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1.
Neuropediatrics ; 52(4): 302-309, 2021 08.
Artigo em Inglês | MEDLINE | ID: mdl-34192786

RESUMO

Hypomyelination and congenital cataract (HCC) is characterized by congenital cataract, progressive neurologic impairment, and diffuse myelin deficiency. This autosomal recessive disorder is caused by homozygous variant in the FAM126A gene. Five consanguineous Tunisian patients, belonging to three unrelated families, underwent routine blood tests, electroneuromyography, and magnetic resonance imaging of the brain. The direct sequencing of FAM126A exons was performed for the patients and their relatives. We summarized the 30 previously published HCC cases. All of our patients were carriers of a previously reported c.414 + 1G > T (IVS5 + 1G > T) variant, but the clinical spectrum was variable. Despite the absence of a phenotype-genotype correlation in HCC disease, screening of this splice site variant should be performed in family members at risk.


Assuntos
Catarata , Doenças Desmielinizantes Hereditárias do Sistema Nervoso Central , Catarata/congênito , Catarata/diagnóstico por imagem , Catarata/genética , Consanguinidade , Doenças Desmielinizantes Hereditárias do Sistema Nervoso Central/diagnóstico por imagem , Doenças Desmielinizantes Hereditárias do Sistema Nervoso Central/genética , Humanos , Linhagem
2.
Int Ophthalmol ; 40(9): 2159-2168, 2020 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-32358734

RESUMO

PURPOSE: Our aim was to highlight the presence and the frequency of posterior staphyloma (PS) in non-highly myopic retinitis pigmentosa (RP) patients and to study the relationship between PS and choroidal thickness (CT). METHODS: This was a retrospective case-control study of 77 eyes (39 patients) with RP, axial length inferior to 26 mm and clinically preserved macular area. All patients underwent fundus photography, A- and B-scan ocular ultrasonography, fundus autofluorescence (FAF) and swept source optical coherence tomography (SS-OCT). PS was defined by an outward bowing of the sclera on SS-OCT and B-scans. The relationship between the PS and SS-OCT layers thicknesses was determined. RESULTS: Over 77 RP eyes of 39 patients studied, a PS was identified in 17 eyes (22%) of nine patients. Fifteen eyes had a narrow macular staphyloma (NMS), and two eyes had a wide macular staphyloma (WMS). Mean age in this group was 34.2 years (range 19-53 years), mean axial length was 23.60 ± 0.61 mm and mean CT was 185.7 ± 71 um versus 259.7 um in eyes without PS. The staphyloma edges corresponded to area of outer retina loss on SS-OCT and were larger than the hyperautofluorescent ring on FAF. We found a significant association between PS and CT in our RP patients (p = 0.003). The mean CT was significantly thinner in PS eyes compared to eyes without staphyloma. There was no significant association between PS and with visual acuity, years of progression, retinal thickness nor FAF findings. CONCLUSIONS: PS was present in 22% of non-highly myopic eyes with RP. Narrow macular staphyloma was the most common type observed in our series. A marked thinning of the choroid was noted in PS eyes when compared to RP eyes without PS, as well as the outer retina degeneration.


Assuntos
Miopia Degenerativa , Retinose Pigmentar , Doenças da Esclera , Adulto , Estudos de Casos e Controles , Humanos , Pessoa de Meia-Idade , Miopia Degenerativa/complicações , Miopia Degenerativa/diagnóstico , Retinose Pigmentar/complicações , Retinose Pigmentar/diagnóstico , Estudos Retrospectivos , Tomografia de Coerência Óptica , Adulto Jovem
3.
Klin Monbl Augenheilkd ; 234(4): 478-482, 2017 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-28470643

RESUMO

Purpose To explore the association between the polymorphism (S/F) p.R102G in the complement component 3 (C3) gene and age-related macular degeneration (AMD) in a Tunisian population. Methods The molecular study was performed by polymerase chain reaction using sequence-specific primers (PCR-SSP) in 207 control subjects free of any eye disease (fundus normal) and 145 patients with exudative AMD. The CH50 activity and quantification of C3 and C4 have been made by technical home method and nephelometry, respectively. Results The prevalence of C3 GG genotype polymorphism was significantly higher in AMD patients compared to controls (OR: 2.41, IC 95% [1.90-3.05], p = 0.0007). However, no correlation was found between this allelic variant and the type of neovascularization. Similarly, there is no association between this polymorphism and the presence of functional and/or quantitative hypocomplementemia. Conclusions The C3 GG genotype of the gene could be a susceptibility factor for AMD in the Tunisian population. However, it does not seem to influence the clinical profile of the disease.


