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We report a case of a 28-year-old otherwise healthy female patient who presented with blurred vision in her right eye related to multiple branch retinal artery occlusions confirmed by fluorescein angiography. Investigation revealed positive antinuclear antibodies and an interatrial septal aneurysm on transthoracic echocardiography. The patient was treated with oral prednisolone and aspirin. Two months after her initial presentation, she developed hearing loss and tinnitus. Ophthalmological examination revealed temporal inferior and nasal inferior branch retinal artery occlusions in the left eye. Magnetic resonance imaging of the brain showed multifocal T2 hyperintense lesions in cortical and subcortical areas as well as the corpus callosum consistent with Susac's syndrome. The diagnosis of Susac's syndrome should be kept in mind in young patients presenting with multiple or recurrent retinal artery occlusions even in the absence of associated systemic symptoms to not delay appropriate management.
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PURPOSE: To report optical coherence tomography angiography findings in a patient with rickettsial retinitis. METHODS: A 29-year-old man complaining of acute blurring vision in the right eye associated with Rickettsia conorii infection underwent a comprehensive ocular examination, fluorescein angiography, spectral-domain optical coherence tomography, and swept-source optical coherence tomography angiography. RESULTS: Funduscopy showed two large areas of retinitis in the inferior macula along the distribution of the inferotemporal artery with associated retinal hemorrhages, retinal edema, and serous retinal detachment. Fluorescein angiography showed early hypofluorescence and late staining of white retinal lesions and associated adjacent retinal vascular leakage and optic disc hyperfluorescence. Optical coherence tomography angiography showed hypointense dark areas in the superficial capillary plexus and larger hypointense areas in the deep capillary plexus, outer retina, and choriocapillaris layer. The patient was treated with doxycycline and prednisone. Six weeks after presentation, retinal changes seen at the acute phase had resolved, leading to mild residual retinal pigment epithelial changes. Fluorescein angiography showed retinal capillary nonperfusion within areas of resolved retinitis. Spectral-domain optical coherence tomography findings included inner retinal atrophy, intraretinal cysts, and disruption of ellipsoid zone and interdigitation zone. Swept-source optical coherence tomography angiography showed well-delineated hypointense greyish areas of retinal capillary nonperfusion in both the superficial and deep capillary plexuses. Visual field testing revealed the presence of a corresponding paracentral defect. CONCLUSION: Optical coherence tomography angiography may be a valuable noninvasive imaging technique for detecting and analyzing occlusive complications associated with rickettsial retinitis.
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Anticorpos Antibacterianos/análise , Infecções Oculares Bacterianas/diagnóstico , Angiofluoresceinografia/métodos , Retina/patologia , Retinite/diagnóstico , Infecções por Rickettsia/diagnóstico , Rickettsia/imunologia , Tomografia de Coerência Óptica/métodos , Acuidade Visual , Adulto , Infecções Oculares Bacterianas/microbiologia , Fundo de Olho , Humanos , Masculino , Retinite/microbiologia , Infecções por Rickettsia/microbiologiaRESUMO
PURPOSE: To report the results of multimodal imaging of acute outer retinitis associated to mumps infection. METHODS: A patient with mumps-associated outer retinitis evaluated by color fundus photography, spectral domain optical coherence tomography (SD-OCT), optical coherence tomography angiography, fundus autofluorescence (FAF), fluorescein angiography (FA), and indocyanine green angiography (ICGA). RESULTS: We report a case of a 12-year-old boy who developed bilateral outer retinitis related to mumps. Ophthalmoscopy showed confluent areas of outer retinitis involving the posterior pole and the periphery with a centrifugal gyrate pattern. SD-OCT revealed a marked disorganization of the outer retinal layers with multiple highly reflective spicules. FA shows diffuse late hyperfluorescence with optic disk staining. ICGA shows macular and peripheral hyperfluorescent lesions with a geographical pattern in the late phases. The patient was treated with acyclovir and oral prednisone. Four weeks after presentation visual acuity remained unchanged, and retinal changes seen at the acute phase had resolved leading to extensive retinal atrophy and optic disk pallor. SD-OCT showed atrophy of the retinal pigment epithelial and outer retinal layers. FAF revealed scattered hyperautofluorescent lesions. Electrophysiology showed generalized retinal dysfunction. CONCLUSIONS: Mumps infection should be considered in the differential diagnosis of bilateral necrotizing outer retinitis in children and young adults. A multimodal imaging approach may help distinguish mumps-associated retinitis from other causes of viral retinitis and facilitate appropriate management.
