Ellipsoid Zone Disruption Research Articles

Optical coherence tomography characteristics in hydroxychloroquine retinopathy and the correlations with visual deterioration in Taiwanese

Abstract PURPOSE: This study aimed to investigate optical coherence tomography (OCT) characteristics in hydroxychloroquine (HCQ) retinopathy and their correlation with visual acuity among Taiwanese patients. MATERIALS AND METHODS: We retrospectively recruited patients undergoing long-term HCQ treatment who had received examinations of best-corrected visual acuity and OCT scans. We observed disruptions in the ellipsoid zone (EZ) and retinal pigment epithelium (RPE) across different retinal regions. Principal component analysis (PCA) was employed to identify the most significant factors associated with visual deterioration. RESULTS: Among the 120 eyes included in the study, HCQ retinopathy was present in 42 eyes (35.0%). In patients with mild-to-moderate retinopathy, the pericentral pattern was predominant (75.0%), whereas no parafoveal pattern was observed. Serial examinations revealed that lesions typically progressed from pericentral to parafoveal and foveal regions. EZ disruption was observed in all affected cases, most frequently at the pericentral region (100%), followed by the perifoveal (87.4%), parafoveal (72.1%), and foveal (43.2%) regions. RPE disruption was noted in 59.5% of cases, with the highest prevalence at the pericentral (53.2%) and perifoveal (52.3%) regions, followed by the parafoveal (33.3%) and foveal (28.8%) regions. PCA identified RPE disruption at the fovea and parafoveal regions as the most strongly correlated factors for visual deterioration. CONCLUSIONS: In Taiwanese patients, HCQ retinopathy predominantly manifests with pericentral lesions, while isolated parafoveal lesions are rare as an initial presentation. RPE disruption, rather than EZ disruption, appears to be the primary determinant for visual deterioration in this population.

Structural effects of intraretinal cysts on outer retinal layers in eyes with diabetic macular edema

BackgroundDiabetic macular edema (DME) is the main cause of visual loss in individuals with diabetic retinopathy (DR). This study aims to investigate the effects of central macular intraretinal cysts on the underlying outer retinal layer (ORL) in patients with diabetic macular edema (DME).MethodsIn this retrospective and cross-sectional study, diabetic patients with or without DR were categorized into three groups: without DME (group 1), with DME but without any cyst featuring a plateau in the lower region (group 2), and patients with cyst featuring an inferior cyst plateau (group 3), defined as a flat conformation at its posterior aspect. Variables such as central macular intraretinal cyst height, inferior cyst plateau, and ORL thickness were measured, and ellipsoid zone (EZ) disruption was assessed via Spectral-domain optical coherence tomography (SD-OCT) and compared between groups. Correlations between OCT-measured variables and best-corrected visual acuity (BCVA) were investigated.ResultsA total of 164 eyes were included: 48 in group 1, 47 in group 2 and 69 in group 3. Compared with Groups 1 and 2, Group 3 presented a greater intraretinal cyst height (p < 0.001), a thinner mean ORL beneath the cysts (p < 0.0001) and more frequent EZ disruption (p < 0.0001), which was associated with lower BCVA values. Cyst height, cyst plateau and ORL thickness were significantly correlated with BCVA (p < 0.0001). EZ disruption was associated with the cyst height, the cyst plateau and the underlying ORL thickness. Correlations were observed between cyst height and ORL thickness (r = − 0.32, p < 0.001), between cyst height and cyst plateau (r = 0.60, p < 0.001), and between cyst plateau and ORL thickness (r = − 0.56, p < 0.001). Every increase of 10 μm in plateau width and in cyst height results in reductions of 0.16 μm and 0.29 μm in ORL thickness, respectively, independent of the other parameters. The optimal cutoff point for cyst height that best discriminates plateau formation was determined to be 130.5 μm, with a sensitivity of 89.9% and specificity of 83%.ConclusionsIn patients with DME, large central intraretinal cysts may assume a flat configuration in their lower region, termed a plateau, and are associated with photoreceptor damage due to compression, which can result in visual impairment. These findings can be understood based on modified Hertz’s mechanical contact theory.