Assuntos
Complemento C3/genética , Predisposição Genética para Doença/epidemiologia , Predisposição Genética para Doença/genética , Degeneração Macular/epidemiologia , Degeneração Macular/genética , Polimorfismo de Nucleotídeo Único/genética , Idoso , Idoso de 80 Anos ou mais , Feminino , Estudos de Associação Genética , Marcadores Genéticos/genética , Humanos , Incidência , Degeneração Macular/diagnóstico , Masculino , Pessoa de Meia-Idade , Mutação/genética , Reprodutibilidade dos Testes , Medição de Risco/métodos , Sensibilidade e Especificidade , Tunísia/epidemiologia
4.
Tunis Med ; 94(1): 72-5, 2016 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-27525609

RESUMO

BACKGROUND: Chronic corneal ulcers still pose etiological and therapeutic challenge. They are serious complications and often associated with poor functional prognosis. AIM: We report the case of a patient with bilateral and chronic corneal ulcer revealing a rare   familial   form   of   bilateral   agenesis   of   the   lacrimal   gland. CASES REPORT: A 39-year-old man was referred to our department for bilateralchronic and sterile ulcer. The tear break-up time was less than one second and the schirmer test detected no wetting in 5 minutes. He mentioned that lacrimation had been totally absent even when crying as was the case of his brother and his sister. Orbital echography showed absence of lacrimal gland. Orbital magnetic resonance imaging revealed absence of both lacrimal glands. Our patients were treated with permanent topical artificial tears. We performed also permanent occlusion of lower lachrymal poncti to preserve basic tear flow. CONCLUSION: Congenital lacrimal gland agenesis is rare. We report, to ourknowledge, the first case of Tunisian family with three patients suffering from bilateral lacrimal gland agenesis and the first documented familiarly cases diagnosed in adulthood.


Assuntos
Anormalidades do Olho/genética , Aparelho Lacrimal/anormalidades , Adulto , Úlcera da Córnea/etiologia , Feminino , Humanos , Masculino
5.
Tunis Med ; 94(3): 216-20, 2016 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-27575506

RESUMO

BACKGROUND: Uncorrected refractive error has recently been identified as the leading cause of visual impairment in children worldwide. The prevalence of myopia is increasing. Determination of the epidemiology of myopia is important to develop screening strategy. PURPOSE: to estimate the prevalence and the degree of severity of myopia among primary schoolchildren in Tunisia and to assess its effect on school performance. METHODS: A random cluster design was used to recruit children from primary schools across urban and rural settings in Tunisia, during 2009 to 2012. A total of 6192 students aged 6 to 14 years old were enrolled. Students with visual acuity of 9/10 or worse underwent a complete ophthalmic examination, and cycloplegic autorefraction was used to determine refractive error. Myopia was defined as a spherical equivalent (SE) of - 0.50 dioptre (D) or worse. We also searched for a possible relation between uncorrected myopia and academic failure. RESULTS: The prevalence of myopia was 3.71%. Mean and SD of spherical equivalent was -3,10 ± 0,86 D. The myopia rate increased significantly with age (p=0.04), but was not significantly related to gender (p=0.823). There was no significant association between the student's area of residence and myopia (p=0.932). 85.21% of myopic students experienced unsatisfactory academic performances. CONCLUSION: The present study reveals the prevalence of myopia among schoolchildren in Tunisia. The high rate of academic failure in myopic schoolchildren emphasizes an unmet need for its screening and its correction.