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Infecções Oculares Virais/diagnóstico , Angiofluoresceinografia/métodos , Imagem Multimodal/métodos , Caxumba/complicações , Retina/diagnóstico por imagem , Retinite/diagnóstico , Tomografia de Coerência Óptica/métodos , Criança , Diagnóstico Diferencial , Infecções Oculares Virais/virologia , Fundo de Olho , Humanos , Masculino , Caxumba/diagnóstico , Oftalmoscopia , Retinite/etiologia , Retinite/virologia , Acuidade VisualRESUMO
A 65-year-old man with diabetes and a history of fever of unknown origin 2 weeks earlier complained of sudden decreased vision in the left eye. The patient was diagnosed with bilateral West Nile virus (WNV) chorioretinitis associated with occlusive retinal vasculitis in the left eye. Swept-source optical coherence tomography angiography (SS-OCTA) of the left eye showed extensive, well-delineated, hypointense non-perfusion areas and perifoveal capillary arcade disruption in the superficial capillary plexus, as well as larger non-perfusion areas, capillary rarefaction, and diffuse capillary network attenuation and disorganization in the deep capillary plexus. OCTA may be a valuable tool for noninvasively assessing occlusive retinal vasculitis associated with WNV infection. It allows an accurate detection and precise delineation of areas of retinal capillary nonperfusion in both the superficial and deep capillary plexuses. [Ophthalmic Surg Lasers Imaging Retina. 2017;48:672-675.].
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Coriorretinite/diagnóstico , Corioide/patologia , Infecções Oculares Virais/diagnóstico , Angiofluoresceinografia/métodos , Retina/patologia , Tomografia de Coerência Óptica/métodos , Febre do Nilo Ocidental/diagnóstico , Idoso , Anticorpos Antivirais/imunologia , Coriorretinite/virologia , Diagnóstico Diferencial , Infecções Oculares Virais/virologia , Fundo de Olho , Humanos , Masculino , Febre do Nilo Ocidental/virologia , Vírus do Nilo Ocidental/imunologiaRESUMO
PURPOSE: To describe optical coherence tomography angiography (OCTA) findings in eyes with Behçet uveitis (BU) and to compare these findings with those of fluorescein angiography (FA). METHODS: Prospective, comparative, cross-sectional study. Patients presenting with clinically active BU involving the posterior segment were evaluated using FA, spectral domain optical coherence tomography (SD-OCT), and OCTA. Optical coherence tomography angiograms were reviewed and analyzed. Foveal avascular zone areas and vessel densities were also reported. RESULTS: Twenty-five patients (44 eyes) were included. Perifoveal microvascular changes were more frequently observed on OCTA than on FA (95.5 vs 59.1%; P < 0.001). Disruption of the perifoveal capillary arcade, areas of retinal capillary nonperfusion/hypoperfusion, and perifoveal capillary abnormalities, including rarefied, dilated, or shunting vessels were observed more frequently using OCTA than FA (40.9 vs 25%; P = 0.039, 86.4 vs 34.1%; P < 0.001, and 84.1 vs 36.4%; P < 0.001, respectively). Areas of retinal capillary nonperfusion/hypoperfusion were more frequently observed in the deep than in the superficial capillary plexus (81.8 vs 63.6%; P = 0.039). Capillary abnormalities and disorganization of the normal architecture of the capillary network were more frequent in the deep than in the superficial capillary plexus (P < 0.001). Foveal avascular zone area was not significantly larger in eyes with BU than in control group in both the superficial and the deep capillary plexuses (0.4 vs 0.34 mm; P = 0.23 and 0.72 vs 0.53 mm; P = 0.053, respectively). Capillary vessel density was significantly lower in eyes with BU than in control group in the deep capillary plexus (13.7 vs 17.2 mm 21; P = 0.004). CONCLUSION: OCTA allows better visualization and characterization of perifoveal microvascular changes than FA in eyes with active BU. The deep capillary plexus seemed to be more severely involved than the superficial capillary plexus.
