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PURPOSE: To assess the impact of submacular fluid (SMF) after pneumatic retinopexy for primary rhegmatogenous retinal detachment repair. METHODS: Retrospective review of consecutive patients treated with pneumatic retinopexy for primary rhegmatogenous retinal detachment repair. 387 eyes (374 patients) were included, of which 166 underwent optical coherence tomography imaging after successful pneumatic retinopexy. Foveal-centered optical coherence tomography scans were reviewed. RESULTS: SMF occurred in 59 eyes (35.5%) and was associated with macular detachment ( P ≤ 0.001) and phakic lens status ( P = 0.007). Submacular fluid resolved over an average of 9.39 months and was associated with worse preprocedure best-corrected visual acuity and delayed visual recovery. The mean final best-corrected visual acuity was 0.277 logarithm of the minimum angle of resolution (20/40) in eyes with SMF and 0.162 logarithm of the minimum angle of resolution (20/30) in those without SMF ( P < 0.001). Submacular fluid was associated with discontinuity of the interdigitation zone ( P = 0.003), ellipsoid zone ( P = 0.005), and external limiting membrane ( P ≤ 0.001) after SMF resolution. Ellipsoid zone discontinuity was associated with worse visual prognosis ( P = 0.009). CONCLUSION: Trace SMF detected by optical coherence tomography is common after successful pneumatic retinopexy and resulted in delayed visual recovery and increased rates of outer retinal discontinuity after SMF resorption, although the final difference in best-corrected visual acuity in those with and without SMF was minimal.
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Desprendimiento de Retina , Humanos , Desprendimiento de Retina/diagnóstico , Desprendimiento de Retina/cirugía , Curvatura de la Esclerótica/métodos , Agudeza Visual , Retina , Vitrectomía , Tomografía de Coherencia Óptica , Estudios RetrospectivosRESUMEN
PURPOSE: To report a case of Purtscher-like retinopathy in a patient with milk-alkali syndrome and pancreatitis. METHODS: Case report and review of the literature. RESULTS: A 46-year-old woman presented with decreased vision following discharge from the intensive care unit, where she had been admitted for milk-alkali syndrome secondary to long-term calcium supplementation and over-the-counter antacid use, and pancreatitis. Dilated examination showed ischemic retinal whitening and retinal hemorrhages in the posterior pole bilaterally consistent with Purtscher-like retinopathy. Over three months, the retinopathy resolved and her vision improved. CONCLUSION: Milk-alkali syndrome is the clinical triad of hypercalcemia, renal failure, and metabolic alkalosis and occurs secondary to the consumption of large amounts of calcium and alkali. The hypercalcemia associated with milk-alkali syndrome may cause pancreatitis, which can lead to Purtscher-like retinopathy.
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Hipercalcemia , Pancreatitis , Enfermedades de la Retina , Femenino , Humanos , Persona de Mediana Edad , Hipercalcemia/complicaciones , Hipercalcemia/diagnóstico , Calcio , Enfermedades de la Retina/diagnóstico , Pancreatitis/complicaciones , Hemorragia Retiniana/etiologíaRESUMEN
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.
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Lesiones Oculares , Fútbol , Lesiones Oculares/diagnóstico por imagen , Lesiones Oculares/etiología , Angiografía con Fluoresceína/métodos , Humanos , Imagen Multimodal/métodos , Estudios Retrospectivos , Tomografía de Coherencia Óptica/métodos , Agudeza VisualRESUMEN
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.
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Lesiones Oculares , Heridas no Penetrantes , Humanos , Lesiones Oculares/diagnóstico , Lesiones Oculares/complicaciones , Agudeza Visual , Hemorragia Vítrea/cirugía , Heridas no Penetrantes/complicaciones , Heridas no Penetrantes/diagnóstico , Heridas no Penetrantes/terapia , Estudios RetrospectivosRESUMEN
PURPOSE: To report a case of pattern dystrophy in a patient with McArdle disease, a rare autosomal recessive disorder of glycogen metabolism. METHODS: Case report. RESULTS: A 29-year-old woman with a history of muscle biopsy-confirmed McArdle disease presented with fundus findings consistent with pattern dystrophy. Multimodal imaging, including optical coherence tomography and fundus autofluorescence, was performed. CONCLUSION: To our knowledge, this is the third reported case of pattern dystrophy in a patient with McArdle disease.
