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PURPOSE: To investigate the macular and circumpapillary retinal microvasculature across all stages of Leber hereditary optic neuropathy (LHON) using swept source optical coherence tomography angiography (OCTA). METHODS: This prospective, multicentre, cross-sectional, observational study analysed a total of 119 eyes of 60 patients with molecularly confirmed LHON across all stages and 120 eyes of 60 control subjects. Optical coherence tomography angiography maps centred on the fovea and optic disc were obtained to measure vessel densities (VDs) in the macular superficial (SCP) and deep (DCP) capillary plexuses, and the radial peripapillary capillary plexus (RPCP) respectively. RESULTS: In asymptomatic eyes, only the SCP showed significant changes on average (B coefficient = -0.72, 95% CI = -1.34 to -0.10, p = 0.022) or in sectors representing the papillomacular bundle (PMB) (B coefficient = -1.17, 95% CI = -2.23 to -0.11, p = 0.031). However, in chronic eyes, the greatest magnitude of change was found in the temporal sector of the RPCP (B coefficient = -12.36, 95% CI = -14.49 to -10.23, p < 0.001). The RPCP showed the strongest correlations with visual acuity (VA, logarithm of the minimum angle of resolution; R = -0.677, p < 0.001) and structural parameters (R = 0.747, p < 0.001). CONCLUSIONS: Retinal VD changes in the circumpapillary region of the PMB appear later than in the macula but end up being more profound and correlate better with VA and structural parameters. Further studies are needed to assess the clinical utility of retinal VDs as potential LHON biomarkers.
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Atrofia Óptica Hereditária de Leber , Disco Óptico , Humanos , Tomografia de Coerência Óptica/métodos , Angiofluoresceinografia/métodos , Atrofia Óptica Hereditária de Leber/diagnóstico , Estudos Transversais , Estudos Prospectivos , Vasos Retinianos , Disco Óptico/irrigação sanguíneaRESUMO
ABSTRACT: Inner nuclear layer (INL) microcysts have been reported in diseases affecting the optic nerve. The new ocular imaging techniques detect minimal structural alterations at the macula and correlate these findings to different etiologies with less invasive procedures. The relationship between ganglion cells distribution at the macula and chiasmal nerve fibers enables the diagnosis and location of neurological lesions by new generation optical coherence tomography (SD-OCT) imaging devices. We report the evaluation of a patient with a history of optic nerve trauma and macular INL microcysts with multicolor SD-OCT technology that shows a pattern that localizes the lesion to the left optic nerve and proximal segment of the chiasm.
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Cistos/diagnóstico por imagem , Macula Lutea/diagnóstico por imagem , Doenças do Nervo Óptico/diagnóstico por imagem , Retina/diagnóstico por imagem , Adulto , Cistos/etiologia , Humanos , Masculino , Doenças do Nervo Óptico/complicações , Tomografia de Coerência ÓpticaRESUMO
PURPOSE: To review and analyze the epidemiological profile, clinical characteristics and visual outcomes in patients attended for traumatic open globe injury (OGI) at our hospital over a 5-year period. DESIGN: Retrospective chart review study. METHODS: Retrospective analysis of all patients attended at Fundación Jiménez Díaz University Hospital for OGI between 2011 and 2015. Data from 104 patients including demographics, ocular examination, medical and surgical treatment, visual outcomes, and complications were analyzed. RESULTS: Most patients were male (79.8%) and the median age at the time of injury was 41 years (interquartile range 31.5-58 years). Work-related accidents represent more than half of the cases and their main mechanism was penetrating trauma or foreign body. This type of accident had good prognosis (median final visual acuity in decimal scale 0.8; interquartile range 0.4-1). Falls were the second most common cause of OGI, predominantly affecting senior women (50%), with a high incidence of ocular rupture (50%) and associating a poor visual prognosis (median final visual acuity 0.01; interquartile range 0-0.5). There was a strong correlation (0.75; p < 0.001) between ocular trauma score (OTS) and final best corrected visual acuity. CONCLUSIONS: Two different patterns of OGI were identified in our sample. Work-related trauma in young males was the most common form of OGI and was associated with good prognosis. However, falls in senior women were associated with poor prognosis.