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Angiofluoresceinografia , Tomografia de Coerência Óptica , Uveíte/patologia , Adolescente , Adulto , Estudos Transversais , Feminino , Humanos , Masculino , Microvasos/diagnóstico por imagem , Microvasos/patologia , Pessoa de Meia-Idade , Estudos Prospectivos , Vasos Retinianos/diagnóstico por imagem , Vasos Retinianos/patologia , Uveíte/diagnóstico por imagem , Adulto JovemRESUMO
BACKGROUND: Varicella is a common infectious disease primarily of childhood that is usually benign and self-limited. It is, however, increasingly seen in adults who are at a higher risk of severe infection. Ocular complications of varicella are relatively uncommon and have been rarely described in adults. We describe herein five adults who developed ocular involvement in association with primary varicella-zoster virus infection. FINDINGS: Ocular manifestations included acute anterior uveitis in four eyes, with associated stromal keratitis in one of them, epithelial ulcerative keratitis in the two eyes of one patient, and acute retinal necrosis in one eye. One patient with acute anterior uveitis was treated with topical steroids and cycloplegic agents. The four other patients received topical or systemic antiviral drugs, with subsequent resolution of acute ocular inflammatory disease. CONCLUSIONS: The spectrum of chickenpox-associated ocular complications in adults is wide. Early diagnosis and appropriate management are mandatory to improve visual outcome.
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The purpose of this study is to compare the effect of topical diclofenac and topical dexamethasone on anterior chamber flare and postoperative pain following rhegmatogenous retinal detachment (RRD) surgery. This prospective study included 40 eyes of 40 patients treated for RRD. Twenty-eight patients underwent scleral buckling and 12 patients underwent 20-gauge pars plana vitrectomy (PPV). For each surgical procedure, patients were postoperatively randomly divided into two groups: the first group received topical dexamethasone phosphate 0.1 % four times daily for 28 days; the second group received topical diclofenac sodium 0.1 % three times daily for 28 days. The inflammatory reaction in the anterior chamber was measured with laser flare photometry preoperatively and 1, 7, 14, 28, and 90 days postoperatively. Pain level was evaluated with Scott's visual analog scale at day 1, 7, 14, and 28 postoperatively. For patients treated with scleral buckling, there was no significant difference between the two groups regarding mean aqueous flare at day 1 (p = 0.096), day 7 (p = 0.435), day 14 (p = 0.510), day 28 (p = 0.583), and day 90 (p = 0.423). The group who received diclofenac had significantly lower pain score at days 7, 14, and 28 (p = 0.048, p = 0.017, and p = 0.028, respectively). For patients treated with PPV, there was no significant difference between the two groups regarding mean aqueous flare at day 1 (p = 0.400), day 7 (p = 0.728), day 14 (p = 0.843), day 28 (p = 0.939), and day 90 (p = 0.568). Patients who received diclofenac had significantly lower pain score at days 7, 14, and 28 (p = 0.032, p = 0.030, and p = 0.023, respectively). Topical diclofenac seems to be as potent as topical dexamethasone in managing postoperative inflammatory response induced by surgery for RRD with better analgesic effect. Both of them are consequences of blood-aqueous barrier and blood-retinal barrier breakdown.
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Dexametasona/uso terapêutico , Diclofenaco/uso terapêutico , Dor Ocular/tratamento farmacológico , Dor Pós-Operatória/tratamento farmacológico , Descolamento Retiniano/cirurgia , Uveíte Anterior/tratamento farmacológico , Administração Tópica , Adolescente , Adulto , Idoso , Câmara Anterior/efeitos dos fármacos , Anti-Inflamatórios não Esteroides/administração & dosagem , Anti-Inflamatórios não Esteroides/uso terapêutico , Criança , Dexametasona/administração & dosagem , Diclofenaco/administração & dosagem , Dor Ocular/diagnóstico , Feminino , Glucocorticoides/administração & dosagem , Glucocorticoides/uso terapêutico , Humanos , Masculino , Pessoa de Meia-Idade , Soluções Oftálmicas , Medição da Dor , Dor Pós-Operatória/diagnóstico , Fotometria , Estudos Prospectivos , Recurvamento da Esclera , Uveíte Anterior/diagnóstico , VitrectomiaRESUMO
