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Proteínas de Transporte/genética , Distrofias de Cones e Bastonetes/genética , Proteínas Mitocondriais/genética , Mutação , Atrofia Óptica/genética , Células Ganglionares da Retina/patologia , Segmento Externo da Célula Bastonete/patologia , Adulto , Proteínas de Transporte/metabolismo , Distrofias de Cones e Bastonetes/diagnóstico , Distrofias de Cones e Bastonetes/metabolismo , Feminino , Seguimentos , Humanos , Proteínas Mitocondriais/metabolismo , Atrofia Óptica/diagnóstico , Atrofia Óptica/metabolismo , Fenótipo , Fatores de Tempo , Tomografia de Coerência Óptica/métodos , Campos Visuais/fisiologiaRESUMO
PURPOSE: To report a case of fungal endogenous endophthalmitis from Cladosporium sphaerospermum in a patient with juvenile idiopathic arthritis receiving chronic immunosuppressive therapy with golimumab (tumor necrosis factor-α blocker). METHODS: Case report and review of the literature. RESULTS: A 34-year-old woman receiving chronic immunosuppressive therapy with golimumab for juvenile idiopathic arthritis was referred for unilateral visual loss and ocular pain. Worsening conditions after corticosteroid therapy and raised serum beta-D-glucan levels pointed to an infectious fungal etiology. Panfungal polymerase chain reaction-based genetic sequencing on vitreous specimens obtained during vitrectomy detected C. sphaerospermum. The patient management combined surgical treatment and systemic and intravitreal voriconazole. CONCLUSION: Endogenous fungal endophthalmitis can be a rare complication in patients undergoing chronic immunosuppressive therapy (including golimumab) without other predisposing factors. Prompt diagnosis and appropriate treatment are the keys to preserve vision.
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Artrite Juvenil , Endoftalmite , Infecções Oculares Fúngicas , Feminino , Humanos , Adulto , Anticorpos Monoclonais , Endoftalmite/diagnóstico , Endoftalmite/etiologia , Infecções Oculares Fúngicas/diagnósticoRESUMO
INTRODUCTION: This study investigates factors associated with recurrent rhegmatogenous retinal detachment (RRD), macular complications, and visual outcomes after pars plana vitrectomy (PPV) without perfluorocarbon liquids (PFCLs) for primary RRD. METHODS: A longitudinal cohort study included consecutive patients with RRD who underwent PFCL-free PPV. Postoperative visual acuity and spectral-domain optical coherence tomography findings [cystoid macular edema (CME), epiretinal membrane (ERM), ellipsoid zone/interdigitation zone (EZ/IZ) damage] were collected. Logistic regression and linear mixed models analyzed rates and risk factors for RRD recurrence, CME, ERM, EZ/IZ damage, and visual acuity at 12 months. RESULTS: 346 eyes with RRD were studied. Single-operation success rates were 96% and 93% for uncomplicated (n = 274 eyes) and complicated (n = 72 eyes) RRD, respectively. Factors associated with RRD recurrence were posterior retinal breaks [odds ratio (OR) = 10.7 compared to peripheral retinal breaks, p = 0.008], silicone oil tamponade (OR = 5.66 compared to gas, p = 0.01), and sectorial laser retinopexy (OR = 4.34 compared to 360° laser retinopexy, p = 0.007). The prevalence of CME, ERM, and EZ/IZ damage at 12 months was 10%, 9%, and 6%, respectively. Eyes with EZ/IZ defects had worse postoperative visual acuity in both uncomplicated and complicated RRD. Proliferative vitreoretinopathy (OR = 2.95, p = 0.03) and silicone oil tamponade (OR = 3.70 compared to gas, p = 0.05) were associated with EZ/IZ damage. CONCLUSIONS: PFCL-free PPV demonstrated satisfactory single-operation success rates for uncomplicated and complicated RRD, with a low prevalence of macular complications. Analyzing factors associated with RRD recurrence can provide provisional recommendations for PFCL-free approaches in the absence of randomized trials.
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BACKGROUND: Schubert-Bornschein (SB) is the most common type of people with congenital stationary night blindness (CSNB). The aim of the study is to describe the optical coherence tomography (OCT) and optical coherence tomography angiography (OCTA) findings in patients with SB CSNB. METHODS: Prospective, observational case series including three patients with genetically confirmed CSNB along with matched controls, who underwent complete ophthalmic examination and multimodal imaging. RESULTS: On SD-OCT, a significant focal outer plexiform layer (OPL) thickening and a corresponding focal outer nuclear layer (ONL) thinning were identified in the macular area (p < 0.001). OCTA analysis overall showed decreased density of macular deep capillary plexus (mDCP) and macular choriocapillaris (mCC) (p = 0.008 and p = 0.033, respectively). DCP vessel density in the area corresponding to OPL thickening was significantly increased compared to the remaining retina (p < 0.001). CONCLUSION: SB CSNB is characterized by retinal vascular impairment, as detected on OCTA.