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Ferimentos Oculares Penetrantes , Traumatismos Oculares , Adulto , Estudos de Coortes , Ferimentos Oculares Penetrantes/diagnóstico , Ferimentos Oculares Penetrantes/epidemiologia , Ferimentos Oculares Penetrantes/cirurgia , Feminino , Hospitais Universitários , Humanos , Masculino , Pessoa de Meia-Idade , Prognóstico , Estudos RetrospectivosRESUMO
High myopia and the subsequent degenerative changes of the retina, choroid, and sclera, known as myopic maculopathy (MM), are a serious visual problem in many Asian countries, and are beginning to be so in the south of Europe, especially in the Mediterranean. It is therefore necessary to carry out genetic and environmental studies to determine the possible causes of this disease. This study aims to verify if the genetic factors that have been most related to Asian populations are also associated in two Spanish cohorts. Eight SNPs from six genes (PAX6, SCO2, CCDC102B, BLID, chromosome 15q14, and COL8A1) along with demographic, ophthalmic and environmental factors were analysed in two cohorts from a total of 365 highly myopic subjects and 177 control subjects. The genetic analysis showed that COL8A1 SNP rs13095226 was associated with the development of choroidal neovascularization (CNV) and also seems to play an important role in the increase of axial length. The SNP rs634990 of chromosome 15q14 also showed a significant association with MM, although this was lost after the Bonferroni correction. Additional demographic and environmental factors, namely age, sex, smoking status, and pregnancy history, were also found to be associated with MM and CNV in this population.
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Meio Ambiente , Degeneração Macular/epidemiologia , Degeneração Macular/genética , Miopia/complicações , Adulto , Idoso , Alelos , Olho/metabolismo , Feminino , Genótipo , Humanos , Degeneração Macular/complicações , Masculino , Pessoa de Meia-Idade , Espanha/epidemiologiaRESUMO
PURPOSE: To evaluate the efficacy and safety of early pars plana vitrectomy (PPV) for the treatment of acute infective endophthalmitis, and identify prognostic factors for better visual outcome. DESIGN: Retrospective cohort study. METHODS: Consecutive patients who underwent early PPV within 72 hours of presentation for the treatment of acute infective bacterial endophthalmitis and presented to a large tertiary referral center in New South Wales, Australia, between January 2009 and December 2013 were included. Changes in best-corrected visual acuity (VA) from baseline to 1 year were examined. RESULTS: A total of 64 patients were included. The inciting events were cataract surgery (53%), intravitreal injection (36%), trabeculectomy (3%), and endogenous (3%). The mean VA improved from 3.1 logMAR (hand motion) at baseline to 1.02 (approximately 20/200) at 1 year, with 42% achieving final VA equal to or better than 0.477 logMAR (20/60) following early PPV. Positive prognostic factors were negative microbial cultures (P < 0.01) and etiology of post-cataract surgery (P < 0.01). In multivariable analyses adjusting for age and prognostic factors, patients with baseline VA of light perception and hand motion achieved greater visual gains than those with counting fingers, with gains of logMAR of -2.68, -2.09, and -0.85, respectively (P < 0.0001). CONCLUSIONS: Most patients who undergo early PPV experience substantial VA improvement. Negative microbial cultures and endophthalmitis after cataract surgery were associated with better final visual outcome. Patients with presenting VA of light perception or hand motion achieved higher visual gains than those with counting fingers, suggesting the possibility that early PPV may be beneficial in both groups.
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Endoftalmite/cirurgia , Infecções Oculares Bacterianas/cirurgia , Vitrectomia/métodos , Idoso , Idoso de 80 Anos ou mais , Endoftalmite/microbiologia , Infecções Oculares Bacterianas/microbiologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Análise Multivariada , Estudos Retrospectivos , Fatores de Risco , Acuidade VisualRESUMO
BACKGROUND: Macular holes in children are generally associated with trauma. CASE PRESENTATION: We report the first case of an idiopathic full thickness macular hole in a 10-year-old girl. 23-gauge transconjunctival pars plana vitrectomy, induction of a posterior vitreous detachment, ILM blue-assisted internal limiting membrane peel, fluid-air exchange and air-26% sulfur hexafluoride (SF6) exchange was performed with subsequent macular hole closure. CONCLUSION: This is the first reported case of an idiopathic full thickness macular hole in a child. Treatment with pars plana vitrectomy with peeling of the ILM resulted in significant anatomic and functional improvement.