The purpose of this study was to describe the clinical and multimodal imaging findings in acute Vogt-Koyanagi-Harada (VKH) disease without clinically evident exudative retinal detachment (ERD). We retrospectively reviewed the charts of 18 patients (36 eyes), diagnosed with acute VKH disease without clinically evident ERD. All patients underwent complete ophthalmic examination, fundus photography, optical coherence tomography (OCT), B-scan ultrasonography, fluorescein angiography (FA), and indocyanine green angiography (ICGA). Of 18 patients, twelve (66.7 %) were female and 6 (33.3 %) were male. Mean age was 39 years (range, 23-60). Ten patients had been referred with an erroneous diagnosis of primary optic nerve disorder (8; 44.4 %) or isolated anterior uveitis (2; 11.1 %). Anterior chamber or vitreous inflammatory reaction was noted in 22 eyes (61.1 %), each. Fundus findings included optic disc swelling in 30 eyes (83.3 %), retinal striae in 20 eyes (55.5 %), and yellowish deep lesions in 3 eyes (8.3 %). OCT showed a shallow, localized subclinical ERD in 18 eyes (50 %), and retinal pigment epithelial folds in 23 eyes (63.9 %). B-scan ultrasonography showed diffuse, low- to medium-reflective choroidal thickening in all eyes. FA disclosed delayed choroidal perfusion in at least one eye of all patients (100 %), mild pinpoint leakage in 21 eyes (58.3 %), optic disc hyperfluorescence in 35 eyes (97.2 %) and choroidal folds in 13 eyes (36.1 %). ICGA findings included delayed choroidal perfusion in 24 eyes (66.7 %), decrease in the number of large choroidal vessels in 36 eyes (100 %), fuzzy choroidal vessels in 35 eyes (97.2 %), and hypofluorescent dark dots in 28 eyes (77.8 %). The association of bilateral optic disc edema with retinal striae and intraocular inflammatory reaction highly suggests acute VKH disease. A multimodal imaging approach including fundus photography, OCT, B-scan ultrasonography, FA, and ICGA provides important clues for the definite diagnosis and help differentiate VKH disease from primary optic nerve disorders.
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Síndrome Uveomeningoencefálica/patologia , Doença Aguda , Adulto , Doenças da Coroide/etiologia , Doenças da Coroide/patologia , Feminino , Angiofluoresceinografia , Humanos , Masculino , Pessoa de Meia-Idade , Imagem Multimodal , Papiledema/etiologia , Papiledema/patologia , Fotografação , Descolamento Retiniano/etiologia , Descolamento Retiniano/patologia , Estudos Retrospectivos , Tomografia de Coerência Óptica , Ultrassonografia , Síndrome Uveomeningoencefálica/diagnóstico por imagem , Adulto JovemRESUMO
BACKGROUND: Marshall syndrome is a rare autosomal dominant skeletal dysplasia. It associates a particular facial dysmorphism with midface hypoplasia, ocular abnormalities and sensorineural hearing loss. It is caused by heterozygous mutations in COL11A1 gene coding the 1 chain of collagen XI. Stickler syndrome is the principal differential diagnosis of Marshall syndrome. AIM: Clinical and radiological study of Marshall syndrome in a Tunisian family with a linkage study of the COL11A1 gene to this disease. METHODS: We report the clinical and the radiological findings of a Tunisian family including 8 members affected by Marshall syndrome. The linkage of the COL11A1 gene to this disease was tested using the polymorphic microsatellite markers of DNA. RESULTS: A variability of the clinical expression of Marshall syndrome was reported. Specific Marshall phenotype and an overlapping phenotype between the Marshall and Stickler syndromes were observed among the affected members of this family. The ocular manifestations were also heterogeneous. Marshall syndrome's specific radiological signs were found. The linkage study supports the linkage of the abnormal phenotype to the COL11A1 gene. CONCLUSION: There is a variability of the clinical expression among the affected members of the study's family. We will continue searching the causative mutation to establish a clear genotype- phenotype correlation.
