Assuntos
Doenças Ósseas Metabólicas/complicações , Medula Óssea/anormalidades , Disceratose Congênita/complicações , Retina/diagnóstico por imagem , Telangiectasia Retiniana/etiologia , Feminino , Angiofluoresceinografia/métodos , Fundo de Olho , Humanos , Lactente , Telangiectasia Retiniana/diagnósticoAssuntos
Doença Granulomatosa Crônica/complicações , Doença Granulomatosa Crônica/diagnóstico , Fenótipo , Telangiectasia Retiniana/diagnóstico , Telangiectasia Retiniana/etiologia , Biópsia , Criança , Diagnóstico Diferencial , Feminino , Doença Granulomatosa Crônica/etiologia , Humanos , Imuno-Histoquímica , Masculino , Mutação , NADPH Oxidases/genética , Radiografia Torácica , Avaliação de Sintomas , Tomografia Computadorizada por Raios XRESUMO
We report a case of 22-year-old young male who presented with a 3-month history of gradual and painless decrease of vision in his right eye (RE). On ophthalmological examination, best-corrected visual acuity in his RE was counting finger close to the face. Left eye ophthalmic examination was unremarkable. RE indirect ophthalmoscopy revealed multiple telangiectatic vessels, aneurysmal dilations, extensive yellow (lipid) exudation over the posterior pole along with perivascular exudation, and multiple sclerosed vessels in peripheral retina. Fluorescein angiography also revealed progressive leakage from telangiectasias, multiple aneurysmal outpouchings, extensive capillary dropouts, and vascular communicating channels in all quadrants. Spectral-domain-optical coherence tomography of macula demonstrated marked intraretinal fluid. Based on the above findings, a diagnosis of healed retinal vasculitis with Coats'-like response was made. The patient received 4-weekly two intravitreal bevacizumab injections which resulted in stabilization of the retinal findings and improvement in visual acuity.
Assuntos
Bevacizumab/administração & dosagem , Telangiectasia Retiniana/etiologia , Vasculite Retiniana/complicações , Inibidores da Angiogênese/administração & dosagem , Angiofluoresceinografia , Fundo de Olho , Humanos , Injeções Intravítreas , Macula Lutea/patologia , Masculino , Oftalmoscopia , Telangiectasia Retiniana/diagnóstico , Telangiectasia Retiniana/tratamento farmacológico , Vasculite Retiniana/diagnóstico , Vasculite Retiniana/tratamento farmacológico , Tomografia de Coerência Óptica , Adulto JovemAssuntos
Microaneurisma/diagnóstico , Atrofia Óptica Hereditária de Leber/diagnóstico , Angiofluoresceinografia , Humanos , Masculino , Microaneurisma/etiologia , Microaneurisma/patologia , Marrocos , Atrofia Óptica Hereditária de Leber/complicações , Telangiectasia Retiniana/diagnóstico , Telangiectasia Retiniana/etiologia , Vasos Retinianos/patologia , Tomografia de Coerência Óptica , Adulto JovemRESUMO
PURPOSE: To report a case of macular telangiectasia Type 2 in a teenage boy with consanguineous parents. METHOD: Clinical case report and literature review. RESULTS: A healthy 14-year-old boy presented with mildly reduced vision in both eyes. Visual acuity was 20/30 in the right eye and 20/25 in the left eye. Fundus examination revealed intraretinal crystals in both eyes and an intraretinal pigment plaque temporal to the fovea in the left eye. Neither eye showed evidence of choroidal neovascular membrane or peripheral telangiectasia. Fluorescein angiography revealed temporal juxtafoveal leakage in both eyes. Spectral-domain optical coherence tomography showed ellipsoid layer and external limiting membrane disruption in the right eye and an inner retinal pigment plaque with shadowing in the left eye. The patient was of South Asian descent, and his parents were first cousins. His younger brother and parents were unaffected with a normal fundus examination. CONCLUSION: This is the youngest reported case of a healthy individual with MacTel Type 2, which usually manifests in the fifth or sixth decade. This is also the only reported case of MacTel Type 2 with consanguineous parents. This proband offers a unique opportunity to study possible monogenic etiologies of the condition.