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BACKGROUND: Retinitis pigmentosa (RP) is the most common form of inherited retinal dystrophy, with a worldwide prevalence of 1 in 4000 persons. While in most cases of RP, the disease is limited to the eye (non-syndromic), over 40 forms of syndromic RP have been described. OBJECTIVES: To identify the genetic basis for syndromic RP in three unrelated families from Israel and Spain. METHODS: Whole exome sequencing was conducted in one Israeli and two Spanish families segregating autosomal recessive RP with intellectual disability. Complete ophthalmic examination included best-corrected visual acuity, funduscopy, optical coherence tomography, fluorescein angiography, flash visual evoked potentials, and electroretinography. Reverse transcription (RT)-PCR and immunostaining were used to examine the spatial and temporal expression pattern of SCAPER. RESULTS: In all patients, biallelic SCAPER mutations were observed. Clinically, patients with SCAPER mutations show signs of typical RP. In addition, they have mild to moderate intellectual disability and attention-deficit/hyperactivity disorder. SCAPER was found to be ubiquitously expressed in a wide range of human tissues, including retina and brain. Furthermore, RT-PCR analysis revealed that in both mouse eye and brain, Scaper is expressed as early as embryonic day 14. In the mouse retina, SCAPER is located in multiple layers, including the retinal pigment epithelium, photoreceptor outer and inner segments, the inner plexiform layer and the ganglion cell layer. CONCLUSIONS: Deleterious SCAPER mutations were identified in four patients from three unrelated families of different ethnic backgrounds, thereby confirming the involvement of this gene in the aetiology of autosomal recessive syndromic RP.
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This report describes a case of unilateral pigmented paravenous retinochoroidal atrophy (PPRCA) in a patient with low-grade unilateral intermediate uveitis. A 31-year-old woman, previously diagnosed with intermediate uveitis in the right eye (OD) presented to the clinic. Best-corrected visual acuity was 20/20 OD. Fundus examination, fluorescein angiography, autofluorescence, and optical coherence tomography OD were in keeping with a phenotypic diagnosis of PPRCA. Electrophysiology showed severe photoreceptor dysfunction of both the rod and the cone systems OD. Systemic workup revealed QuantiFERON-gold positive. This is the first report of unilateral PPRCA secondary to presumed ocular tuberculosis. [Ophthalmic Surg Lasers Imaging Retina. 2017;48:345-349.].
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Hiperpigmentação/etiologia , Degeneração Retiniana/etiologia , Tuberculose Ocular/complicações , Acuidade Visual , Corioide/patologia , Eletrorretinografia , Feminino , Angiofluoresceinografia , Fundo de Olho , Humanos , Hiperpigmentação/diagnóstico , Epitélio Pigmentado Ocular/patologia , Epitélio Pigmentado Ocular/fisiopatologia , Degeneração Retiniana/diagnóstico , Tomografia de Coerência Óptica , Tuberculose Ocular/diagnóstico , Campos VisuaisRESUMO
BACKGROUND: The uveitis masquerade syndromes (UMS) are a group of ocular diseases that may mimic chronic intraocular inflammation. Many malignant entities such as non-Hodgkin's lymphomas may masquerade as uveitis. We report a case of an HIV-positive patient with masquerade syndrome presenting unilateral uveitis. CASE REPORT: 45-year-old Caucasian man with a diagnosis of diffuse large B-cell lymphoma (DLBCL). The patient was diagnosed by a biopsy of an abdominal mass which showed fragments of gastric mucosa with diffuse growth of neoplastic cells. At diagnosis, the patient suffered from unilateral blurring of vision and a sudden decrease of left-eye visual acuity. A slit-lamp examination of the left eye revealed a diagnosis of anterior uveitis. The patient exhibited no signs of posterior uveitis. An anterior-chamber paracentesis was performed and analyzed by multiparameter flow cytometry (MFC), showing cells CD45, CD19, CD20, CD22, and CD38 positives, and moderate expression of CD10 with kappa light chain restriction, showing a monoclonal B-cell population. The patient received CHOP-R with intrathecal methotrexate followed by consolidation high dose methotrexate obtaining a complete response which is ongoing. CONCLUSION: Differential diagnosis between chronic uveitis and ocular lymphoma may be challenging. We advocate anterior-chamber paracentesis in cases of refractory uveitis in patients with hematologic malignancies. © 2016 International Clinical Cytometry Society.