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Catarata/genética , Colágeno Tipo XI/deficiência , Anormalidades Craniofaciais/genética , Perda Auditiva Neurossensorial/genética , Mutação , Osteocondrodisplasias/genética , Adulto , Idoso , Pré-Escolar , Colágeno Tipo XI/genética , Feminino , Humanos , Recém-Nascido , Masculino , Linhagem , Tunísia , Adulto JovemRESUMO
Usher syndrome (USH) is an autosomal recessive disorder characterized by combined deafness-blindness. It accounts for about 50% of all hereditary deafness blindness cases. Three clinical subtypes (USH1, USH2, and USH3) are described, of which USH1 is the most severe form, characterized by congenital profound deafness, constant vestibular dysfunction, and a prepubertal onset of retinitis pigmentosa. We performed whole exome sequencing in four unrelated Tunisian patients affected by apparently isolated, congenital profound deafness, with reportedly normal ocular fundus examination. Four biallelic mutations were identified in two USH1 genes: a splice acceptor site mutation, c.2283-1G>T, and a novel missense mutation, c.5434G>A (p.Glu1812Lys), in MYO7A, and two previously unreported mutations in USH1G, i.e. a frameshift mutation, c.1195_1196delAG (p.Leu399Alafs*24), and a nonsense mutation, c.52A>T (p.Lys18*). Another ophthalmological examination including optical coherence tomography actually showed the presence of retinitis pigmentosa in all the patients. Our findings provide evidence that USH is under-diagnosed in Tunisian deaf patients. Yet, early diagnosis of USH is of utmost importance because these patients should undergo cochlear implant surgery in early childhood, in anticipation of the visual loss.
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Surdez/genética , Exoma , Estudo de Associação Genômica Ampla , Sequenciamento de Nucleotídeos em Larga Escala , Mutação , Conexina 26 , Conexinas/genética , Família , Feminino , Genótipo , Humanos , Masculino , Miosinas/genética , Linhagem , Fenótipo , Retina/metabolismo , Retina/patologia , TunísiaRESUMO
BACKGROUND: Orbital infections (OI) are a serious disorder that may results in visual and systemic morbidity. AIM: To study epidemiologic data and outcome of OI in a tertiary eye care center. METHODS: Retrospective study of 28 patients (28 eyes) with OI. All patients underwent detailed ophthalmic examination, otolaryngology examination, and cranio-orbital computed tomography scan. All patients received parenteral probabilistic antibiotic treatment then adapted depending on the sensitivity of antibiogram and clinical evolution, associated or not to corticosteroid treatment. The mean follow-up was 14 months. RESULTS: The mean age of our patients was 35.9 years. Fifteen patients (54%) were male. Of 28 cases, retroseptal cellulitis was the most common, noted in 67.8% of cases. subperiosteal or orbital abscess was recorded in 28.6% of the cases. Sinusitis was the most common etiology, found in 39.3% of cases. Treatment was based on empirical broad spectrum systemic antibiotics in all cases. Surgical management was performed in 39.3% of cases. Bacteriological samples were obtained for 28.5% of patients, with Staphylococcus aureus the most frequently isolated pathogen (5 cases; 62.5%). The evolution was favorable with complete resolution without sequelae in 92.8% of the cases and improvement of visual acuity in 82% of cases. Causes of poor visual outcome were corneal perforation, cataract and retinal detachment. CONCLUSIONS: In our series, OI affects children and young adults. Their prognosis is generally favorable provided rapid and appropriate management.
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The purpose of this study was to determine final diagnosis of patients referred with a diagnosis of neuroretinitis. A retrospective study of 40 patients with optic disc oedema with macular star (ODOMS) referred with a diagnosis of neuroretinitis was conducted. The final diagnosis was neuroretinitis in 26 patients (65%), with most of these patients (96.1%) having unilateral involvement. Main underlying aetiologies included cat scratch disease (30.8%), rickettsiosis (19.2%), and idiopathic neuroretinitis (23.1%). The remaining 14 patients (35%) had ODOMS that had been mistaken for neuroretinitis. Of these patients, 42.8% were found to have a previously unknown malignant systemic hypertension in association with bilateral ODOMS. Neuroretinitis, usually unilateral, should be differentiated from other causes of unilateral or most often bilateral ODOMS that may masquerade as neuroretinitis, mainly malignant systemic hypertension. This is essential to avoid inappropriate work-up and management and subsequent potential visual or systemic morbidity.
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PURPOSE: To describe the pattern of acute retinal necrosis (ARN) syndrome in a referral center in Tunisia. METHODS: Retrospective review of the charts of 12 patients (12 eyes). RESULTS: Necrotizing retinitis involved >50% of the retina in 33.3% of eyes. Polymerase chain reaction on aqueous humor sample identified herpes simplex virus-1 in 4 eyes (33.3%) and varicella zoster virus in 3 eyes (25%), and was negative in 5 eyes (41.7%). All patients received intravenous acyclovir, followed by oral antivirals. Follow-up ranged from 6 to 16 months. Retinal detachment (RD) occurred in 3 eyes (25%), but no patient developed bilateral ARN. Final visual acuity was 20/200 or worse in 7 eyes (58.3%). Delay in diagnosis (p = 0.015), macular involvement (p = 0.045), development of RD (p = 0.018), and 25-50% of retinal involvement (p = 0.045) were associated with a worse visual outcome. CONCLUSION: ARN carries poor visual prognosis in Tunisia.
