Zone Disruption Research Articles

A retrospective longitudinal study of 52 Finnish patients with X-linked retinoschisis.

To describe clinical characteristics in Finnish patients with X-linked retinoschisis (XLRS) longitudinally with emphasis on retinal morphology and genotype-phenotype correlations. A retrospective cohort study reviewed medical records from patients with genetically confirmed XLRS from the Department of Ophthalmology, Helsinki University Hospital. Best-corrected visual acuity (BCVA), refraction, colour fundus photography, spectral-domain optical coherence tomography and genetic information were collected. Fifty-two males were diagnosed at the median age of 7 years (range 1-57) and followed for a median of 8 years (range, 1-49). Baseline findings included macular retinoschisis in 92(89%), macular atrophy in 25 (24%) and peripheral retinoschisis in 22 (21%) eyes. Vitreous haemorrhage occurred in 10 (10%) eyes, more frequently with peripheral schisis (p < 0.001). Nearly half of the patients, 22 (42%) were classified as visually impaired according to WHO. Median central retinal thickness was similar between initial (355 μm) and latest visits (360 μm) (p = 0.781). Low BCVA was associated with macular atrophy (p < 0.001), ellipsoid zone disruption (p = 0.007) and peripheral retinoschisis (p = 0.006). The three Finnish founder mutations c.214G >A, c.221G >T, and c.325G >C in exon 4 of retinoschisin 1 (RS1) were identified in 40 patients (77%). No associations were found between the genotypes and phenotypes. Three-fourths of the patients carried the Finnish founder mutations in RS1, but we did not detect any genotype-phenotype association. Macular atrophy was associated with the poorest visual acuity. Ocular compilations were associated with peripheral retinoschisis, suggesting that these patients should be followed more frequently.

Longitudinal Imaging of the Foveal Cone Mosaic in CNGA3-Associated Achromatopsia.

The purpose of this study was to assess the natural history of the foveal cone mosaic in CNGA3-associated achromatopsia (ACHM). Thirteen eyes from 10 genetically confirmed patients underwent longitudinal imaging with optical coherence tomography (OCT) and non-confocal split detection adaptive optics scanning light ophthalmoscopy (AOSLO). OCT scans assessed outer nuclear layer (ONL) thickness, foveal ellipsoid zone (EZ) disruption, and foveal hypoplasia. AOSLO images were analyzed to calculate peak foveal cone density (PCD) and mean inter-cell distance (ICD) between cones. Mixed effects models were used to analyze the rate of annual change of PCD and ICD. Mean (±SD) age at visits was 29 ± 10 years, with a follow-up of 2.6 ± 1 years. There was no change in ONL thickness, degree of EZ disruption, or foveal hypoplasia over the follow-up period. We also observed a stable foveal cone mosaic using AOSLO imaging, with no significant change in PCD or ICD. Mean PCD was 15,346 cones/mm² at the mean age of 29 years old (cf. 64,000-324,000 cones/mm² in previously reported healthy controls), with a mean rate of change of -117.79 cones/mm² (0.8%) per year, P = 0.130. Mean ICD at the mean age was 13.82 µm, with a rate of change of 0.17 µm per year, P = 0.83. CNGA3-associated ACHM displays stable foveal cone structure over time with a similar rate of change to CNGB3-associated ACHM (2% decline per year). The stable PCD, small cohort, and large variability within the cohort means significant age associations were not detected.

Genotype–Phenotype Correlations in 83 Korean X-linked Retinoschisis Patients: Impact of Retinoschisin 1 Secretion Profiles on Clinical Phenotypes