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Enfermedad del Almacenamiento de Glucógeno Tipo V/complicaciones , Distrofias Retinianas/etiología , Adulto , Femenino , Enfermedad del Almacenamiento de Glucógeno Tipo V/diagnóstico , Humanos , Imagen Multimodal , Oftalmoscopía , Imagen Óptica , Distrofias Retinianas/diagnóstico por imagen , Microscopía con Lámpara de Hendidura , Tomografía de Coherencia Óptica , Agudeza VisualRESUMEN
PURPOSE: Paracentral acute middle maculopathy (PAMM) is a recently identified clinical entity with numerous retinal vascular and systemic associations. To our knowledge, this is the first reported case of PAMM associated with idiopathic intracranial hypertension. METHODS: A case is presented with multimodal imaging. RESULTS: A patient with idiopathic intracranial hypertension is found to have the characteristic clinical, spectral domain optical coherence tomography, and OCT angiography findings associated with PAMM. CONCLUSION: Paracentral acute middle maculopathy is believed to arise from a microvascular insult to the retinal deep capillary plexus. We add a previously undescribed association with idiopathic intracranial hypertension to the list of etiologies that can cause PAMM.
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Degeneración Macular , Seudotumor Cerebral , Enfermedades de la Retina , Humanos , Degeneración Macular/diagnóstico por imagen , Degeneración Macular/etiología , Seudotumor Cerebral/complicaciones , Enfermedades de la Retina/diagnóstico por imagen , Enfermedades de la Retina/etiología , Tomografía de Coherencia ÓpticaRESUMEN
PURPOSE: To describe a patient with newly developed paracentral acute middle maculopathy after uncomplicated epiretinal membrane removal. METHODS: Retrospective chart review. RESULTS: A 74-year-old white man underwent uncomplicated vitrectomy and epiretinal membrane removal in his left eye. One week later, the patient complained of a small paracentral visual field deficit and decreased visual acuity. Spectral domain optical coherence tomography revealed a characteristic hyperreflective band-like lesion at the level of the inner nuclear layer, consistent with paracentral acute middle maculopathy. The patient was closely followed and endorsed subjective improvement of his paracentral visual deficit at 3 months postoperatively. CONCLUSION: Paracentral acute middle maculopathy, although rare, may be encountered after epiretinal membrane removal.
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Membrana Epirretinal , Degeneración Macular , Enfermedades de la Retina , Anciano , Membrana Epirretinal/cirugía , Humanos , Degeneración Macular/diagnóstico por imagen , Degeneración Macular/etiología , Masculino , Enfermedades de la Retina/diagnóstico por imagen , Enfermedades de la Retina/etiología , Estudios Retrospectivos , Tomografía de Coherencia ÓpticaRESUMEN
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.
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PURPOSE: To report on a case of submacular choroiditis in a patient with common variable immunodeficiency (CVID). OBSERVATIONS: An 80-year-old man was referred with a diagnosis of a central retinal vein occlusion with CME and later developed intraocular inflammation. History was notable for recurrent bacterial infections and myelodysplastic syndrome known to be due to CVID. Ophthalmic examination and multimodal imaging revealed mild intraocular inflammation, retinal vasculitis, submacular choroiditis, and CME. Genetic testing identified a point mutation in TNFRSF13B, a pathogenic variant in the tumor necrosis factor gene known to be associated with CVID, but not with CVID-associated uveitis. CONCLUSIONS AND IMPORTANCE: The diagnosis of CVID should be considered in patients with uveitis and a history of recurrent bacterial infections. Genetic testing can support the diagnosis.
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Although many bacterial cell division factors have been uncovered over the years, evidence from recent studies points to the existence of yet-to-be-discovered factors involved in cell division regulation. Thus, it is important to identify factors and conditions that regulate cell division to obtain a better understanding of this fundamental biological process. We recently reported that in the Gram-positive organisms Bacillus subtilis and Staphylococcus aureus, increased production of YpsA resulted in cell division inhibition. In this study, we isolated spontaneous suppressor mutations to uncover critical residues of YpsA and the pathways through which YpsA may exert its function. Using this technique, we were able to isolate four unique intragenic suppressor mutations in ypsA (E55D, P79L, R111P, and G132E) that rendered the mutated YpsA nontoxic upon overproduction. We also isolated an extragenic suppressor mutation in yfhS, a gene that encodes a protein of unknown function. Subsequent analysis confirmed that cells lacking yfhS were unable to undergo filamentation in response to YpsA overproduction. We also serendipitously discovered that YfhS may play a role in cell size regulation. Finally, we provide evidence showing a mechanistic link between YpsA and YfhS.IMPORTANCEBacillus subtilis is a rod-shaped Gram-positive model organism. The factors fundamental to the maintenance of cell shape and cell division are of major interest. We show that increased expression of ypsA results in cell division inhibition and impairment of colony formation on solid medium. Colonies that do arise possess compensatory suppressor mutations. We have isolated multiple intragenic (within ypsA) mutants and an extragenic suppressor mutant. Further analysis of the extragenic suppressor mutation led to a protein of unknown function, YfhS, which appears to play a role in regulating cell size. In addition to confirming that the cell division phenotype associated with YpsA is disrupted in a yfhS-null strain, we also discovered that the cell size phenotype of the yfhS knockout mutant is abolished in a strain that also lacks ypsA This highlights a potential mechanistic link between these two proteins; however, the underlying molecular mechanism remains to be elucidated.
