Hemorrhagic Ligamentum Flavum Cyst in the Adjacent Level of Lytic Spondylolisthesis - A Case of Diagnostic and Therapeutic Dilemma.

Introduction: Occurrence of hemorrhagic cyst inside ligamentum flavum is a very rare phenomenon and presents with back pain, radiculopathy, or neurogenic claudication. Various causes reported in the literature are trauma, anticoagulant therapy, and increased micromotion in the setting of unstable and degenerated motion segment. Case Report: We report a case of 41-year-old male patient who presented with claudication pain in both lower limbs for the past 6 months associated with bilateral calf atrophy. Plain radiograph with dynamic films showed lytic spondylolisthesis at L4-L5 level. Magnetic resonance imaging revealed a hemorrhagic cyst inside ligamentum flavum at the L3-L4 level occupying the posterior epidural space severely compressing the thecal sac. After a thorough diagnostic and therapeutic work up, we did a midline sparing decompression of L3-L4 level under microscope without fixing the listhetic segment. The patient had significant pain relief after surgery and doing well till now. Conclusion: In general, hemorrhagic cyst of ligamentum flavum is seen in a degenerated lumbar spine at the areas of increased micromotion and instability. Our case has shown that it can also occur in an adjacent segment of spondylolisthesis or instability. The obvious finding like listhesis in the adjacent segment may hinder a spine surgeon from diagnosing the cyst component and may guide to a erroneous treatment outline. Hence, it should not be missed in the imaging.

Ocular manifestation of vertical transmission of dengue: case report / Manifestação ocular de transmissão vertical de dengue: relato de caso

ABSTRACT A 7-week-old male delivered by cesarean section presented with a positive serology for dengue along with preretinal and retinal hemorrhages, vitreous opacities and cotton wool spots. The patient and his mother had positive serologies for Non Structural Protein 1 (NS1) by ELISA. Retinal and vitreous findings improved over a sixteen-week period. Spectral domain optical coherence tomography (OCT) showed preserved macular architecture. In this case report, we suggest that retinal and vitreous changes may be the ocular presenting features of vertically transmitted dengue in newborns, and that those findings may resolve with no major structural sequelae.

RESUMO Neonato de 7 semanas, do sexo masculino, nascido de parto cesárea, apresentou sorologia positiva para dengue com hemorragias retinianas e pré-retinianas, opacidades vítreas e manchas algodonosas. O paciente e sua mãe haviam apresentado sorologias positivas para Non Structural Protein 1 através de ELISA. Achados na retina e no vítreo melhoraram em um período de dezesseis semanas. O exame de tomografia de coerência óptica de domínio espectral demonstrou arquitetura macular preservada. Neste relato de caso, sugerimos que alterações na retina e no vítreo podem ser os achados oculares aparentes em neonatos com infecção vertical por dengue, e que estes podem se resolver sem maiores sequelas estruturais.

A 66-year-old woman with two weeks of distorted vision in the left eye.

PURPOSE: To report a case of concurrent melanoma metastasis to the orbit and MEK inhibitor-associated retinopathy. METHODS: Case report of a 66-year-old female patient undergoing mutation targeted MEK-inhibitor treatment for metastatic melanoma with retinal manifestations. RESULTS: After initiating MEK-inhibitor therapy our patient presented with bilateral blurred vision. Clinical examination and OCT imaging revealed multifocal bilateral serous retinal detachments consistent with MEKAR. Extrafoveal subretinal fluid foci resolved after discontinuation of MEK-inhibitor therapy, but her foveal lesions persisted for over 18 months. Years after her initial evaluation for MEKAR, our patient developed metamorphopsia in the left eye resulting from chorioretinal folds secondary to intraconal orbital metastasis. MRI revealed additional intracerebral and lung metastases, and the patient expired in 2 months. CONCLUSION: We report a case of prolonged MEKAR with concomitant orbital metastasis from melanoma. Multimodal imaging in conjunction with history and clinical features allows for disease identification and monitoring.