Assuntos
Consanguinidade , Telangiectasia Retiniana/diagnóstico , Adolescente , Angiofluoresceinografia , Humanos , Masculino , Telangiectasia Retiniana/etiologia , Tomografia de Coerência ÓpticaRESUMO
PURPOSE: The aim of this study was to evaluate risk factors in patients with macular telangiectasia (MacTel) 2A in an Asian population. This was a hospital-based case-control study. METHODS: We reviewed the case records of patients in our hospital, diagnosed as MacTel 2A over a 3-year period from April 2011 to March 2014. Controls were selected from patients seen in the hospital at the same time for visual defects after matching for age and sex. A multivariate logistic regression model was constructed using the variables that showed a statistically significant association (P < 0.05) with MacTel 2A in the univariate analysis. RESULTS: The mean age of the patients with MacTel 2A was 58.63 years. A majority (76; 73.8%) of the patients were female. Of the patients with MacTel 2A, 61 (59.2%) patients had diabetes mellitus, and 50 (48.5%) revealed hypertension. Multivariate logistic regression analysis revealed the presence of diabetes mellitus to be the risk factor with the highest odds ratio (OR) of 5.7 followed by hypertension with an OR of 2.6. Binary logistic regression showed hypermetropia to have a greater risk factor compared to emmetropia, OR 2.64. CONCLUSION: Our case-control study revealed that MacTel 2A is significantly associated with systemic diseases. Diabetes mellitus was found to have the strongest association with MacTel 2A, showing a high OR of 5.7. Systemic hypertension followed by an OR of 2.6. Compared to emmetropia, hypermetropia was significantly associated with MacTel 2A. There could be a genetic link between the two. Determining risk factors draws us close to the goal of identifying the etiopathogenesis of MacTel 2A.
Assuntos
Complicações do Diabetes/complicações , Hipertensão/complicações , Macula Lutea/patologia , Telangiectasia Retiniana/epidemiologia , Medição de Risco , Adulto , Idoso , Estudos de Casos e Controles , Feminino , Angiofluoresceinografia , Fundo de Olho , Humanos , Índia/epidemiologia , Masculino , Pessoa de Meia-Idade , Telangiectasia Retiniana/diagnóstico , Telangiectasia Retiniana/etiologia , Fatores de Risco , Tomografia de Coerência ÓpticaRESUMO
Linear scleroderma is a characteristic form of scleroderma that typically affects children. Ocular manifestations may be present, especially when the frontoparietal area of the head is affected. We present the case of a 5-year-old boy with craniofacial linear scleroderma ("en coup de sabre") who developed exudative retinal detachment. Angiographic and neuroimaging findings are presented, and the importance of regular fundus examination is highlighted.
Assuntos
Dermatoses Faciais/complicações , Descolamento Retiniano/etiologia , Telangiectasia Retiniana/etiologia , Dermatoses do Couro Cabeludo/complicações , Esclerodermia Localizada/complicações , Pré-Escolar , Quimioterapia Combinada , Inibidores Enzimáticos/uso terapêutico , Exsudatos e Transudatos , Dermatoses Faciais/diagnóstico , Angiofluoresceinografia , Glucocorticoides/uso terapêutico , Humanos , Imunossupressores/uso terapêutico , Imageamento por Ressonância Magnética , Masculino , Metotrexato/uso terapêutico , Metilprednisolona/uso terapêutico , Ácido Micofenólico/uso terapêutico , Descolamento Retiniano/diagnóstico , Telangiectasia Retiniana/diagnóstico , Dermatoses do Couro Cabeludo/diagnóstico , Esclerodermia Localizada/diagnósticoRESUMO
PURPOSE: To report a rare case of exudative maculopathy in a patient with facioscapulohumeral muscular dystrophy (FSHD), and its management. METHODS: Observational case report. RESULTS: A 62-year-old man with genetically confirmed FSHD was referred to our department complaining of decreased visual acuity in his left eye. At presentation, right eye examination was unremarkable and best-corrected visual acuity (BCVA) was 20/20. Left eye BCVA was 20/100 and it presented a dense cataract with the evidence of macular lipid exudation. Cataract surgery combined with intravitreal bevacizumab improved BCVA to 20/20. Postoperative fundus examination disclosed focal macular retinal microvascular dilations with lipid exudation inferotemporal to the fovea. Fluorescein angiography highlighted these macular telangiectatic abnormalities but no peripheral lesions were detected. Spectral domain optical coherence tomography (SD-OCT) showed mild temporal retinal thickening, sparing the fovea. A diagnosis of exudative maculopathy due to macular telangiectasia secondary to FSHD was established. One year later, his left eye vision dropped to 20/32 and macular SD-OCT showed an aggravation of the intraretinal fluid and exudation. He was then submitted to a second intravitreal injection of bevacizumab followed by one angio-guided focal laser photocoagulation session, with a significant improvement. Twelve months later, his BCVA remained 20/20 on both eyes with no recurrence of exudation. CONCLUSION: The present work shows that in cases of visual-threatening macular exudation, intravitreal anti-vascular endothelial growth factor injections combined with focal laser photocoagulation may be a safe and effective treatment. This article also highlights that all FSHD patients should be screened for asymptomatic retinal vascular disorders.