To assess the correlation between genotype and phenotype severity in X-linked juvenile retinoschisis (XLRS) by examining clinical and genetic features of a cohort of Korean XLRS patients. Retrospective, observational study. Data from 83 consecutive male patients with molecularly confirmed XLRS were collected retrospectively. Clinical evaluation included best-corrected visual acuity (BCVA), fundus photography, spectral-domain optical coherence tomography (SD-OCT), and full-field electroretinography (ERG). The phenotypic characteristics of a cohort of pediatric Korean XLRS patients, based on mutation types (truncating versus missense) and secretory profile (secretion versus non-secretion), were assessed. One hundred sixty-six eyes of 83 patients were included. The mean age at diagnosis was 6.1 ± 8.8 years (range, 0.5-20.7 years), with a mean follow-up time of 9.2 ± 7.0 years (range, 0.6-24.3 years). The BCVA at first and last examination ranged from light perception to 0.1 logarithm of the minimum angle of resolution (mean ± SD, 0.75 ± 0.59 and 0.82 ± 0.65, respectively). There were no significant differences in the first and last BCVA measurements between the truncating (0.71 ± 0.51 and 0.75 ± 0.44) and missense (0.77 ± 0.59 and 0.84 ± 0.66) variants (P = 0.678 and 0.551, respectively). Additionally, there were no differences in clinical parameters from fundus photography, SD-OCT, and full-field ERG. However, the BCVA at the first and last measurement were better for patients in the secretion group (0.51 ± 0.24 and 0.61 ± 0.30) compared to patients in the non-secretion group (0.65 ± 0.71 and 0.87 ± 0.81). The last BCVA showed a statistically significant difference between the two groups (P = 0.021). In OCT findings, the frequency of ellipsoid zone disruption was higher in patients with non-secretion variants than those with secretion variants (P = 0.030), with no significant differences in other parameters. The secretion profile of RS1 could influence the severity of XLRS phenotypes. Patients with RS1-secreted mutants, particularly with intact octamerization, exhibit more homogeneous phenotypes and better visual acuity than the RS1-non-secreted group. This data provides insights for studying genotype and phenotype correlations in both clinical and research fields.

THE PROGNOSTIC SIGNIFICANCE OF ACUTE HENLE FIBER LAYER HYPERREFLECTIVITY IN PLACOID DISEASES.

To investigate the pathophysiology and prognostic significance of acute Henle fiber layer (HFL) hyperreflectivity in placoid diseases by examining its relationship with impaired choroidal flow and persistent photoreceptor disruption. Retrospective-prospective observational study on patients with placoid diseases. Indocyanine green angiography and optical coherence tomography were performed during the acute phase and follow-up. Impaired choroidal flow, HFL hyperreflectivity, and persistent ellipsoid zone disruption, their colocalization index, and their associations with initial and final visual acuity were explored. Sixteen eyes from eight patients (mean age, 25.3 ± 6.44 years) were included (median follow-up, 13.5 months). Quantitative analysis revealed significant correlations between areas of impaired choroidal flow, HFL hyperreflectivity, and persistent ellipsoid zone disruption (correlation coefficients of 0.69, 0.63, and 0.46, respectively). Impaired choroidal flow area exceeded HFL hyperreflectivity (P = 0.002) and ellipsoid zone disruption (P = 0.003). A noteworthy 94% nonrandom overlap between HFL hyperreflectivity and ellipsoid zone disruption was observed. Worse initial visual acuity correlated with foveal involvement (P = 0.0002), thicker choroid (P = 0.001), larger impaired choroidal flow areas (P = 0.02), and thinner outer retina post lesion inactivation (P = 0.04). Henle fiber layer hyperreflectivity predicted photoreceptor recovery potential in placoid diseases. If HFL hyperreflectivity corresponds to acute HFL damage, it may suggest more severe involvement of the entire photoreceptor length.

SPECTRAL-DOMAIN OCT INSIGHTS INTO IDIOPATHIC EPIRETINAL MEMBRANE SURGERY OUTCOMES.

This study aims to assess the prognostic value of a classification system that includes the presence of ectopic inner foveal layers (EIFL) and other anatomical variables identified in spectral-domain optical coherence tomography (SD-OCT) for idiopathic epiretinal membrane (ERM) surgery. A descriptive-analytic, longitudinal, retrospective study was conducted on patients with idiopathic ERMs treated with pars plana vitrectomy (PPV) from January 2017 to December 2021. Clinical data and SD-OCT images were reviewed pre-surgery and 12 months post-surgery. The primary outcome measured was best corrected visual acuity (BCVA) before and after surgery, analyzing the impact of anatomical factors on BCVA in patients undergoing ERM surgery. The study included 342 eyes from 323 patients. Post-surgical evaluations showed significant reductions in central foveal thickness (CFT) across all ERM stages, with most stage 4 ERMs regressing to stage 3. The mean improvement in BCVA was significant for all stages, with earlier stages showing better results. Presence of macular edema (ME) and ellipsoid zone (EZ) disruption were significant predictors of post-surgical BCVA, while disorganization of the retinal inner layer (DRIL) showed association with visual recovery but was not conclusively predictive. The study highlights the importance of SD-OCT in assessing retinal changes in idiopathic ERMs, demonstrating the prognostic value of EIFL stage scheme and other anatomical variables like EZ disruption and ME presence on BCVA. These findings offer insights for surgical prognostication and the potential for personalized treatment strategies.

