (p.R213W) in exon 6. The first proband with the p.D126G mutation developed vitreous hemorrhage in both eyes at age 7 months. Foveal and peripheral schisis with several inner layer holes were detected in both eyes. The second proband with the p.R213W mutation developed slightly blurred vision at age 10 years. Fundus examination showed numerous fine white dots at the macula without foveal or peripheral schisis. Electronegative ERG results were documented in both probands.A novel p.D126G mutation appeared to be associated with a severe phenotype with vitreous hemorrhage developing in infancy. Both intra- and interfamilial clinical variabilities were recognized in our patients.