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.

Macular Outer Retinal Atrophy Following Vitrectomy and Hypotony: Two Cases.

To characterize two cases of focal outer retinal atrophy and hypotony after vitrectomy. Retrospective chart review of two patients' records between 2019 and 2023. Patient 1 underwent vitrectomy, epiretinal membrane peel, and cataract extraction for visually significant macular pucker. She developed hypotony without a wound leak and was noted to have a focal parafoveal area of ellipsoid zone disruption by 1 week post-operatively, which evolved into outer retinal and chorioretinal atrophy within 6 weeks after surgery. This area of atrophy remained stable in size, but the patient later reported a paracentral scotoma. Patient 2 had multiple previous surgeries for retinal detachment with proliferative vitreoretinopathy. Seven years later, the IOL dislocated and was exchanged with scleral fixation of a new IOL. On post-operative day 1, he had hypotony with macular folds secondary to a leaking sclerotomy wound. The sclerotomies were sutured on post-operative day 3, and his intraocular pressure normalized. However, he developed a central, focal area of chorioretinal atrophy within 1 week of the initial surgery. The size of this area of atrophy remained stable over years but resulted in reduced central vision. Hypotony following vitrectomy may rarely predispose patients to the development of focal chorioretinal atrophy.

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.

MERTK Inhibitor Associated Retinal Toxicity in a Human.

The MER proto-oncogene tyrosine kinase (MERTK) helps maintain the homeostasis of the retinal pigmented epithelium (RPE). Additionally, MERTK regulates the innate immune system. As such inhibition of MERTK has gained recent interest as a target for cancer therapeutics. Herein, we present on MERTK inhibitor associated retinal toxicity in a human. A 43-year-old male with past medical history of esophageal adenocarcinoma was enrolled in a trial studying the MERTK inhibitor PF-07265807. As part of the study protocol, the patient was seen every two to three weeks for dilated fundus exams and ancillary testing. Data on the patient's relevant past medical history, ophthalmic exam findings, and imaging performed at baseline and subsequent ophthalmology visits was obtained via retrospective chart review. At the patient's baseline visit, his dilated exam and testing were normal. Seven months after starting the MERTK inhibitor the patient developed subtle but reproducible signs of retinal toxicity with disruption of the extrafoveal ellipsoid zone on optical coherence tomography and extrafoveal hyper-autofluorescence on short wavelength fundus autofluorescence. The patient's vision remained stable throughout the study; however, the medication was stopped due to the unknown ocular effects as well as progression of the patient's cancer. Patients taking MERTK inhibitors should be monitored by an ophthalmologist while on the drug. If toxicity develops, discussion of whether to continue the medication should take place between the patient, ophthalmologist, and oncologist, with consideration of the risks of vision loss versus benefits of taking the medication from a cancer perspective.

Macular Optical Coherence Tomography Findings in Patients With Syphilitic Optic Neuropathy-A Case Series and Systematic Review.