Assuntos
Miopia/epidemiologia , Adolescente , Criança , Estudos Transversais , Escolaridade , Feminino , Humanos , Masculino , Prevalência , Índice de Gravidade de Doença , Tunísia/epidemiologia
6.
Tunis Med ; 94(4): 265-271, 2016 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-27704509

RESUMO

Background Maculopathy is a common complication of retinitis pigmentosa (RP), and compromise the visual acuity of RP patients even in the less advanced stages. Aim To report the morphological macular findings detected by spectral domain optical coherence tomography (SD-OCT) and to determine their prevalence in patients with retinitis pigmentosa (RP). Methods  SD-OCT scans from 100 patients (196 eyes) affected by RP were reviewed. Results We noted a normal macula appearance in 48.5%, macular edema in 14.5% and macular atrophy in 37%. Mean central macular thickness was 167.79 microns and we did not note any statistically significant correlation between visual acuity and foveal thickness. Visual acuity was statistically better in eyes with a larger number of hyper-reflective layers (p<0.001) and in eyes with photoreceptor inner/outer (IS/OS) segment junction distinct (p<0.001). We have identified three types of tomographic macular edema: a cystoids macular edema in 6.8%, a tractional edema in 8.2% and mixed edema in 1%. We identified two tomographic types of macular atrophy: a central- foveal atrophy in 34 eyes (11.6%) and diffuse atrophy in 38 eyes (12.9%). Epiretinal membrane was present in 24 eyes (8.2%). Conclusions The OCT contributes to the analysis of epidemiological and morphological of different macular involvement in RP. OCT has a prognostic value, which essentially depends on the morphology of the IS/OS line and number of hyper-reflective layers.


Assuntos
Macula Lutea/diagnóstico por imagem , Retinose Pigmentar/diagnóstico por imagem , Tomografia de Coerência Óptica/métodos , Adolescente , Adulto , Idoso , Criança , Estudos Transversais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Retinose Pigmentar/patologia , Acuidade Visual , Adulto Jovem
7.
Int Ophthalmol ; 35(5): 641-3, 2015 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-22986580

RESUMO

To report a case of bilateral granulomatous post-streptococcal syndrome uveitis in association with reactive arthritis as manifestation of post-streptococcal syndrome. To our knowledge, this could represent the first reported case in the literature. A 9-year-old girl, with no past ocular history, presented with a 5-day history of bilateral blurred vision, red eyes, photophobia and walking difficulties because of a right ankle pain. Ophthalmic examination disclosed a visual acuity limited to hand motion, mutton-fat keratic precipitates, anterior chamber cells and posterior synechiae in both eyes. Ocular pressure was normal. Physical examination showed a fever (38 °C), inflammatory ankle arthritis and scarlet fever (streptococcal lesion). Anti-streptococcal lysine O titer was 419 µ/ml. The patient was treated with topical steroids, cycloplegics, high-dose oral steroids and preventive course of penicillin with total improvement and no recurrence. Post-streptococcal syndrome should be considered in the etiology of acute bilateral granulomatous uveitis in children, and anti-streptococcal lysine O titer should be considered in serodiagnostic testing.


Assuntos
Artrite Reativa/microbiologia , Granuloma/microbiologia , Infecções Estreptocócicas , Uveíte Anterior/microbiologia , Tornozelo , Criança , Feminino , Humanos , Síndrome , Transtornos da Visão/microbiologia
8.
Tunis Med ; 92(12): 727-31, 2014 Dec.
Artigo em Francês | MEDLINE | ID: mdl-25879597

RESUMO

AIM: To study the epidemiological profile and the degree of severity of hyperopia in Tunisia primary school and to assess its effect on school performance. METHODS: A cross-sectional, descriptive survey was conducted among 6-14 aged Tunisian children attending primary urban and rural schools. A total of 6192 children were selected using stratified random cluster sampling. Cycloplegic refractive error was measured among all children with uncorrected visual acuity less than 9/10 or signs of astheniopia. Hyperopia was defined as spherical equivalent (SE) 2.0 diopters (D). We have also searched a possible relation between degree of severity of hyperopia and school performance. RESULTS: The prevalence of hyperopia was 2.61%. The spherical equivalent mean was + 3.73 ± 0.94 D. The mean age was 9.67 ± 0.44 years. This prevalence was 2.77% in boys and 2.47% in girls. 3.13% of students were living in urban areas and 1.42% in rural areas. The hyperopia rate decreased significantly with age (p = 0.021), but it was not significantly related to gender (p=0.54). The difference in the prevalence of hyperopia between urban and rural areas was not statistically significant (p = 0.067). There was no significant association between the degree of severity of hyperopia and school performance (p=0.41). CONCLUSION: In our study, the prevalence of hyperopia among schoolage children in Tunisia was 2.61%.The identification of this refractive error and its correction as soon as possible would ensure these children better visual comfort and a better education.