Secondary Multiple Evanescent White Dot Syndrome Following Blunt Trauma.

To report a case of secondary unilateral MEWDS following blunt trauma to the eye. Observational case report of one patient. A 25-year-old male initially presented after being hit in the left eye with a football, with visual acuity of 20/50, traumatic iritis, commotio retinae, vitreous hemorrhage, and a large pigment epithelial detachment in the superior macula. He was lost to follow-up for two years before presenting with a sudden decrease in vision. On exam, best corrected VA (BCVA) was counting fingers and clinical exam demonstrated fibrosis in the superior macula, small white lesions around the optic disc and throughout the posterior pole, and ellipsoid zone disruption on OCT. Given the clinical appearance, a diagnosis of Multiple Evanescent White Dot Syndrome was made and the decision was made to observe. Two months later, without treatment, BCVA improved to 20/20, and there was resolution of the white lesions in the posterior pole as well as improved continuity of the ellipsoid zone on OCT. We describe a case of Multiple Evanescent White Dot Syndrome two years after blunt trauma to the eye; a far longer latency than previously reported cases of MEWDS secondary to blunt trauma.

Evaluation of Anatomical and Tomographic Biomarkers as Predictive Visual Acuity Factors in Eyes with Retinal Vein Occlusion Treated with Dexamethasone Implant.

Background: This prospective study evaluated the impact of anatomical and tomographic biomarkers on clinical outcomes of intravitreal dexamethasone implants in patients with macular edema secondary to retinal vein occlusion (RVO). Methods: The study included 46 patients (28 with branch RVO (BRVO) and 18 with central RVO (CRVO)). Best corrected visual acuity (BCVA) significantly improved from a mean baseline of 0.817 ± 0.220 logMAR to 0.663 ± 0.267 logMAR at six months and 0.639 ± 0.321 logMAR at twelve months (p < 0.05). Central retinal thickness (CRT) showed a significant reduction from 666.2 ± 212.2 µm to 471.1 ± 215.6 µm at six months and 467 ± 175.7 µm at twelve months (p < 0.05). No significant differences were found in OCT biomarkers between baseline and follow-ups. Results: The study analysed improvements in visual acuity relative to baseline biomarkers. At six months, ellipsoid zone disruption (EZD) was significant for all subgroups. Disorganization of retinal inner layers (DRIL), external limiting membrane (ELM) disruption, macular ischemia (MI), CRT, and BRVO showed significance for any improvement, while DRIL and ELM were significant for changes greater than 0.3 logMAR (p < 0.05). At twelve months, EZD remained significant for all subgroups. ELM, MI, CRT, and BRVO were significant for any improvement, while MI and BRVO were significant for changes greater than 0.3 logMAR (p < 0.05). Hyperreflective foci were not statistically significant at either time point (p > 0.05). Conclusions: The regression model suggested that MI and CRVO could be negative predictive factors for visual outcomes, while ELM and EZD were associated with BCVA improvement one-year post-treatment.

Disorganisation of basement membrane zone architecture impairs melanocyte residence in vitiligo.