Syphilis is a sexually or congenitally acquired infectious disease that can affect multiple organs systems, including the eye. When left undiagnosed and untreated, it can lead to significant morbidity and mortality. Syphilitic optic neuropathy can be difficult to diagnose because it can mimic many other nonsyphilitic causes of optic nerve involvement, leading to delay in treatment. Diagnosing ocular syphilis may be facilitated by assessing for specific outer retina abnormalities on macular optical coherence tomography (OCT). This was a case series and case-based systematic review. For the case series, a retrospective chart review was conducted of all patients who presented to a tertiary university-affiliated neuro-ophthalmology practice over 6 months with undifferentiated optic neuropathy and were eventually diagnosed with syphilitic optic neuropathy. For the systematic review, OVID MEDLINE, EMBASE, and COCHRANE CENTRAL databases were searched to identify all cases of syphilitic optic neuropathy with macular OCT. The primary research outcome was the prevalence of cases with outer retinal abnormalities on OCT. Four cases were identified that were eligible for inclusion. The ages ranged from 27 to 62 years old, and 2 of the patients were female. On examination, vision ranged from Snellen 20/50 to hand motion; all patients had optic neuropathy, and macular OCT revealed chorioretinitis characterized by retinal pigment epithelium (RPE) excrescences. The patients subsequently underwent uveitis workup and were diagnosed with syphilis. They were treated with intravenous penicillin and showed improvement in outer retina appearance on follow-up. The systematic review consisted of 24 cases and 35 eyes with syphilitic optic neuropathy and reported macular OCT findings. Eighty-three percent (20/24) were males, and the mean age was 47.7 years (SD: 49.2). The mean visual acuity at presentation was Snellen 20/57. On fundoscopy, 25.7% (9/35) of eyes had vitritis, whereas 22.8% (8/35) had placoid chorioretinal lesions. On OCT, 45.7% (16/35) of eyes had abnormal outer retina findings, most commonly disruption of the ellipsoid zone (EZ) and/or RPE excrescences. All patients were treated with penicillin or ceftriaxone, and final mean visual acuity was Snellen 20/29. All 4 patients identified in the case series, and nearly half of patients with syphilitic optic neuropathy described in the literature had concurrent-specific outer retina abnormalities (disruption of EZ and/or placoid chorioretinitis in the form of RPE excrescences) seen on macular OCT. We recommend that clinicians obtain macular OCT for all patients presenting with undifferentiated optic neuropathy.

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.

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.

Risk factors for development of hyper-reflective foci overlying drusen in eyes with intermediate age-related macular degeneration

AimsThe aim of this study is to assess baseline characteristics of drusen preceding the development of intraretinal hyper-reflective foci (IHRF) in eyes with intermediate age-related macular degeneration (AMD).MethodsIn this retrospective...

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.

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.

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.

OCT Biomarkers in Ocular CLN2 Disease in Patients Treated With Intraventricular Enzyme Replacement Therapy.

Bilateral progressive, symmetrical loss of central retinal thickness (CRT) has been described in neuronal ceroid lipofuscinosis type 2 (CLN2) disease. This study details the pattern of morphological changes underlying CRT loss and disease progression in patients receiving intracerebroventricular (ICV) enzyme replacement therapy (ERT) with cerliponase alfa. Spectral-domain optical coherence tomography macular cube scans were collected from 16 patients with classic CLN2 disease receiving ICV ERT. Detailed retinal structure analyses were performed on manually segmented horizontal B-scans through the fovea to determine the thickness of six retinal parameters and the extent of ellipsoid zone (EZ) loss. Anatomical changes primarily occurred in photoreceptor (PR)-related retinal parameters and correlated with ocular disease severity. Retinal degeneration began with initial focal parafoveal EZ discontinuities signaling the onset of rapid PR degeneration in a predictable pattern: parafoveal PR involvement with foveal sparing followed by profound parafoveal and foveal PR loss with additional thinning beyond the central retina. PR degeneration began with outer segment loss and progressed to outer nuclear layer (ONL) involvement. Longitudinal analyses confirmed these observations. The rate of PR loss was fastest at the fovea at ∼58 mm per year and became slower at locations farther away from the fovea. Retinal degeneration in CLN2 disease is primarily associated with PR loss in a predictable pattern, with EZ disruption signaling early PR stress. CRT, ONL thickness, and PR layer thickness are useful anatomical biomarkers for understanding disease progression and treatment efficacy in CLN2. Studies using en face images will further clarify CLN2-related retinal degeneration.

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.

Genetics in neovascular age-related macular degeneration susceptibility and treatment response to anti-VEGF intravitreal injection: A case series study.