NONSYNDROMIC RETINITIS PIGMENTOSA WITH BILATERAL RETINAL NEOVASCULARIZATION DUE TO HGSNAT MUTATION.

PURPOSE: To describe a case of nonsyndromic retinitis pigmentosa caused by presumed compound heterozygous A615T and T522M mutations in HGSNAT, characterized by bilateral cystoid macular edema and retinal neovascularization. METHODS: Case report. The patient underwent clinical evaluation, multimodal imaging, and next-generation panel sequencing. In silico analysis was performed with PolyPhen-2, SIFT, and MutationTaster. Segregation analysis was not available. RESULTS: A 35-year-old hypertensive man presented with nyctalopia, photopsia, and difficulty reading for six months. He had no family history of visual deficits. The best-corrected visual acuity was 20/25 in the right eye and 20/20 in the left eye. Examination revealed midperipheral bone spicules and macular neovascularization in both eyes. Multimodal imaging demonstrated cystoid macular edema, ellipsoid band loss outside the central macula, and leakage from the neovascularization in both eyes. Sequencing detected four mutations in three genes, including two heterozygous mutations in HGSNAT (c.1843G>A, p.A615T and c.1565C>T, p.T522M). A615T is a pathogenic, hypomorphic mutation. T522M has not been previously phenotypically described. It is predicted damaging by in silico analysis and occurs at a conserved position near the eighth transmembrane domain, adjacent to residues in which missense mutations result in protein misfolding. CONCLUSION: This is, to the best of our knowledge, the first reported case of retinal neovascularization in a case of nonsyndromic retinitis pigmentosa due to HGSNAT mutation. The T522M variant likely functions as a severe mutation alongside the hypomorphic A615T mutation. These findings expand the genotypic and phenotypic spectrum of nonsyndromic retinitis pigmentosa.

NIVOLUMAB-INDUCED HARADA-LIKE UVEITIS WITH BACILLARY DETACHMENT MIMICKING CHOROIDAL METASTASIS.

PURPOSE: To describe a patient with metastatic clear cell renal cell carcinoma in remission on maintenance nivolumab therapy who developed late-onset ocular toxicity manifesting as creamy chorioretinal lesions with exudative retinal detachment concerning for choroidal metastasis. METHOD: Case report. Main outcome measures include ophthalmoscopic examination, fundus photography, fundus autofluorescence, fluorescein angiography, indocyanine green angiography, spectral domain optical coherence tomography, and B-scan ultrasonography. RESULTS: A 49-year-old woman with a medical history of metastatic clear cell renal cell carcinoma in remission for two years after immunotherapy with four cycles of ipilimumab and nivolumab followed by maintenance nivolumab infusions developed lesions concerning for choroidal metastases in her right eye. Optical coherence tomography of the lesions revealed a bacillary layer detachment containing possible fibrinous exudate organized into layers and underlying choroidal thickening with chorioretinal folds. Later, choroidal thickening and chorioretinal folds also occurred in the left eye. Given that pan imaging detected no metastasis and the posterior segment abnormalities resolved after cessation of nivolumab and treatment with systemic corticosteroids, the patient was diagnosed with nivolumab-induced Vogt-Koyanagi-Harada-like uveitis. CONCLUSION: This case expands on the clinical spectrum of nivolumab-induced Vogt-Koyanagi-Harada-like uveitis, a condition that can also present with bacillary layer detachment mimicking an early choroidal metastasis, manifest asymmetrically in each eye, and develop after long-standing treatment.

A 48-YEAR-OLD CAUCASIAN MAN WITH UNILATERAL "SMUDGE" IN INFERIOR VISUAL FIELD.