The basement membrane zone is the interface between the epidermis and dermis, and it is disrupted in several skin conditions. Here, we report the results of a comprehensive investigation into the structural and molecular factors of the basement membrane zone in vitiligo, a dermatological disorder characterised by depigmented patches on the skin. Using electron microscopy and immunofluorescence staining, we confirmed abnormal basement membrane zone morphology and disrupted basement membrane zone architecture in human vitiliginous skin. Furthermore, we identified elevated expression of matrix metalloproteinase 2 (MMP2) in human dermal fibroblasts as a key factor responsible for basement membrane zone matrix degradation. In our in vitro and ex vivo models, overexpression of MMP2 in fibroblasts led to basement membrane zone disruption and melanocyte disappearance. Importantly, we reveal that the loss of melanocytes in vitiligo is primarily linked to their weakened adhesion to the basement membrane, mediated by binding between integrin β1 and laminin and discoidin domain receptor 1 and collagen IV. Finally, inhibition of matrix metalloproteinase 2 expression reversed depigmentation in a mouse model of vitiligo. In conclusion, our research shows the importance of basement membrane zone integrity in melanocyte residence and offers new avenues for therapeutic interventions to address this challenging skin condition. © 2024 The Author(s). The Journal of Pathology published by John Wiley & Sons Ltd on behalf of The Pathological Society of Great Britain and Ireland.

GENETIC ETIOLOGY AND CLINICAL FEATURES OF ACHROMATOPSIA IN JAPAN.

To ascertain the characteristics of achromatopsia (ACHM) in Japan by analyzing the genetic and phenotypic features of patients with ACHM. The medical records of 52 patients from 47 Japanese families who were clinically diagnosed with ACHM were reviewed in this retrospective observational study. Thirty-six causative variants of ACHM were identified in 26 families via whole-exome sequencing: PDE6C (12 families), CNGA3 (10 families), CNGB3 (two families), and GNAT2 (two families). However, none of the 6 causative variants that are known to cause ACHM, or the 275 other genes listed in RetNet, were observed in 19 families. A significant trend toward older age and worsening of ellipsoid zone disruption on optical coherence tomography images was observed (P < 0.01). Progressive ellipsoid zone disruptions were observed in 13 eyes of seven patients during the follow-up visits. These patients harbored one or more variants in PDE6C. The ACHM phenotype observed in this study was similar to those observed in previous reports; however, the causative gene variants differed from those in Europe. The low identification ratio of causative genes in whole-exome sequencing suggests the presence of unique hotspots in Japanese patients with ACHM that were not detectable via ordinal whole-exome sequencing.

Enhanced depth imaging optical coherence tomography features of two types of Vogt-Koyanagi-Harada disease: fuzzy or lost pattern of the choroidal vasculature is of diagnostic value.

This study aimed to compare enhanced depth imaging optical coherence tomography (EDI-OCT) features of exudative retinal detachment (ERD) type and optic disc (OD) swelling type Vogt-Koyanagi-Harada (VKH) disease. Hospitalized VKH patients were retrospectively reviewed and classified into the ERD type and the OD swelling type. The EDI-OCT features were then analyzed. The study included 32 ERD type and 15 OD swelling type VKH patients at the acute uveitis stage. The interval between the onset of ocular symptoms and the start of treatment in OD swelling type VKH disease was significantly longer compared to the ERD type (p < 0.001). A fuzzy or lost pattern of the choroidal vasculature was observed in 100% of VKH patients of both types. Moreover, high frequencies (greater than or equal to 50%) of fluctuations in the internal limiting membrane, interdigitation zone disruption, ERD, retinal pigment epithelium (RPE) folds, and ellipsoid zone disruption were observed in both types. Patients with OD swelling type VKH disease exhibited higher frequencies of OD swelling and hyperreflective substances above the RPE (p < 0.001 and p = 0.003, respectively), with lower frequencies of ERD and bacillary layer detachment (p = 0.012 and p < 0.001, respectively). At the convalescence stage, changes in the EDI-OCT images of 10 ERD type and 5 OD swelling type VKH patients were analyzed. The frequencies of the OCT features decreased with similar trends in both types of VKH disease. Although ERD type and OD swelling type VKH disease have their own unique characteristics, they share common EDI-OCT features. The Fuzzy or lost pattern of the choroidal vasculature that indicates choroidal inflammation may serve as a diagnostic aid for VKH disease, especially for the OD swelling type and the early-stage ERD type.