Assuntos
Hiperopia/epidemiologia , Estudantes/estatística & dados numéricos , Adolescente , Criança , Estudos Transversais , Feminino , Humanos , Masculino , Prevalência , Instituições Acadêmicas/estatística & dados numéricos , Tunísia/epidemiologia
9.
Eur J Ophthalmol ; 34(2): NP63-NP67, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-37899591

RESUMO

AIM: To report a rare case of unilateral central retinal artery occlusion (CRAO) following spinal surgery. METHODS: Observational case report. RESULTS: A 15-year-old female patient underwent scoliosis surgery under general anesthesia in a prone position, her head being supported by a horseshoe headrest for approximately four hours, with stable vitals and without significant blood loss during surgery. Upon waking up from general anesthesia, the patient immediately reported severe visual loss in her right eye (RE), associated to marked periocular ecchymosis and chemosis. Visual acuity was limited to light perception. Fundus examination showed normal optic disc appearance with diffuse retinal pallor and a macular cherry red spot. Optical coherence tomography (OCT) showed increased reflectivity in the inner retina, consistent with ischemic maculopathy in the RE. Brain and neck magnetic resonance imaging angiograms were unremarkable. Further investigations ruled out collagen vascular disease, Behcet disease, syphilis, sickle cell disease and hypercoagulable states. CONCLUSION: Central retinal artery occlusion is rarely observed following spinal surgery. The cause was presumed to be compression of the orbit by a horseshoe headrest in a prone position due to an accidental shift in position during surgery. This catastrophic complication, albeit rare, is usually irreversible and thus must be prevented. Proper positioning and vigilance by both the surgeon and the anesthesiologist during surgery are fundamental to ensure that the orbits are not under pressure.


Assuntos
Disco Óptico , Oclusão da Artéria Retiniana , Doenças Retinianas , Humanos , Feminino , Adolescente , Oclusão da Artéria Retiniana/diagnóstico , Oclusão da Artéria Retiniana/etiologia , Retina/patologia , Fundo de Olho , Doenças Retinianas/patologia , Estudos Observacionais como Assunto
10.
Eur J Ophthalmol ; 33(1): NP72-NP77, 2023 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-34325547

RESUMO

AIM: To report an uncommon case of optic disc and multiple choroidal metastases secondary to breast cancer, assessed with swept source optical coherence tomography (SS-OCT), fluorescein (FA), and infracyanine (ICGA) angiographies. METHODS: Observational case report. CASE PRESENTATION: A 40-year-old woman with history of left breast carcinoma presented with blurred vision in her right eye (RE). Her visual acuity was 1/20 in the RE and 10/10 in the left eye. Fundus examination of the RE showed a large yellowish elevation of the posterior pole and a particular whitish nodular papillary cluster protruding from the optic disc into the vitreous. Infrared imaging enhanced the papillary nodular infiltrates. Characteristic findings of choroidal metastasis were noted within the macular lesion on SS-OCT and ICGA. SS-OCT showed specific "lumpy bumpy" irregularity of the anterior surface of the choroid and elevated hyperreflective nodular lesions of the optic disc associated to peripapillary subretinal fluid. The papillary lesions appeared as a bunch of hypofluorescent dots on both FA and ICGA, and ultra-wide field FA was helpful clearly delimiting the large macular lesion. Besides, comprehensive imaging and especially ICGA could detect two asymptomatic choroidal metastases in a systematic assessment of the fellow eye. CONCLUSION: Optic disc metastases are extremely rare. Their diagnosis can be easily done on fundus examination when presenting with characteristic whitish cluster nodular infiltrates of the optic disc. However multimodal imaging remains very useful for the assessment of the local extension of the lesion and for diagnosing associated asymptomatic choroidal lesions gone unnoticed at the fundus examination.