PURPOSE: To report an increasingly prevalent fundoscopic manifestation of syphilitic uveitis. METHODS: Case report of a patient with acute retinal necrosis secondary to syphilis. RESULTS: A 48-year-old man presented with decreased vision, anterior segment inflammation, and a wedge-shaped retinal lesion in the superior periphery, with a diaphanous leading edge extending down toward the superior arcade. The patient was HIV+ and poorly compliant with therapy. The top three differential diagnoses were herpetic necrotizing retinitis, syphilis, and lymphoma. An extensive lab workup was positive for syphilis. The patient was treated with IV penicillin G and demonstrated improvement in visual acuity and examination. CONCLUSION: There have been an increasing number of reports of syphilis patients, especially in the population of men who have sex with men, who present with fundus findings similar to acute retinal necrosis. These findings include a characteristic ground glass, translucent appearance of unifocal or multifocal lesions, primarily affecting the inner retina and sometimes associated with co-localizing occlusive vasculitis. Treatment with IV penicillin G is warranted and has demonstrated good visual recovery.

Concurrent Waldenstrom's Macroglobulinemia and Myelodysplastic Syndrome with a Sequent t(10;13)(p13;q22) Translocation.

Myelodysplastic syndromes (MDS) and Waldenstrom's macroglobulinemia (WM) are rarely synchronous. Ineffective myelopoiesis/hematopoiesis with clonal unilineage or multilineage dysplasia and cytopenias characterize MDS. Despite a myeloid origin, MDS can sometimes lead to decreased production, abnormal apoptosis or dysmaturation of B cells, and the development of lymphoma. WM includes bone marrow involvement by lymphoplasmacytic lymphoma (LPL) secreting monoclonal immunoglobulin M (IgM) with somatic mutation (L265P) of myeloid differentiation primary response 88 gene (MYD88) in 80-90%, or various mutations of C-terminal domain of the C-X-C chemokine receptor type 4 (CXCR4) gene in 20-40% of cases. A unique, progressive case of concurrent MDS and WM with several somatic mutations (some unreported before) and a novel balanced reciprocal translocation between chromosomes 10 and 13 is presented below.

Multimodal imaging of soccer ball-related ocular posterior segment injuries.

PURPOSE: To investigate the clinical and anatomic characteristics of soccer ball-induced posterior segment injuries in the era of modern multi-modal imaging. METHODS: Retrospective case series of patients with soccer ball injury and diagnostic imaging from 2007 to 2020 at a single vitreoretinal practice. RESULTS: Eight patients met inclusion criteria. Fundus photographs (FP) and optical coherence tomography (OCT) were obtained in eight patients, fundus autofluorescence (FAF) in five patients, fluorescein angiography (FA) in three patients, and en-face OCT and OCT-Angiography (OCT-A) were obtained in two patients each. FA and FAF identified traumatic pigment epitheliopathy secondary to commotio. Increased hypo-autofluorescence was associated with shallow, peripheral retinal detachment on FAF. OCT of the macula displayed outer retinal changes associated with commotio, and offered insight into the acute and subacute changes of traumatic macular hole formation. A patient displayed foveal hyper-reflectivity in the shape of an hourglass with retinal cyst at the level of the external limiting membrane (ELM) as seen on OCT and En-face OCT. A patient with commotio involving the macula lacked microvascular changes on OCT-A. CONCLUSION: OCT, FA, and FAF imaging may aid in the work-up and management of the soccer ball-related posterior segment injuries.

OCULAR INJURIES ASSOCIATED WITH ELASTIC EXERCISE BANDS.

PURPOSE: To discuss the mechanism of injury and characterize the clinical features of ocular trauma associated with elastic cord exercise equipment band injuries in a consecutive series of patients seen at a single vitreoretinal surgery practice. METHODS: We performed a retrospective review of all patients who were treated for blunt trauma from 2013 to 2020 at a single vitreoretinal practice. RESULTS: Thirteen eyes from 11 patients met the inclusion criteria of possessing ocular trauma secondary to recoil from exercise bands. Presenting visual acuity ranged from 20/16 to HM (median: 20/32). The most frequently observed anterior segment pathologies were traumatic iritis (54%) and angle recession (31%). The most common posterior segment findings were vitreous hemorrhage (54%) and peripheral commotio retinae (54%). Three eyes (23%) required surgical intervention. Follow-up intervals ranged from 0 to 10 months (median: 1.75 months). Visual acuity at last examination ranged from 20/13 to 20/400 (median: 20/40). CONCLUSION: A wide spectrum of serious ocular injuries requiring medical and surgical intervention can result from this form of blunt ocular trauma. The frequency of this event would be decreased by the use of sports goggles and careful inspection of equipment for wear and over use.