Presumed macular toxicity of high-dose intravitreal ganciclovir

Abstract: A 56-year-old male with bilateral cytomegalovirus retinitis was initiated on oral valganciclovir and intravitreal ganciclovir injection twice a week in first 2 weeks and once a week in subsequent weeks. An intravitreal dose of 2 mg/0.08 mL was administered in the 1st week. Considering the suboptimal response, the dose of intravitreal ganciclovir was increased to 4 mg/0.08 mL. After 4 weeks of therapy (four doses of 4-mg ganciclovir), the patient complained of worsening of vision. Fundus examination showed resolving retinitis, but the optical coherence tomography (OCT) showed neurosensory detachment (NSD) at the fovea in both eyes with inner retinal hyperreflectivity in the right eye. Considering the possibility of retinitis involving fovea, a higher dose of intravitreal ganciclovir (6 mg/0.08 mL) was administered. The patient reported further worsening of vision immediately after removing the eye patch 2 hr following the injection. OCT showed a full-thickness hyperreflective vertical band with ellipsoid zone disruption at the fovea and inner retinal hyperreflectivity in the right eye. Hyperreflective vertical band with NSD was seen in the left eye. A possibility of macular toxicity due to intravitreal ganciclovir was considered. Intravitreal therapy was stopped and oral valganciclovir was continued. At 1-month follow-up, the patient reported improvement in vision. The hyperreflectivity and NSD were resolved at month follow-up. Although higher doses of ganciclovir up to 6 mg have been used in the past, it would be better to avoid higher doses considering the development of presumed drug toxicity in our case following the use of 4 mg and 6 mg.

BROAD VITREOMACULAR ATTACHMENT-INDUCED MACULAR HOLE: Structural Changes and Surgical Outcome.

This study aims to describe the structural changes and surgical outcomes of full-thickness macular holes (FTMHs) induced by vitreomacular traction with broad vitreomacular attachment (VMA). A retrospective analysis of idiopathic FTMHs from October 2010 to May 2022 was conducted. Patients with FTMHs and no retinal detachment (RD) induced by broad VMA (the study group) were compared with a control group consisting of typical FTMHs with focal VMA. Thirty-one eyes had broad VMA-associated FTMH, among which seven eyes (22%) were with concurrent RD. Among the total of 24 cases without RD, 8 (33%) exhibited schisis. The incidence of lamellar holes associated epithelial proliferation and multiple membrane traction was significantly higher in the study group. One hundred percent FTMH closure was observed postoperatively in both groups. Although the postoperative visual acuity was not significantly different, the study group showed a greater ellipsoid zone disruption length. Broad VMA-induced FTMHs are characterized by diverse macular structural changes, including schisis and macular detachment. These FTMHs are associated with a higher incidence of lamellar holes associated epithelial proliferation and multiple membrane traction. Surgical outcomes for FTMHs induced by broad VMA are similar to those induced by typical focal VMA, with both groups demonstrating a 100% hole-closure rate.

IQCB1 (NPHP5)-Retinopathy: Clinical and Genetic Characterization and Natural History

To describe the clinical and genetic features, and explore the natural history of retinopathy associated with IQCB1 variants in children and adults with retinopathy. Retrospective cohort study at a single tertiary care referral center. The study recruited 19 patients with retinopathy, harboring likely disease-causing variants in IQCB1. Demographic data and clinical presentation, best corrected visual acuity (BCVA), fundus appearance, optical coherence tomography (OCT) and autofluorescence features, electroretinography (ERG) and molecular genetics are reported. Ten patients had best corrected visual acuity better than 1.0 LogMAR, and BCVA remained stable till the last review. Seven patients had a vision of hand movements or worse in at least one eye at presentation. There was no correlation found between age of onset and severity of vision loss. Nine patients (47.4%) had a diagnosis of end-stage renal failure at presentation. The other 10 patients (52.6%) had a diagnosis of non-syndromic IQCB1-retinopathy and maintained normal renal function until the last follow-up. The mean age at diagnosis of renal failure was 26.3 ±19.8 years. OCT showed ellipsoid zone (EZ) disruption with foveal sparing in 8/13 patients. All patients had stable OCT findings. Full-field ERGs in four adults revealed a severe cone-rod dystrophy and three children had extinguished ERGs. We identified 17 IQCB1 variants, all predicted to cause loss of function. IQCB1-retinopathy is a severe early-onset cone-rod dystrophy. The dissociation between severely decreased retinal function and relative preservation of retinal structure over a wide age window makes the disease a candidate for gene therapy.

Clinical and optical coherence tomography biomarkers as prognostic factors in dexamethasone intravitreal implant for diabetic macular edema.