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Cegueira Noturna , Humanos , Angiofluoresceinografia , Imagem Multimodal , Cegueira Noturna/diagnóstico , Cegueira Noturna/genética , Estudos Prospectivos , Retina/diagnóstico por imagem , Vasos Retinianos , Tomografia de Coerência ÓpticaRESUMO
PURPOSE: To investigate the clinical and molecular genetic features of childhood-onset Leber hereditary optic neuropathy (LHON) to gain a better understanding of the factors influencing the visual outcome in this atypical form of the disease. DESIGN: Retrospective cohort study. METHODS: We retrospectively included 2 cohorts of patients with LHON with onset of visual loss before the age of 12 years from Italy and the United Kingdom. Ophthalmologic evaluation, including best-corrected visual acuity, orthoptic evaluation, slit-lamp biomicroscopy, visual field testing, and optical coherence tomography, was considered. Patients were classified based on both the age of onset and the pattern of visual loss. RESULTS: A total of 68 patients were stratified based on the age of onset of visual loss: group 1 (<3 years): 14 patients (20.6%); group 2 (≥3 to <9 years): 27 patients (39.7%); and group 3 (≥9 to ≤12 years): 27 patients (39.7%). Patients in group 2 achieved a better visual outcome than those in group 3. Patients in groups 1 and 2 had better mean deviation on visual field testing than those in group 3. The mean ganglion cell layer thickness on optical coherence tomography in group 2 was higher than those in groups 1 and 3. Patients were also categorized based on the pattern of visual loss as follows: Subacute Bilateral: 54 patients (66.7%); Insidious Bilateral: 14 patients (17.3%); Unilateral: 9 patients (11.1%); and Subclinical Bilateral: 4 patients (4.9%). CONCLUSIONS: Children who lose vision from LHON before the age of 9 years have a better visual prognosis than those who become affected in later years, likely representing a "form frustre" of the disease.
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Atrofia Óptica Hereditária de Leber , Criança , Humanos , Pré-Escolar , Atrofia Óptica Hereditária de Leber/diagnóstico , Atrofia Óptica Hereditária de Leber/epidemiologia , Atrofia Óptica Hereditária de Leber/genética , Prognóstico , Estudos Retrospectivos , Testes de Campo Visual , Transtornos da Visão/genética , Cegueira , Tomografia de Coerência Óptica/métodosRESUMO
INTRODUCTION: This study reports the outcomes of fluocinolone acetonide intravitreal implant (FAc, Iluvien®, SIFI, Italy) in patients affected by macular edema secondary to chronic non-infectious uveitis of the posterior segment (NIU-PS). METHODS: This was a retrospective study of patients with NIU-PS and macular thickening undergoing FAc implant at San Raffaele Hospital (Milan, Italy). Clinical data, including best-corrected visual acuity (BCVA), intraocular pressure (IOP), and central macular thickness (CMT), were collected at the time of FAc administration (baseline) and at 1, 6, and 12 months. The area under the curve (AUC) of the BCVA (AUCBCVA) and CMT (AUCCMT) was correlated with baseline factors; ß estimates and 95% confidence interval (CI) are provided. RESULTS: Ten eyes of seven patients (60 ± 12 years; 4 male, 57%) were included. The BCVA significantly improved from month 6 (p = 0.03). The CMT improved from month 1 and was persistently lower than baseline until month 12 (p < 0.001). The AUCBCVA correlated with baseline BCVA (ß = 2.5 logMAR; 95% CI 1.59-3.41; p < 0.001), while the mean AUCCMT positively correlated with the baseline CMT (ß = 2.1 µm; 95% CI 0.41-3.80; p = 0.02). No adverse events were recorded over 1 year. CONCLUSIONS: Better visual acuity at the time of FAc administration was associated with better visual function after FAc. Less severe macular edema correlated with better anatomic response. The FAc implant was a safe option for resolving macular edema secondary to NIU-PS.
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PURPOSE: To describe the clinical phenotype of a cohort of patients with Wolfram syndrome (WS), focusing on the pattern of optic atrophy correlated with brain magnetic resonance imaging (MRI) measurements, as compared with patients with OPA1-related dominant optic atrophy (DOA). DESIGN: Retrospective, comparative cohort study. METHODS: We reviewed 25 patients with WS and 33 age-matched patients affected by OPA1-related DOA. Ophthalmologic, neurologic, endocrinologic, and MRI data from patients with WS were retrospectively retrieved. Ophthalmologic data were compared with data from patients with OPA1-related DOA and further analyzed for age dependency dividing patients in age quartiles. In a subgroup of patients with WS, we correlated the structural damage assessed by optical coherence tomography (OCT) with brain MRI morphologic measurements. Visual acuity (VA), visual field mean defect (MD), retinal nerve fiber layer (RNFL), and ganglion cell layer (GCL) thickness were assessed by OCT and MRI morphologic measurements of anterior and posterior visual pathways. RESULTS: Optic atrophy was present in 100% of patients with WS. VA, MD, and RNFL thickness loss were worse in patients with WS with a faster decline since early age as compared with patients with DOA, who displayed a more stable visual function over the years. Conversely, GCL sectors were overall thinner in patients with DOA since early age compared to patients with WS, in which GCL thickness started to decline later in life. The neuroradiologic subanalysis on 11 patients with WS exhibited bilateral thinning of the anterior optic pathway, especially the prechiasmatic optic nerves and optic tracts. Optic tract thinning was significantly correlated with GCL thickness but not with RNFL parameters. CONCLUSIONS: Our results showed a generally more severe and diffuse degeneration of both anterior and posterior visual pathways in patients with WS, with fast deterioration of visual function and structural OCT parameters since early age. The pattern observed with OCT suggests that retinal ganglion cell axonal degeneration (ie, RNFL) precedes cellular body atrophy (ie, GCL) by about a decade. This differs substantially from DOA, in which a more stable visual function is evident with predominant early loss of GCL, indirectly supporting the lack of a primary mitochondrial dysfunction in patients with WS.