REACTIVE AMYLOID A PROTEIN AMYLOIDOSIS IN THE SETTING OF INFECTIVE ENDOCARDITIS MANIFESTING AS BILATERAL ORBITOPATHY AND CHOROIDOPATHY.

PURPOSE: To describe a case of amyloid A protein amyloidosis that produced an orbital inflammatory response with a novel presentation. METHODS: Case report. RESULTS: A 24-year-old Caucasian women with a history of intravenous heroin use was hospitalized for tricuspid valve endocarditis and methicillin-resistant Staphylococcus aureus bacteremia, as well as acute renal failure. She received hemodialysis and intravenous daptomycin and had negative blood cultures for 3 weeks, when she developed sudden bilateral orbital swelling and blurred vision. Visual acuity was 20/200 in the right eye and 20/400 in the left eye. Examination revealed proptosis, conjunctival chemosis and desiccation, optic disk swelling, creamy choroidal infiltrates, and inferiorly located exudative retinal detachments in both eyes. Multimodal imaging demonstrated thickening of the sclera, choroid, and choriocapillaris as well as outer retinal disruption, subretinal fluid, and deposits of hyperfluorescent debris within the choriocapillaris, outer retina, and vitreous. Oral prednisone at 60 mg per day resolved the choroidal infiltrates and exudative detachments. Persistent nephrotic syndrome called for a renal biopsy, which demonstrated amyloid A protein amyloidosis. CONCLUSION: Orbital and choroidal Amyloid A protein amyloidosis can induce a local inflammatory response manifesting as orbital swelling, papillitis, posterior scleritis, choroiditis, and exudative retinal detachment, which responds to steroid therapy. The underlying pathology is likely a reactive inflammatory, vasoocclusive process involving the choriocapillaris and orbital vasculature to the presence of amyloid fibrils.

RETINAL PIGMENT EPITHELIAL LESIONS ASSOCIATED WITH A SPORADIC CASE OF FAMILIAL ADENOMATOUS POLYPOSIS.

PURPOSE: To report a sporadic case of a familial adenomatous polyposis (FAP) discovered in a patient with bilateral retinal pigment epithelial lesions. METHODS: Case report. RESULTS: A 30-year-old Asian woman presented for evaluation of bilateral pigmented lesions at the level of the retinal pigment epithelium. She had no personal or family history of colonic polyps or colon cancer. Colonoscopy revealed innumerable adenomatous polyps and genetic testing revealed a mutation in the adenomatous polyposis coli gene consistent with FAP. She subsequently underwent prophylactic total colectomy. CONCLUSION: The pigmented retinal pigment epithelium lesions of FAP have a characteristic appearance and it is vital for the retinal specialist to be familiar with them. De novo mutations in the APC gene are responsible for 20% to 30% of FAP cases. In the presence of the characteristic retinal pigment epithelium lesions, it is important to send the patient for work up of FAP even in the absence of family history of FAP.

Clinical course of von Szily reaction: Case report and comprehensive review of the literature.

PURPOSE: To describe a rare case of von Szily reaction (VSR) accompanied by a comprehensive review of the literature. OBSERVATIONS: A 57-year-old woman with herpes zoster ophthalmicus (HZO) associated with ipsilateral sectoral scleritis and anterior uveitis (sclerouveitis) subsequently developed contralateral necrotizing retinitis, leading to a diagnosis of VSR. A literature review revealed 10 additional cases of VSR. The full VSR cohort of 11 subjects included six women and five men, had a median age of 39 years (range 21-78 years), and most presented with HZO (n = 7, 63.6%), often associated with either ipsilateral anterior uveitis (n = 5; 45.5%) or keratitis (n = 4; 36.4%). All 11 cases developed necrotizing retinitis in the fellow eye, at a median of six weeks following onset in the sentinel eye. The most frequently implicated agent was varicella zoster virus (VZV; n = 8, 72.7%). A high proportion of the eight patients with VZV-associated VSR were identified as having increased risk of VZV reactivation, including age of 50 years or greater (n = 5, 62.5%), an underlying malignancy (n = 3, 37.5%), and/or use of immunosuppressive medication (n = 2, 25.0%). CONCLUSION: This was the first reported case of VSR presenting as HZO-associated with sclerouveitis. A comprehensive literature review revealed that most previously reported cases presented with HZO associated with isolated anterior uveitis and/or keratitis, and that all reported cases of VSR developed necrotizing retinitis in the fellow eye, typically within two months of initial presentation. Patients with VZV-associated VSR often had known risk factors for VZV reactivation.