Aim of the study was to evaluate the efficacy of dexamethasone (DEX) 0.7 mg intravitreal implant in patients with diabetic macular edema (DME) and serous retinal detachment (SRD), and to study the prognostic factors on a follow up of 12 months. Forty eyes of twenty- six patients with centre involving DME and SRD, who underwent DEX implant, were enrolled. Best-corrected visual acuity (BCVA), Swept source OCT imaging and intraocular pressure were evaluated. Central macular thickness (CMT), vitreomacular adhesion (VMA), disorganization of retinal inner layers (DRILs), hyperreflective dots (HRD), SRD and ellipsoid zone (EZ) disruption were included in the analysis at baseline and 12 months after implant. According to our parametric analysis, at 12 months, BVCA improvement from 48.6 ± 23.4 letters to 53.3 ± 24.5 letters was statistically significant (p = 0.04), CMT decreased from 460 ± 99.52 μm to 322.9 ± 117 μm. The presence at baseline of VMA (p = 0.01), EZ disruption (p = 0.03) and DRILs (p = 0.04), were associated with poor BCVA improvement at the end of follow-up. In conclusion, OCT biomarkers can be considered significant prognostic factors for treatment outcome in patients with DME undergoing DEX intravitreal implant.

Retinal biomarkers in vascular occlusion

Objective: To clarify the diagnostic and prognostic values of the biomarkers detected by multimodal imaging procedures as coloured fundus imaging, fluorescein angiography, near infra‐red imaging, fundus Autofluorescence, SD‐OCT, and OCT angiography to predict the prognosis and the response to therapy in retinal vascular occlusions (artery or vein).Recently, there has been an interest in determining the prognostic value of changes on optical coherence tomography (OCT) in retinal vein occlusion as it allows both quantitative and qualitative analysis of imaging biomarkers such as central retinal thickness, choroidal thickness, intraretinal hyper‐reflective foci (HRF), disorganization of the inner retinal layers (DRIL), external limiting membrane (ELM) disruption, ellipsoid zone (EZ) disruption. Also classifying the intraretinal edema if sponge‐like or cystoid or serous retinal detachment (and detecting its height). Also signs of ischemia can be detected such as prominent middle limiting membrane (p‐MLM), paracentral acute middle maculopathy (PAMM), as well as hyperreflectivity of the inner retinal layers (HIRL) which is commonly seen in cases of acute retinal artery occlusion. Internal limiting membrane detachment (ILMD) which is a novel biomarker that can be detected in some cases of acute CRAO.OCT Angiography has added more information about the assessment of microvascular alterations, especially vessel density in the deep retinal vascular plexus, the foveal avascular zone and of areas with no capillary perfusion. Biomarkers of ultra‐widefield angiography, such as peripheral ischemia (ischemic index) and neovascularization are essential for retinal laser treatment decision.Finally, FAF has been a very useful tool in monitoring the disease progression and response to treatment.The speaker will present examples of multimodal imaging of different retinal biomarkers in retinal vascular occlusion that help in predicting the prognosis.

Relationship between visual function and macular microstructure in highly myopic patients undergoing surgery for rhegmatogenous retinal detachment.

To analyze the relationship between visual function and macular microstructure in highly myopic patients undergoing surgery for rhegmatogenous retinal detachment (RRD). Fifty-eight highly myopic patients treated in the Baoding No. 1 Central Hospital between December 2021 and September 2023 were selected as the research participants for retrospective analysis. All patients were complicated with RRD and underwent retinal reattachment surgery at Baoding No. 1 Central Hospital after diagnosis. Best-corrected visual acuity (BCVA) examinations were performed before and 3 months after surgery, and visual field mean sensitivity (MS) and fixation stability (FS) were measured by microperimetry. Additionally, changes in postoperative macular microstructure and micro blood flow were determined by optical coherence tomography (OCT), and their correlations with visual function were analyzed. Patients showed reduced BCVA, MS, and FS after surgery (all P<0.05), with 70.69% of them presenting with macular microstructural changes, mainly ellipsoid zone disruption and external limiting membrane disruption. Patients with macular microstructural changes exhibited significantly decreased BCVA, MS, and FS than those without (all P<0.05). In terms of micro blood flow, the BCVA, FS, and MS of patients with macular microstructural changes were negatively correlated with the foveal avascular zone (FAZ) area but were positively related to FAZ morphological index, PSCP, and VSCP (all P<0.05). Changes in patients' visual function after surgery for RRD can be effectively evaluated by observing the macular ellipsoid, the integrity of the external limiting membrane, and the alterations in micro-blood flow, enabling the formulation of early and targeted interventions.