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Infecções Oculares Virais/epidemiologia , Herpes Simples/complicações , Herpes Zoster Oftálmico/complicações , Encaminhamento e Consulta , Síndrome de Necrose Retiniana Aguda/epidemiologia , DNA Viral/análise , Infecções Oculares Virais/virologia , Feminino , Seguimentos , Herpes Simples/epidemiologia , Herpes Simples/virologia , Herpes Zoster Oftálmico/epidemiologia , Herpes Zoster Oftálmico/virologia , Herpesvirus Humano 1/genética , Herpesvirus Humano 3/genética , Humanos , Incidência , Masculino , Síndrome de Necrose Retiniana Aguda/etiologia , Síndrome de Necrose Retiniana Aguda/virologia , Estudos Retrospectivos , TunísiaRESUMO
The aim of this study was to evaluate and compare 10-MHz and 20-MHz ultrasonography in the assessment of patients with optic nerve head drusen (ONHD). The design of the study was prospective, comparative and cross-sectional. Ultrasonographic examination with a 10 and 20 MHz probe was performed in 45 eyes with suspected ONHD. The 20 MHz probe showed drusen in 43 eyes (95.5 %), while the 10 MHz probe revealed drusen in only 33 eyes (73.3 %, p = 0.0001). The 10 MHz probe showed surface drusen in 10 eyes (22.2 %), while the 20 MHz probe showed surface drusen in 14 eyes (31.1 %) (sensitivity 71.4 %; 95 % CI [47.6-95.1 %]). The 10 MHz probe showed buried drusen in 23 eyes (23.1 %), while the 20 MHz probe showed buried drusen in 29 eyes (64.4 %) (sensitivity 79.3 %; 95 % CI [56.6-86.2 %]). The sensitivity was 76.7 % with 10 MHz probe compared to a 20 MHz as gold standard. The use of 20 MHz probe increased the sensitivity of buried disc drusen by 1.5 times and surface disc drusen by nearly 2 times. Using the 10 MHz probe alone the false negative error rate was 83.3 %. The 20 MHz probe has shown itself to be an excellent method for the diagnosis of ONHD; it is more sensitive and reliable than 10 MHz probe and should be considered in the management of patients with clinical evidence of ONHD.
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Drusas do Disco Óptico/diagnóstico por imagem , Adolescente , Adulto , Estudos Transversais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Sensibilidade e Especificidade , Ultrassonografia , Adulto JovemRESUMO
Primary congenital glaucoma (PCG) is responsible for a significant proportion of childhood blindness in Tunisia. Early prevention based on genetic diagnosis is therefore required. This study sought to determine the frequency of CYP1B1 (cytochrome P450, family 1, subfamily B, polypeptide 1) mutations in 18 PCG patients, recruited from Central and Southern of Tunisia. Genomic DNA was extracted and the coding regions of CYP1B1 were analysed by direct sequencing. A phylogenetic network of CYP1B1 haplotypes was drawn using the median-joining algorithm. Sequence analysis revealed a "tetra-allelic mutation" (two novel mutations, p.F231I and p.P437A in the homozygous state) in one patient. The healthy members of his family carried those variations on the same allele. Two previously described mutations p.G61E and c.535delG were also identified in the homozygous state in seven and two probands, respectively. Seven single-nucleotide polymorphisms were identified and used to generate haplotypes. Our results showed that the CYP1B1 mutations were present in 55% of Tunisian PCG patients' alleles. Haplotype analysis allowed us to define the proto-haplotype and to confirm historical migratory flows. Establishment of PCG genetic aetiology in Tunisia will improve genetic diagnosis and counselling.