IMMUNE RETINOPATHY ASSOCIATED WITH NIVOLUMAB ADMINISTRATION FOR METASTATIC NON-SMALL CELL LUNG CANCER.

PURPOSE: To present a novel case of immune retinopathy associated with nivolumab therapy for non-small cell lung cancer. METHODS: Retrospective chart review. RESULTS: A 64-year-old woman presented with photoreceptor injury evidenced by hypoautofluorescent and hyperautofluorescent patches on fundus autofluorescence, loss of the ellipsoid zone on optical coherence tomography, and dysfunction of the rods and cones on electroretinogram. She had a history of Stage IV lung adenocarcinoma, treated with nivolumab, a checkpoint inhibitor. Serology testing was negative for paraneoplastic antibody panel, antirecoverin and antienolase antibodies, but positive for antiretinal antibodies against 30-kDa (carbonic anhydrase II), 35-kDa (GADPH), 38-kDA, 58-kDa (PKM2), and 112-kDa proteins. Cessation of the medication and high-dose oral steroids resulted in resolution of her symptoms and stability of ocular findings. CONCLUSION: The checkpoint inhibitors, including nivolumab, have significant ocular side effects. All patients receiving nivolumab should undergo a baseline comprehensive eye examination and should be counseled to seek medical attention immediately if visual changes occur.

Idiopathic Acute Exudative Polymorphous Vitelliform Maculopathy: Clinical Spectrum and Multimodal Imaging Characteristics.

PURPOSE: To describe clinical findings in patients with acute exudative polymorphous vitelliform maculopathy (AEPVM). DESIGN: Retrospective, observational, multicenter case series review. PARTICIPANTS: Consecutive patients diagnosed with idiopathic AEPVM. METHODS: Review of clinical charts, multimodal imaging, electrophysiologic findings, and genetic findings in previously unpublished patients and review of the literature. MAIN OUTCOME MEASURES: Clinical features of idiopathic AEPVM and differential diagnosis. RESULTS: Eighteen patients (age range, 21-74 years) with typical features of AEPVM, including initial localized, serous detachments followed by the development of characteristic yellow-white deposits in the vitelliform space. Over time, this hyperautofluorescent material gravitated within the larger lesions, resulting in typical curvilinear deposits characteristic of later stages. Symptoms and clinical findings lasted from weeks to several years. Some patients showed previously undescribed features such as fluorescein-negative intraretinal cystic changes, choroidal neovascularization, serous retinal elevations mimicking retinal folds, increased choroidal thickness, lack of rapid visual recovery, and recurrence years after complete resolution of initial manifestations. CONCLUSIONS: Acute exudative polymorphous vitelliform maculopathy can present with a more variable natural course than previously described. Paraneoplastic retinopathy and autosomal recessive bestrophinopathy closely resemble AEPVM, necessitating medical and hereditary evaluation to exclude these clinical possibilities. This series of patients with AEPVM expands the clinical spectrum of the disorder, including demographics, clinical manifestations, imaging features, natural course, and visual prognosis.

MULTIMODAL IMAGING OF THE RETINA AND CHOROID IN SYSTEMIC AMYLOIDOSIS.