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Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Doxorrubicina/análogos & derivados , Linfoma Difuso de Grandes Células B/diagnóstico , Linfoma Difuso de Grandes Células B/tratamento farmacológico , Metotrexato/uso terapêutico , Uveíte/diagnóstico , Antígenos CD/genética , Antígenos CD/imunologia , Humor Aquoso/efeitos dos fármacos , Humor Aquoso/imunologia , Linfócitos B/efeitos dos fármacos , Linfócitos B/imunologia , Linfócitos B/patologia , Biomarcadores/metabolismo , Ciclofosfamida/uso terapêutico , Diagnóstico Diferencial , Doxorrubicina/uso terapêutico , Citometria de Fluxo/métodos , Expressão Gênica , Humanos , Inflamação , Linfoma Difuso de Grandes Células B/imunologia , Linfoma Difuso de Grandes Células B/patologia , Masculino , Pessoa de Meia-Idade , Paracentese , Prednisona/uso terapêutico , Resultado do Tratamento , Úvea/efeitos dos fármacos , Úvea/imunologia , Úvea/patologia , Uveíte/tratamento farmacológico , Uveíte/imunologia , Uveíte/patologia , Vincristina/uso terapêuticoRESUMO
The authors report imaging findings in a case of macular serpiginous choroidopathy (MSC). Near-infrared reflectance (NIR), fundus autofluorescence (FAF), and spectral-domain optical coherence tomography (SD-OCT) were performed on a 25-year-old man presenting with decreased visual acuity and a blind spot in his left eye. Fundus examination revealed a yellow subretinal infiltrate inferior to the macula with active edges. On SD-OCT, areas of disease activity presented as a diffuse hyperreflective signal in the outer nuclear layer (ONL). Inactive lesions presented as localized thinning of the ONL. NIR allowed clear visualization of a hyperreflective junctional line between the active and inactive areas that subsequently became disrupted. FAF revealed a diffuse hypoautofluorescent halo surrounding an area of hyperautofluorescence in the acute phase and later better-defined lesions and hypoautofluorescent lesion edges.
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Doenças da Coroide/diagnóstico , Macula Lutea/patologia , Imagem Multimodal , Doença Aguda , Adulto , Corantes , Angiofluoresceinografia , Humanos , Verde de Indocianina , Raios Infravermelhos , Masculino , Tomografia de Coerência Óptica , Acuidade Visual/fisiologiaRESUMO
BACKGROUND: We assessed the impact of a dietary supplement based on the combination of omega-3 essential fatty acids and antioxidants on health-related quality of life in patients with meibomian gland dysfunction (MGD). METHODS: Patients of either sex (aged 18-85 years) diagnosed with MGD according to criteria identified at a 2011 International Workshop on Meibomian Gland Dysfunction participated in this randomized, double-masked, placebo-controlled study. Group A patients (controls) received an oral placebo supplement and group B patients received the oral study supplement (Brudysec(®) 1.5 g; Brudy Laboratories, Barcelona, Spain). At baseline and at 3-month follow-up, the patients completed the 36-Item Short Form Health Survey questionnaire using a Spanish validated version. The Physical (PCS) and Mental (MCS) Component Summary scores were the main outcome variables. RESULTS: A total of 61 patients completed the study (group A, n=31; group B, n=30). There were no significant differences in PCS and MCS scores at baseline between the two study groups, but after 3 months of treatment, significantly higher mean PCS and MSC scores were observed in patients treated with the active omega-3 dietary supplement as compared with controls (mean [standard deviation] PCS score 53.33±5.57 versus 47.46±7.31, P=0.008; mean MCS score 54.60±5.64 versus 47.80±8.45, P=0.0005). Moreover, mean differences between values at 3 months as compared with baseline were statistically significant for patients in group B (PCS score 7.14±5.81, 95% confidence interval 4.97-9.31, P=0.000; MCS score 5.96±7.64, 95% confidence interval 3.10-8.81, P=0.0002), whereas mean differences in patients assigned to group A were not statistically significant. CONCLUSION: Dietary supplementation with a combination of omega-3 essential fatty acids and antioxidants had a significant beneficial effect on HRQoL (health-related quality of life) in patients with MGD.