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Citocromo P-450 CYP1B1/genética , Glaucoma/congênito , Glaucoma/genética , Mutação , Consanguinidade , Citocromo P-450 CYP1B1/química , Análise Mutacional de DNA , Feminino , Genótipo , Glaucoma/diagnóstico , Haplótipos , Humanos , Lactente , Recém-Nascido , Masculino , Modelos Moleculares , Linhagem , Filogenia , Polimorfismo de Nucleotídeo Único , Conformação Proteica , TunísiaRESUMO
We report a case of a 14-year-old otherwise healthy patient who developed acute retinal periphlebitis mimicking frosted branch angiitis inferotemporally and associated exudative retinal detachment in the left eye following blunt trauma. Fluorescein angiography revealed delayed filling of inferotemporal branch retinal vein and late leakage of sheathed retinal venules, and late pooling in the area of exudative retinal detachment. Indocyanine green angiography showed a crescent-shaped hypofluorescent streak concentric to the optic disk inferiorly highly suggestive of choroidal rupture. The patient was treated with oral prednisone, with gradual tapering over a period of 15 days. One month after presentation, retinal vein sheathing and exudative retinal detachment had resolved, with the development of peripapillary subretinal fibrosis, macular atrophy, pseudomacular hole, and epiretinal membrane. The acute perivenular sheathing in our patient might be related to autoimmune-mediated reaction induced by retinal vascular damage caused by severe ocular trauma. Fluorescein angiography and indocyanine green angiography findings might suggest that the retinal detachment could be caused by leakage from choroid through Bruch's membrane and retinal pigment epithelium rupture or by transient dysfunction of the outer or inner blood-retinal barrier.
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Traumatismos Oculares/complicações , Descolamento Retiniano/etiologia , Vasculite Retiniana/etiologia , Ferimentos não Penetrantes/complicações , Doença Aguda , Adolescente , Exsudatos e Transudatos , Feminino , HumanosRESUMO
UNLABELLED: Abstract Purpose: To characterize and analyze ocular involvement associated with visual loss in a cohort of patients with rickettsial disease. METHODS: Retrospective study of 16 eyes of 14 patients. RESULTS: Mean initial visual acuity (VA) was 20/63 (range, 20/800-20/25). White retinal lesions infiltrating inner retina was the most common finding occurring in 14 eyes (87.5%). It was associated with a serous retinal detachment (SRD), accurately detectable by optical coherence tomography, in 11 eyes (78.6%). Other findings included optic neuropathy in 7 eyes (43.75%), cystoid macular edema in 1 eye (6.25%), branch retinal artery occlusion in 1 eye (6.25%), and choroidal neovascularization in 1 eye (6.25%). Thirteen patients were treated with a 2-week course of oral doxycycline 200 mg/day. Mean final VA was 20/40. CONCLUSIONS: Inner retinitis, associated with mild vitritis and SRD, and optic neuropathy are the most common vision-threatening ocular manifestations of rickettsial disease.
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Cegueira/etiologia , Infecções Oculares Bacterianas/complicações , Infecções por Rickettsia/complicações , Rickettsia/imunologia , Acuidade Visual , Adolescente , Adulto , Anticorpos Antibacterianos/análise , Cegueira/diagnóstico , Cegueira/fisiopatologia , Diagnóstico Diferencial , Infecções Oculares Bacterianas/diagnóstico , Infecções Oculares Bacterianas/microbiologia , Feminino , Angiofluoresceinografia , Seguimentos , Fundo de Olho , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Infecções por Rickettsia/diagnóstico , Infecções por Rickettsia/microbiologia , Tomografia de Coerência Óptica , Adulto JovemRESUMO
Emergent and resurgent arthropod vector-borne diseases are major causes of systemic morbidity and death and expanding worldwide. Among them, viral and bacterial agents including West Nile virus, Dengue fever, Chikungunya, Rift Valley fever, and rickettsioses have been recently associated with an array of ocular manifestations. These include anterior uveitis, retinitis, chorioretinitis, retinal vasculitis and optic nerve involvement. Proper clinical diagnosis of any of these infectious diseases is based on epidemiological data, history, systemic symptoms and signs, and the pattern of ocular involvement. The diagnosis is usually confirmed by the detection of a specific antibody in serum. Ocular involvement associated with emergent infections usually has a self-limited course, but it can result in persistent visual impairment. There is currently no proven specific treatment for arboviral diseases, and therapy is mostly supportive. Vaccination for humans against these viruses is still in the research phase. Doxycycline is the treatment of choice for rickettsial diseases. Prevention, including public measures to reduce the number of mosquitoes and personal protection, remains the mainstay for arthropod vector disease control. Influenza A (H1N1) virus was responsible for a pandemic human influenza in 2009, and was recently associated with various posterior segment changes.