Assuntos
Inibidores da Angiogênese/uso terapêutico , Bevacizumab/uso terapêutico , Fotocoagulação a Laser , Edema Macular/terapia , Distrofia Muscular Facioescapuloumeral/terapia , Telangiectasia Retiniana/terapia , Terapia Combinada , Exsudatos e Transudatos , Angiofluoresceinografia , Humanos , Injeções Intravítreas , Edema Macular/diagnóstico , Edema Macular/etiologia , Masculino , Pessoa de Meia-Idade , Distrofia Muscular Facioescapuloumeral/complicações , Distrofia Muscular Facioescapuloumeral/diagnóstico , Telangiectasia Retiniana/diagnóstico , Telangiectasia Retiniana/etiologia , Tomografia de Coerência Óptica , Fator A de Crescimento do Endotélio Vascular/antagonistas & inibidores , Acuidade VisualRESUMO
PURPOSE: To report the clinical features of bilateral Coats reaction in a patient with Bannayan-Zonana syndrome. METHODS: The clinical course and retinal manifestations of a 21-year-old patient with Bannayan-Zonana syndrome and bilateral Coats reaction were studied. Retinal manifestations were documented with clinical examination, ultrawide-field color imaging, and ultrawide-field fluorescein angiography. RESULTS: Best-corrected visual acuities were 20/25 OD and 20/25 OS. Anterior segment examinations were normal bilaterally. The inferotemporal quadrant of the left retina demonstrated retinal telangiectasias, exudation, and a neurosensory retinal detachment extending to the mid-periphery. Fluorescein angiography demonstrated bilateral peripheral nonperfusion and vascular staining. An epiretinal membrane also involved the left macula. CONCLUSION: Bannayan-Zonana syndrome is an autosomal-dominant, hamartomatous disease characterized by a mutation spectrum that involves genes responsible for vascular development. Retinal vascular abnormalities and exudation can be a manifestation of this syndrome.
Assuntos
Síndrome do Hamartoma Múltiplo/complicações , Telangiectasia Retiniana/etiologia , Diagnóstico Diferencial , Angiofluoresceinografia , Fundo de Olho , Síndrome do Hamartoma Múltiplo/diagnóstico , Humanos , Masculino , Telangiectasia Retiniana/diagnóstico , Acuidade Visual , Adulto JovemAssuntos
Ataxia/diagnóstico , Neoplasias Encefálicas/diagnóstico , Calcinose/diagnóstico , Cistos do Sistema Nervoso Central/diagnóstico , Leucoencefalopatias/diagnóstico , Espasticidade Muscular/diagnóstico , Doenças Retinianas/diagnóstico , Telangiectasia Retiniana/diagnóstico , Convulsões/diagnóstico , Ataxia/complicações , Ataxia/tratamento farmacológico , Bevacizumab/uso terapêutico , Neoplasias Encefálicas/complicações , Neoplasias Encefálicas/tratamento farmacológico , Calcinose/complicações , Calcinose/tratamento farmacológico , Cistos do Sistema Nervoso Central/complicações , Cistos do Sistema Nervoso Central/tratamento farmacológico , Angiofluoresceinografia , Hemorragia Gastrointestinal/diagnóstico , Hemorragia Gastrointestinal/tratamento farmacológico , Hemorragia Gastrointestinal/etiologia , Humanos , Leucoencefalopatias/complicações , Leucoencefalopatias/tratamento farmacológico , Imageamento por Ressonância Magnética , Masculino , Espasticidade Muscular/complicações , Espasticidade Muscular/tratamento farmacológico , Doenças Retinianas/complicações , Doenças Retinianas/tratamento farmacológico , Telangiectasia Retiniana/etiologia , Convulsões/complicações , Convulsões/tratamento farmacológico , Adulto JovemRESUMO
An 11-year-old girl with Joubert syndrome was evaluated for a dim red reflex in her left eye. Fundus examination revealed retinal telangiectasias bilaterally compatible with Coats-like pigmentary retinopathy, a phenomenon not previously reported in Joubert syndrome. Coats-like exudative retinopathy may result in permanent visual loss if left untreated. The exudative retinopathy was controlled after multiple sessions of indirect laser photocoagulation and cryotherapy, with a good visual outcome.