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PURPOSE: To report two cases of desegmentation or fracture of the Ozurdex implant observed immediately after routine intravitreal implantation for macular oedema. PATIENTS: In two patients receiving intravitreal Ozurdex implant injection, a rare complication of fracture of implant was noted immediately after the injection. No additional complication was noted in either of the patients. On follow-up, the macular oedema had resolved and there were no further complications. DISCUSSION: We shared our experience with the manufacturer, and it was confirmed that, during the normal degradation process, the implant may become soft and break into pieces. Allergan shared their unpublished data on in vivo and in vitro drug release profile of one piece versus three pieces of implant, which is presented in this case report. CONCLUSIONS: With more and more microsurgical implantation procedures, clinicians should be well aware of these unusual although rare complications. Even though the desegmented implants do not appear to cause more intraocular complications compared with single-piece implants, patients with defragmented implants should be followed up carefully to monitor for unexpected complications.
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Dexametasona/administração & dosagem , Implantes de Medicamento , Falha de Equipamento , Glucocorticoides/administração & dosagem , Corpo Vítreo/efeitos dos fármacos , Idoso , Feminino , Humanos , Edema Macular/diagnóstico , Edema Macular/tratamento farmacológico , Masculino , Oclusão da Veia Retiniana/diagnóstico , Oclusão da Veia Retiniana/tratamento farmacológico , Tomografia de Coerência Óptica , Acuidade VisualRESUMO
OBJECTIVE: The aim of this study was to describe a family with cryopyrin-associated periodic syndrome (CAPS) in which the disease was unveiled after the ophthalmologic evaluation. METHODS: Family and personal histories from each of the patients were recorded. Each underwent a full ophthalmological examination along with the physical examination. The mutational analysis of the NLRP3 gene was performed by means of direct sequencing. RESULTS: The proband was admitted during an episode of unilateral anterior uveitis. She had a history of recurrent red eye and had been suffering episodes of skin rash and arthralgia induced by cold since childhood. At examination, she showed a reticulated corneal mid-stroma. Her mother and her younger sister also suffered from relapsing episodes of skin rash and fever triggered by cold as well as flares of red eye. They had developed premature hearing loss. In both cases, opacities in the corneal mid-stroma were evidenced with a slit lamp. The genetic analysis detected the heterozygous germline p.R260W mutation in the NLRP3 gene in the three women, confirming the diagnosis of CAPS. Treatment with anakinra resulted in complete remission of flares. CONCLUSION: In this family, a structural NLRP3 mutation was associated with classic MuckleWells features of different degrees of severity. Interstitial keratitis with corneal opacification, usually ascribed to neonatal-onset multisystem inflammatory disease, was found. We underscore that ocular involvement in MuckleWells syndrome should be carefully assessed, since it can lead to visual impairment.
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Proteínas de Transporte/genética , Síndromes Periódicas Associadas à Criopirina/genética , Mutação de Sentido Incorreto , Transtornos da Visão/genética , Antirreumáticos/uso terapêutico , Síndromes Periódicas Associadas à Criopirina/tratamento farmacológico , Feminino , Humanos , Proteína Antagonista do Receptor de Interleucina 1/uso terapêutico , Ceratite/genética , Pessoa de Meia-Idade , Proteína 3 que Contém Domínio de Pirina da Família NLR , Linhagem , Resultado do Tratamento , Uveíte Anterior/genética , Adulto JovemRESUMO
Ocriplasmin is a protease which has been approved for the treatment of symptomatic vitreomacular adhesion (VMA). A 63-year-old presented with blurred vision in the left eye and a best corrected visual acuity of 6/18. Optical coherence tomography revealed VMA with an underlying macular hole and she subsequently underwent a left intravitreal ocriplasmin injection. One week after the injection, VMA had been released but with enlargement of the macular hole and a drop in her BCVA to 6/60. This persisted at 1 month after the injection. It is important to warn patients that ocriplasmin may lead to an enlargement of their macular hole with resultant loss in visual acuity.
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PURPOSE: To report 2 cases of refractory idiopathic scleritis treated with rituximab. DESIGN: Interventional case series. METHODS AND RESULTS: Case 1: A 54-year-old woman, presented with anterior idiopathic scleritis in her right eye. Treatment with systemic steroids was not effective. Intravenous cyclophosphamide was discontinued after an adverse event. Case 2: A 43-year-old woman presented with idiopathic posterior scleritis in her left eye. Initial treatment with steroids was ineffective. In both cases, long-lasting remission without further relapses was achieved after 4 weekly doses (375 mg/m(2)) of rituximab. CONCLUSION: Rituximab was found to be an effective treatment for refractory idiopathic anterior and posterior scleritis.