To identify genotypes associated with neovascular age-related macular degeneration (nAMD) and investigate the associations between genotype variations and anti-vascular endothelial growth factor (VEGF) treatment response. This observational, retrospective, case series study enrolled patients diagnosed with nAMD who received anti-VEGF treatment in National Taiwan University Hospital with at least one-year follow-up between 2012 and 2020. A genome-wide association study (GWAS) was conducted on enrolled patients and controls. Correlations between the genotypes identified from GWAS and the treatment response of functional/anatomical biomarkers, including visual acuity (VA), presence of intraretinal or subretinal fluid (SRF), serous or fibrovascular pigmented epithelium detachment (PED), and disruption of the ellipsoid zone (EZ), were analysed. In total, 182 patients with nAMD and 1748 controls were enrolled. GWAS revealed 16 single nucleotide polymorphisms (SNPs) as risk loci for nAMD, including seven loci in CFH and ARMS2/HTRA1 and nine novel loci, including rs117517872 and rs79835234(COPB2-DT), rs7525578(RAP1A), rs2123738(LOC105376755), rs1374879(CNTN3), rs3812692(SAR1A), rs117501587(PRKCA), rs9965945(CNDP1), and rs189769231(MATK). Our study revealed rs800292(CFH), rs11200638(HTRA1), and rs2123738(LOC105376755) correlated with poor treatment response in VA (P = 0.005), SRF (P = 0.044), and fibrovascular PED (P = 0.007), respectively. Rs9965945(CNDP1) was correlated with poor response in disruption of EZ (P = 0.046) and serous PED (P = 0.049). Among the 16 SNPs found in the GWAS, four loci-CFH, ARMS2/HTRA1, and two novel loci-were correlated with the susceptibility of nAMD and anatomical/functional responses after anti-VEGF treatment.

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.

Acquired Vitelliform Lesions in Intermediate Age-Related Macular Degeneration: A Cross Sectional Study

PurposeThis study aims to define the characteristics of acquired vitelliform lesions (AVLs) in patients with intermediate age-related macular degeneration (iAMD). DesignRetrospective, observational, cross-sectional study SubjectsThis study included 217 eyes with AVLs associated with iAMD, and an equivalent number of control patients. MethodsOptical coherence tomography (OCT) scans were evaluated for qualitative and quantitative parameters at both the eye and lesion level. Eye-level parameters included the presence of: hyporeflective core drusen, intraretinal hyperreflective foci (IHRF), subretinal drusenoid deposits, macular pachyvessels, central retinal thickness, and central choroidal thickness (CCT). Lesion-level qualitative parameters included the presence of ellipsoid zone (EZ) and external limiting membrane disruption overlying the AVL, IHRF overlying the AVL, AVL overlying drusen, pachyvessels under the AVL, a solid core within AVL, and AVL location. Lesion-level quantitative characteristics included AVL height and width, AVL distance from the fovea, and sub-AVL choroidal thickness. Main Outcome MeasuresThe primary outcomes assessed included the frequency of iHRF, the presence of macular pachyvessels, CCT, and the dimensions (both height and width) of AVLs. ResultsComparing the AVL and control groups, the frequency of IHRF (AVL: 49.3% vs. control: 26.3%) and macular pachyvessels (37.3% vs. 6.9%) was significantly higher in the AVL case group, and the CCT (256.8 ± 88 μm vs. 207.1± 45 μm) was thicker in the AVL group. AVL lesions located over drusen, with overlying IHRF, or situated subfoveally, and AVL lesions with EZ disruption were found to have a greater lesion height and width compared to AVL lesions lacking these characteristics (P-value < 0.001 for all). Additionally, a significant negative correlation was observed between the distance from the fovea and AVL height (Spearman's rho: -0.19, P = 0.002) and width (Spearman’s rho: -0.30, P = 0.001). ConclusionsThis study represents the largest reported cohort of AVL lesions associated with iAMD. Novel findings include the higher frequency of pachyvessels in addition to the presence of a thicker choroid in these eyes, as well as the greater height and width of AVL closer to the foveal center. These findings may offer insights into pathophysiologic mechanisms underlying the development of AVL.

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.