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Bacillus subtilis/genética , Proteínas Bacterianas/genética , División Celular/genética , Mutación , Fenotipo , Proteínas Bacterianas/química , Infecciones Estafilocócicas/microbiologíaRESUMEN
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.
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Carcinoma de Pulmón de Células no Pequeñas/tratamiento farmacológico , Neoplasias Pulmonares/tratamiento farmacológico , Nivolumab/efectos adversos , Enfermedades de la Retina/inducido químicamente , Carcinoma de Pulmón de Células no Pequeñas/diagnóstico , Carcinoma de Pulmón de Células no Pequeñas/secundario , Electrorretinografía , Femenino , Angiografía con Fluoresceína/métodos , Fondo de Ojo , Humanos , Inhibidores de Puntos de Control Inmunológico/efectos adversos , Inhibidores de Puntos de Control Inmunológico/uso terapéutico , Neoplasias Pulmonares/diagnóstico , Persona de Mediana Edad , Nivolumab/uso terapéutico , Enfermedades de la Retina/diagnóstico , Enfermedades de la Retina/inmunología , Tomografía de Coherencia ÓpticaRESUMEN
BACKGROUND: Autosomal recessive bestrophinopathy is part of the diverse spectrum of retinal diseases caused by mutations in the BEST1 gene. METHODS: A case report. RESULTS: We present a case that highlights the classic retinal findings of autosomal recessive bestrophinopathy with an emphasis on modern multimodal imaging. CONCLUSION: We describe modern multimodal imaging in an individual with a BEST1 gene mutation and clinical findings consistent with an autosomal recessive bestrophinopathy.
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Enfermedades Hereditarias del Ojo/diagnóstico por imagen , Imagen Multimodal , Enfermedades de la Retina/diagnóstico por imagen , Adulto , Técnicas de Diagnóstico Oftalmológico , Femenino , Humanos , Mácula Lútea/diagnóstico por imagen , Epitelio Pigmentado de la Retina/diagnóstico por imagenRESUMEN
PURPOSE: To describe a technique of combined scleral buckle with external needle drainage and vitrectomy in the treatment of bullous exudative retinal detachment, schisis detachment, or bullous retinoschisis threatening the fovea. METHODS: A retrospective chart review of four eyes of four patients who underwent the procedure described. RESULTS: Four eyes of four patients who underwent combined scleral buckling with external needle drainage and vitrectomy by a single surgeon for a bullous exudative retinal detachment, schisis detachment, or bullous retinoschisis threatening the fovea were included in this series. All four patients were attached after a single surgical intervention. No patient developed complications from the external drainage. CONCLUSION: External needle drainage of bullous subretinal or intraschisis fluid in combination with vitrectomy is a successful technique for treating bullous exudative retinal detachments, schisis detachment, or foveal-threatening retinoschisis. The technique avoids many complications associated with conventional drainage procedures. Long-term results seem promising because of extended follow-up demonstrating sustained anatomical success with a single intervention.
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Drenaje/instrumentación , Fóvea Central/patología , Agujas , Desprendimiento de Retina/cirugía , Curvatura de la Esclerótica/métodos , Agudeza Visual , Vitrectomía/métodos , Adolescente , Anciano , Femenino , Estudios de Seguimiento , Humanos , Masculino , Persona de Mediana Edad , Desprendimiento de Retina/diagnóstico , Desprendimiento de Retina/fisiopatología , Estudios Retrospectivos , UltrasonografíaRESUMEN
PURPOSE: To describe a patient with confirmed transthyretin V30M form of familial amyloidosis who presented initially with isolated retinal angiopathy. METHODS: Retrospective chart review. RESULTS: A 66-year-old woman presented with bilateral retinal angiopathy. Extensive workup for an infectious, inflammatory, or hypercoagulable cause was unrevealing. The patient subsequently developed bilateral neovascularization of the optic nerve and iris complicated by recurrent vitreous hemorrhages, which were treated with intravitreal bevacizumab and panretinal photocoagulation. The development of cardiac and gastrointestinal symptoms 5 years after presentation led to tissue biopsies that revealed both Congo red staining and apple-green birefringence in polarized light, confirming the diagnosis of systemic amyloidosis. Sequencing of the transthyretin gene confirmed the patient to be heterozygous for the common amyloidogenic V30M mutation. CONCLUSION: The common transthyretin V30M form of familial amyloidotic polyneuropathy can rarely present with retinal angiopathy. Recurrent vitreous hemorrhages were treated successfully with intravitreal bevacizumab and panretinal photocoagulation.