Intravitreal Dexamethasone Implant in the Treatment of Diabetic Macular Edema Focusing.

The aim of this study was to evaluate the outcomes of Ozurdex® (DEX) implant in patients with diabetic macular edema (DME) in real-world clinical practice, and to determine the correlation between known OCT biomarkers and the effect of treatment. This retrospective study included 42 eyes of 33 patients (16 women, 17 men) treated with DEX at the Department of Ophthalmology, Faculty of Medicine and Dentistry of Palacký University and University Hospital Olomouc for DME indication between 2020 and 2023. Follow-up examinations were conducted at 1, 3, and 6 months after the first DEX application. The main assessed parameters were: best-corrected visual acuity (BCVA), intraocular pressure (IOP), central retinal thickness (CRT), OCT biomarkers. The results were subsequently statistically evaluated. At the first follow-up after DEX application, there was an average decrease in CRT of 186 ±146µm and a gain of 3 ±7 letters. Positive morphological and functional responses were observed in 39 eyes (92.9%) and 23 eyes (54.8%) respectively. The disorganization of retinal inner layers (DRIL) biomarker was initially present in 41 eyes (97.6%), with reduction or disappearance observed in 13 eyes (31%) post-application. Eyes with ellipsoid zone disruption (EZ disruption) had an average initial BCVA of 49.6 letters, compared to 57.8 letters in the group without this biomarker. The mean gain in BCVA was +8.7 letters in treatment-naive eyes and +2.1 letters in previously treated eyes. Chronic DME was less frequent in treatment-naive (n = 1, 14.3%) compared to previously treated eyes (n = 28, 84.8%). All these results were statistically significant (p &lt; 0.05). An increase in IOP post-DEX application occurred in 9 patients (21.4%). Our results confirm DEX as a safe and effective treatment option for DME. Treatment-naive patients achieved better functional outcomes. We confirmed ellipsoid zone disruption (EZ disruption) as a negative biomarker. Additionally, we demonstrated the capacity of DEX to reduce disorganization of the retinal inner layers (DRIL).

Outcomes of Pars Plana Vitrectomy With Membrane Peel for Lamellar Macular Holes and Related Conditions Using a New Optical Coherence Tomography Consensus Definition.

Purpose: To characterize the change in visual acuity (VA) in eyes treated with vitrectomy using the 2020 international consensus-based optical coherence tomography (OCT) definition of lamellar macular hole (LMH), macular pseudohole (MPH), and epiretinal membrane with foveoschisis (ERMF). Methods: A retrospective chart review was performed from 2000 to 2022 of patients who had vitrectomy for symptomatic decreased VA from LMH, MPH, or ERMF performed by the same surgeon at a community hospital. Preoperative spectral domain (SD-OCT) was reviewed to classify patients using the consensus guidelines. Primary outcomes were the mean change in best-corrected VA at 3 months, 1 year, and the final postoperative examination. Results: Fifty-one patients were included, 30 with LMH, 14 with MPH, and 7 with ERMF. The VA was 20/63 at baseline, 20/62 (P = .79) 3 months postoperatively, 20/40 (P = .003) at 1 year, and 20/52 (P = .10) at the final examination for LMH; 20/64, 20/50 (P = .16), 20/40 (P = .040), and 20/40 (P = .02), respectively, for MPH; and 20/53, 20/50 (P = .42), 20/30 (P = .03), and 20/38 (P = .04), respectively, for ERMF. Subgroup analysis showed that eyes with LMH without ellipsoid zone (EZ) disruption on SD-OCT improved from 20/57 at baseline to 20/39 (P = .01) at the final examination. Conclusions: There was no significant improvement in VA at the final postvitrectomy examination in eyes with LMH, while there was significant improvement in eyes with MPH and ERMF. This supports surgery in selected eyes with MPH and ERMF but possibly not in eyes with LMH, unless OCT shows no EZ disruption.