PURPOSE: To present the multimodal imaging findings of four patients with systemic amyloidosis, renal failure, and chorioretinopathy. METHODS: Retrospective analysis of four patients presenting to four institutions with evidence of amyloid induced chorioretinopathy. Fundus photography, autofluorescence, and spectral domain optical coherence tomography findings were studied and are presented. RESULTS: Four patients with biopsy-proven systemic amyloidosis demonstrated progressive chorioretinal degeneration with color fundus photography and autofluorescent imaging. With spectral domain optical coherence tomography analysis, amyloidosis-induced chorioretinopathy was characterized by a widened choriocapillaris band, choroidal infiltration, diffuse photoreceptor dysfunction, and thinning of the outer nuclear layer. CONCLUSION: Multimodal imaging including spectral domain optical coherence tomography analysis in eyes of patients with systemic amyloidosis shows deposition in the choroid. The deposition may cause a secondary toxic and or barrier effect resulting in diffuse retinal pigment epithelium and photoreceptor dysfunction.

Prospective Retinal and Optic Nerve Vitrectomy Evaluation (PROVE) study: findings at 3 months.

BACKGROUND: The purpose of this paper is to report the 3-month findings of the Prospective Retinal and Optic Nerve Vitrectomy Evaluation (PROVE) study. METHODS: Eighty eyes of 40 participants undergoing vitrectomy were enrolled. Participants underwent baseline evaluation of the study (surgical) and fellow (control) eye that included: intraocular pressure, central corneal thickness, gonioscopy, cup-to-disc ratio measurement, color fundus and optic disc photography, automated perimetry, and optical coherence tomography of the macula and optic nerve. Evaluation was repeated at 3 months. Main outcome measures were changes in macula and retinal nerve fiber layer (RNFL) thickness and intraocular pressure. RESULTS: All participants completed follow-up. Mean cup-to-disc ratio of study and fellow eyes at baseline was 0.43 ± 0.2 and 0.46 ± 0.2, respectively, and 13% of participants had undiagnosed narrow angles. There was no significant change in intraocular pressure, cup-to-disc ratio, or pattern standard deviation in study eyes compared with baseline or fellow eyes at 3 months. Vision improved in all study eyes at 3 months compared with baseline (P = 0.013), but remained significantly worse than fellow eyes (P < 0.001). Central subfield and temporal peripapillary RNFL thickness were significantly greater in eyes with epiretinal membrane (P < 0.05), and resolution after surgery correlated with visual improvement (P < 0.05). CONCLUSION: The 3-month results do not indicate any increased risk for open-angle glaucoma but suggest that a relatively high percentage of eyes may be at risk of angle closure glaucoma. Temporal RNFL thickness and central subfield were increased in eyes with epiretinal membrane, and resolution correlated with degree of visual recovery.

Genetic factors in nonsmokers with age-related macular degeneration revealed through genome-wide gene-environment interaction analysis.

Relatively little is known about the interaction between genes and environment in the complex etiology of age-related macular degeneration (AMD). This study aimed to identify novel factors associated with AMD by analyzing gene-smoking interactions in a genome-wide association study of 1207 AMD cases and 686 controls of Caucasian background with genotype data on 668,238 single nucleotide polymorphisms (SNPs) after quality control. Participants' history of smoking at least 100 cigarettes lifetime was determined by a self-administered questionnaire. SNP associations modeled the effect of the minor allele additively on AMD using logistic regression, with adjustment for age, sex, and ever/never smoking. Joint effects of SNPs and smoking were examined comparing a null model containing only age, sex, and smoking against an extended model including genotypic and interaction terms. Genome-wide significant main effects were detected at three known AMD loci: CFH (P = 7.51×10(-30) ), ARMS2 (P = 1.94×10(-23) ), and RDBP/CFB/C2 (P = 4.37×10(-10) ), while joint effects analysis revealed three genomic regions with P < 10(-5) . Analyses stratified by smoking found genetic associations largely restricted to nonsmokers, with one notable exception: the chromosome 18q22.1 intergenic SNP rs17073641 (between SERPINB8 and CDH7), more strongly associated in nonsmokers (OR = 0.57, P = 2.73 × 10(-5) ), with an inverse association among smokers (OR = 1.42, P = 0.00228), suggesting that smoking modifies the effect of some genetic polymorphisms on AMD risk.