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Atrofia Óptica Autossômica Dominante , Doenças do Nervo Óptico , Síndrome de Wolfram , Estudos de Coortes , Humanos , Mitocôndrias/patologia , Atrofia Óptica Autossômica Dominante/diagnóstico , Atrofia Óptica Autossômica Dominante/genética , Atrofia Óptica Autossômica Dominante/patologia , Doenças do Nervo Óptico/patologia , Células Ganglionares da Retina/patologia , Estudos Retrospectivos , Tomografia de Coerência Óptica/métodos , Transtornos da Visão , Síndrome de Wolfram/diagnósticoRESUMO
The pathogenesis of diabetic macular edema (DME) is complex. Persistently high blood glucose activates multiple cellular pathways and induces inflammation, oxidation stress, and vascular dysfunction. Retinal ganglion cells, macroglial and microglial cells, endothelial cells, pericytes, and retinal pigment epithelium cells are involved. Neurodegeneration, characterized by dysfunction or apoptotic loss of retinal neurons, occurs early and independently from the vascular alterations. Despite the increasing knowledge on the pathways involved in DME, only limited therapeutic strategies are available. Besides antiangiogenic drugs and intravitreal corticosteroids, alternative therapeutic options tackling inflammation, oxidative stress, and neurodegeneration have been considered, but none of them has been currently approved.
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The authors present the case of a 73-year-old woman affected by geographic atrophy (GA) in her left eye. During her follow-up, she developed a subretinal hyporeflective space visible on optical coherence tomography (OCT) images. This peculiar OCT sign was recognized to represent a wedge-shaped subretinal hyporeflectivity (WSSH). In contrast to previous reports showing that WSSH develops during the flattening of drusenoid pigment epithelium detachment (PED), the authors found that the WSSH manifestation may be even consecutive to the regression of a large PED and consequent GA appearance. Therefore, the origin of this peculiar OCT finding could be more complex and variegated. [Ophthalmic Surg Lasers Imaging Retina. 2020;51:116-118.].
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Atrofia Geográfica/diagnóstico , Retina/patologia , Idoso , Feminino , Seguimentos , Humanos , Retina/diagnóstico por imagem , Drusas Retinianas/diagnóstico , Epitélio Pigmentado da Retina/patologia , Tomografia de Coerência Óptica , Acuidade VisualRESUMO
PURPOSES: To describe the prevalence of ocular features among COVID-19 patients and their relationship with clinical data, inflammatory markers and respiratory support therapy (including CPAP); to investigate SARS-CoV-2 in ocular secretions of symptomatic patients. METHODS: 172 COVID-19 patients were evaluated for presence of ocular manifestations. Clinical and laboratory data were also reviewed. Conjunctival swabs were analyzed for SARS-CoV-2 by RT-PCR. RESULTS: Forty-five patients (26.2%) reported ocular manifestations. Patients treated with CPAP were more likely to have ocular abnormalities (p <.01). The presence of ocular symptoms was not associated with more significant alterations on blood tests. Conjunctival swabs from patients with suspect conjunctivitis yielded negative results for SARS-CoV-2. CONCLUSIONS: Ocular features are not infrequent in COVID-19 patients, but the presence of SARS-CoV-2 in ocular secretions is low. Ocular manifestations in hospitalized COVID-19 patients can also be a consequence of respiratory support therapy. Prevention of possible transmission through ocular secretions is still recommended.
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Betacoronavirus/genética , Túnica Conjuntiva/virologia , Conjuntivite Viral/etiologia , Infecções por Coronavirus/complicações , Pandemias , Pneumonia Viral/complicações , RNA Viral/análise , COVID-19 , Conjuntivite Viral/diagnóstico , Conjuntivite Viral/virologia , Infecções por Coronavirus/epidemiologia , Estudos Transversais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Pneumonia Viral/epidemiologia , SARS-CoV-2RESUMO
Stargardt disease (STGD1) represents one of the major common causes of inherited irreversible visual loss. Due to its high phenotypic and genotypic heterogeneity, STGD1 is a complex disease to understand. Non-invasive imaging, biochemical, and genetic advances have led to substantial improvements in unveiling the disease processes and novel promising therapeutic landscapes have been proposed. This review recapitulates the modalities for monitoring patients with STGD1 and the therapeutic options currently under investigation for the different stages of the disease.