Study of OCT based biomarkers as a predictor of visual outcome in diabetic macular edema

To determine the association between optical coherence tomography (SD-OCT) based biomarkers and visual acuity (VA) in diabetic macular edema (DME). This cross-sectional study was conducted at a tertiary care teaching hospitalbetweenJanuary 2021 and July 2022.The study included 54 eyes (30 patients) with DME. Based on the early treatment diabetic retinopathy study (ETDRS) grading system, these were classified as mild (n=1), moderate (n=31), severe (n=14), and very severe (n=8) non-proliferative diabetic retinopathy (NPDR). The demographics, VA recorded using ETDRS chart and ETDRS scoring system, slit lamp biomicroscopy findings, colour fundus pictures and biomarkers determined using macular scans on SD-OCT were noted. Six eyes with proliferative diabetic retinopathy (n-4) and considerable media opacity (n-2) were excluded. The data was entered into Microsoft Excel spreadsheet 2021and IBM's SPSS 26 statistical program was used to calculate the results.VA and biomarkers, which included central macular thickness, disorganisation of retinal inner layers (DRIL), ellipsoid zone disruption (EZD), choroidal thickness were measured on SD-OCT.: The mean age was 59.4±9.4 years, and male to female ratio was 1.3:1. Mean uncorrected and best corrected VA were 46 and 61 letters, 55.12±1.76 and 67.25±10.05 letters for moderate NPDR, 43.07±3.95 and 52.14±17.83 letters for severe NPDR, and 26.50±16.53 and 36±16.38 letters for very severe NPDR, respectively. VA deteriorated with increasing disease severity. Poorer VA was associated with increased average foveal and macular thickness and increased mean horizontal disruption of the inner retinal layers (DRIL). Average choroidal thickness positively correlated with increasing DR severity. : Poorer VA was associated with increasing DR severity, increased central retinal thickness, increased mean horizontal DRIL and increased average foveal choroidal thickness. We found no statistically significant correlation between VA and ellipsoid zone disruption.

Multimodal photoacoustic microscopy, optical coherence tomography, and fluorescence imaging of USH2A knockout rabbits

Usher syndrome type 2A (USH2A) is a genetic disorder characterized by retinal degeneration and hearing loss. To better understand the pathogenesis and progression of this syndrome, animal models such as USH2A knockout (USH2AKO) rabbits have been developed. In this study, we employed multimodal imaging techniques, including photoacoustic microscopy (PAM), optical coherence tomography (OCT), fundus autofluorescence (FAF), fluorescein angiography (FA), and indocyanine green angiography (ICGA) imaging to evaluate the retinal changes in the USH2AKO rabbit model. Twelve New Zealand White rabbits including USH2AKO and wild type (WT) were used for the experiments. Multimodal imaging was implemented at different time points over a period of 12 months to visualize the progression of retinal changes in USH2AKO rabbits. The results demonstrate that ellipsoid zone (EZ) disruption and degeneration, key features of Usher syndrome, began at the age of 4 months old and persisted up to 12 months. The EZ degeneration areas were clearly observed on the FAF and OCT images. The FAF images revealed retinal pigment epithelium (RPE) degeneration, confirming the presence of the disease phenotype in the USH2AKO rabbits. In addition, PAM images provided high-resolution and high image contrast of the optic nerve and the retinal microvasculature, including retinal vessels, choroidal vessels, and capillaries in three-dimensions. The quantification of EZ fluorescent intensity using FAF and EZ thickness using OCT provided comprehensive quantitative data on the progression of degenerative changes over time. This multimodal imaging approach allowed for a comprehensive and non-invasive assessment of retinal structure, microvasculature, and degenerative changes in the USH2AKO rabbit model. The combination of PAM, OCT, and fluorescent imaging facilitated longitudinal monitoring of disease progression and provided valuable insights into the pathophysiology of USH2A syndrome. These findings contribute to the understanding of USH2A syndrome and may have implications for the development of diagnostic and therapeutic strategies for affected individuals. The multimodal imaging techniques employed in this study offer a promising platform for preclinical evaluation of potential treatments and may pave the way for future clinical applications in patients with Usher syndrome.