Assuntos
Anormalidades Múltiplas/diagnóstico , Cerebelo/anormalidades , Anormalidades do Olho/diagnóstico , Doenças Renais Císticas/diagnóstico , Retina/anormalidades , Telangiectasia Retiniana/etiologia , Anormalidades Múltiplas/patologia , Cerebelo/patologia , Criança , Anormalidades do Olho/patologia , Feminino , Humanos , Doenças Renais Císticas/patologia , Fotocoagulação a Laser , Retina/patologia , Telangiectasia Retiniana/diagnósticoRESUMO
Dyskeratosis congenita (DC) is the prototypical member of a family of diseases caused by defective telomere maintenance. These "telomeropathies" also include Hoyeraal-Hreidarsson syndrome (HH) and Revesz syndrome, which are severe forms of dyskeratosis congenita, as well as a subset of idiopathic pulmonary fibrosis, aplastic anemia, and Coats' plus syndrome. Retinopathy has only rarely been reported in DC and HH, but is universally present in Coats' plus and Revesz syndromes. The care of these patients is typically a multidisciplinary effort, and this should include monitoring by an ophthalmologist.
Assuntos
Disceratose Congênita/complicações , Deficiência Intelectual/complicações , Microcefalia/complicações , Neovascularização Retiniana/etiologia , Telangiectasia Retiniana/etiologia , Vasos Retinianos/patologia , Pré-Escolar , Retardo do Crescimento Fetal , Angiofluoresceinografia , Humanos , Pressão Intraocular , Masculino , Neovascularização Retiniana/diagnóstico , Telangiectasia Retiniana/diagnóstico , Acuidade VisualAssuntos
Distrofia Muscular Facioescapuloumeral/genética , Distrofia Miotônica/genética , Tomografia de Coerência Óptica , Humanos , Distrofia Muscular Facioescapuloumeral/patologia , Distrofia Miotônica/patologia , Telangiectasia Retiniana/etiologia , Telangiectasia Retiniana/patologia , Vasos Retinianos/patologiaRESUMO
Cornelia de Lange syndrome (CdLS) can result in multiple congenital abnormalities and numerous ocular findings. We report the case of a 6-year-old boy with history of CdLS who presented with Coats disease. The findings in this case are compared to those found in the two previously reported cases of concomitant CdLS and Coats disease. The low incidence of these two disorders makes it highly unlikely that the connection is random in these 3 cases. The number of patients with both Cornelia de Lange syndrome and Coats disease is likely underestimated due to the difficulty in examining the peripheral retina in this patient population.
Assuntos
Síndrome de Cornélia de Lange/complicações , Descolamento Retiniano/etiologia , Telangiectasia Retiniana/etiologia , Inibidores da Angiogênese/uso terapêutico , Bevacizumab/uso terapêutico , Criança , Síndrome de Cornélia de Lange/diagnóstico , Síndrome de Cornélia de Lange/tratamento farmacológico , Exsudatos e Transudatos , Humanos , Injeções Intravítreas , Masculino , Descolamento Retiniano/diagnóstico por imagem , Descolamento Retiniano/tratamento farmacológico , Telangiectasia Retiniana/diagnóstico , Telangiectasia Retiniana/tratamento farmacológico , Ultrassonografia , Fator A de Crescimento do Endotélio Vascular/antagonistas & inibidores , Acuidade Visual/efeitos dos fármacosRESUMO
A 50-year-old Indian male presented with defective vision in the right eye for 6 months. He was diagnosed to have idiopathic macular telangiectasia (IMT) type 1 associated with diffuse macular edema and multiple retinal arterial macroaneurysms (RAM). Intravitreal bevacizumab was administered for the treatment of macular edema, following which there was a rupture of a preexisting RAM with multilevel retinal hemorrhages. The hemorrhage gradually resolved over time with foveal thinning noted at last visit. We report this case for the rare occurrence of IMT type 1 and also the possibly associated rupture of RAM post intravitreal bevacizumab injection.
Assuntos
Aneurisma Roto/etiologia , Inibidores da Angiogênese/uso terapêutico , Anticorpos Monoclonais Humanizados/uso terapêutico , Edema Macular/tratamento farmacológico , Complicações Pós-Operatórias , Artéria Retiniana/patologia , Telangiectasia Retiniana/etiologia , Aneurisma Roto/diagnóstico , Bevacizumab , Cegueira/etiologia , Angiofluoresceinografia , Humanos , Injeções Intravítreas , Edema Macular/etiologia , Masculino , Pessoa de Meia-Idade , Hemorragia Retiniana/diagnóstico , Hemorragia Retiniana/etiologia , Telangiectasia Retiniana/diagnóstico , Tomografia de Coerência Óptica , Fator A de Crescimento do Endotélio Vascular/antagonistas & inibidores , Acuidade Visual/fisiologiaRESUMO
A 3-year-old Malay boy with strabismus in the left eye was found to have Coats disease in the same eye and underlying Takayasu arteritis. Coats disease is usually idiopathic but can be associated with systemic and ocular conditions. To our knowledge, this is the first reported case of Coats disease associated with Takayasu arteritis.