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Amiloidosis Familiar/complicaciones , Prealbúmina/genética , Enfermedades de la Retina/etiología , Anciano , Amiloidosis Familiar/genética , Femenino , Humanos , Estudios Retrospectivos , Hemorragia Vítrea/etiologíaRESUMEN
Nevoid basal cell carcinoma syndrome (NBCCS) is a rare, autosomal dominant disorder characterized by multiple basal cell carcinomas (BCCs), odontogenic keratocysts, palmar and/or plantar pits, and ectopic calcifications of the falx cerebri. Myriad ophthalmologic findings are associated with NBCCS, including periocular BCCs, hypertelorism, strabismus, myelinated nerve fibers, and disorders of the retina and retinal pigment epithelium. We performed a literature search in PubMed for articles on the ophthalmologic manifestations of Gorlin syndrome, published between 1984 and 2014. Of 33 papers, 31 were included. Although Gorlin syndrome is due to mutations in a single gene, it displays variable phenotypic expressivity. Therefore, familiarity with this disorder across clinical specialties is necessary to avoid misdiagnosis. The ophthalmologist should be included in the multidisciplinary team for the management of Gorlin syndrome in order to prevent visual loss and improve the quality of life of these patients.
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Síndrome del Nevo Basocelular/diagnóstico , Neoplasias de los Párpados/diagnóstico , Adulto , Biopsia , Humanos , Masculino , Calidad de Vida , Tomografía Computarizada por Rayos XRESUMEN
PURPOSE: Genome-wide association studies have suggested an association between a previously uncharacterized gene, FAM18B, and diabetic retinopathy. This study explores the role of FAM18B in diabetic retinopathy. An improved understanding of FAM18B could yield important insights into the pathogenesis of this sight-threatening complication of diabetes mellitus. METHODS: Postmortem human eyes were examined with immunohistochemistry and immunofluorescence for the presence of FAM18B. Expression of FAM18B in primary human retinal microvascular endothelial cells (HRMECs) exposed to hyperglycemia, vascular endothelial growth factor (VEGF), or advanced glycation end products (AGEs) was determined with quantitative reverse-transcription PCR (qRT-PCR) and/or western blot. The role of FAM18B in regulating human retinal microvascular endothelial cell viability, migration, and endothelial tube formation was determined following RNAi-mediated knockdown of FAM18B. The presence of FAM18B was determined with qRT-PCR in CD34+/VEGFR2+ mononuclear cells isolated from a cohort of 17 diabetic subjects with and without diabetic retinopathy. RESULTS: Immunohistochemistry and immunofluorescence demonstrated the presence of FAM18B in the human retina with prominent vascular staining. Hyperglycemia, VEGF, and AGEs downregulated the expression of FAM18B in HRMECs. RNAi-mediated knockdown of FAM18B in HRMECs contributed to enhanced migration and tube formation as well as exacerbating the hyperglycemia-induced decrease in HRMEC viability. The enhanced migration, tube formation, and decrease in the viability of HRMECs as a result of FAM18B downregulation was reversed with pyrrolidine dithiocarbamate (PDTC), a specific nuclear factor-kappa B (NF-κB) inhibitor. CD34+/VEGFR2+ mononuclear cells from subjects with proliferative diabetic retinopathy demonstrated significantly reduced mRNA expression of FAM18B compared to diabetic subjects without retinopathy. CONCLUSIONS: FAM18B is expressed in the retina. Diabetic culture conditions decrease the expression of FAM18B in HRMECs. The downregulation of FAM18B by siRNA in HRMECs results in enhanced migration and tube formation, but also exacerbates the hyperglycemia-induced decrease in HRMEC viability. The pathogenic changes observed in HRMECs as a result of FAM18B downregulation were reversed with PDTC, a specific NF-κB inhibitor. This study is the first to demonstrate a potential role for FAM18B in the pathogenesis of diabetic retinopathy.