Assuntos
Neoplasias da Mama , Disco Óptico , Humanos , Feminino , Adulto , Disco Óptico/patologia , Neoplasias da Mama/patologia , Corioide/patologia , Fundo de Olho , Imagem Multimodal , Tomografia de Coerência Óptica/métodos , Angiofluoresceinografia/métodos
11.
Eur J Ophthalmol ; 33(1): NP83-NP87, 2023 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-34387122

RESUMO

AIM: Our aim is to report a case with bilateral Waldenström's macroglobulinemia (WM) associated maculopathy, assessed with multimodal imaging including swept source optical coherence tomography (SS-OCT) and OCT-Angiography (OCT-A). METHODS: Observational case report. CASE PRESENTATION: A 61-year-old diabetic woman with history of treated WM currently in remission, presented with progressive bilateral visual loss. Best-corrected visual acuity was 20/100 in the right eye (RE) and 20/200 in the left eye (LE). Fundus examination showed bilateral microaneurysms and retinal punctuate hemorrhages and a large macular serous detachment in the LE. There was no retinal ischemia on FA nor macular dye leakage. SS-OCT showed a significant schisis-like intraretinal fluid accumulation in the RE and a large prominent macular detachment with significant subretinal fluid accumulation in the LE. Retinal and choriocapillaris vascular densities were normal on OCT-A. CONCLUSION: Our case illustrated characteristic multimodal imaging findings in WM associated maculopathy such as schisis-like intraretinal fluid accumulation and angiographically silent serous macular detachment. OCT-A could non-invasively analyze macular vascular densities layer-by-layer, without noticing any vascular anomaly.


Assuntos
Degeneração Macular , Descolamento Retiniano , Doenças Retinianas , Macroglobulinemia de Waldenstrom , Feminino , Humanos , Pessoa de Meia-Idade , Macroglobulinemia de Waldenstrom/complicações , Macroglobulinemia de Waldenstrom/diagnóstico , Doenças Retinianas/complicações , Descolamento Retiniano/diagnóstico , Degeneração Macular/complicações , Tomografia de Coerência Óptica , Imagem Multimodal , Angiofluoresceinografia/métodos
12.
Eur J Ophthalmol ; : 11206721231210755, 2023 Nov 01.
Artigo em Inglês | MEDLINE | ID: mdl-37915116

RESUMO

PURPOSE: To evaluate choroidal findings on multimodal imaging in eyes within pachychoroid spectrum diseases and to compare quantitative and qualitative choroidal features between non-neovascular (NNV-PDS) and neovascular (NV-PDS) pachychoroid diseases. METHODS: Retrospective cross-sectional study comparing between NV-PDS and NNV-PDS. All patients underwent multimodal imaging including infracyanine green angiography (IFCGA) and swept source optical coherence tomography (OCT) and angiography (OCT-A). The following parameters were analyzed: subfoveal choroidal thickness (SFCT), choroidal vascular index (CVI), presence of pachyvessels and choroidal vascular interconnections (CVIC), presence of choroidal neovascularization and choriocapillaris density. RESULTS: Of the 87 eyes included in the study, 63 eyes (73%) had NNV-PDS and 24 eyes (27%) had NV-PDS. Mean SFCT and CVI were significantly higher in NNV-PDS group (p = 0.01; p = 0.022). Pachyvessels were more diffusely distributed in NNV-PD group and more focally distributed in NV-PDS group (p = 0.029). CVIC were more frequently noted in NV-PDS group (p = 0.024). A higher CVI was associated to a thicker choroid (p < 0.001), with significant negative correlations between the presence of CVIC and both SFCT (p = 0.015) and CVI (p = 0.002). We also observed a lower choriocapillaris vascular density and higher number of choriocapillaris flow voids in eyes with NNV-PDS (p = 0.24; p = 0.61). CONCLUSION: NNV-PDS eyes had a significantly thicker SFCT, higher CVI and a lower rate of detected CVIC than eyes with NV-PDS. These highlighted choroidal vascular changes might lead to a better understanding of pachychoroid disease pathophysiology. More frequently observed in NV-PDS group, CVIC are believed to assess the development of vortex vein anastomoses as a remodelling process for vascular decongestion.

13.
Eur J Ophthalmol ; 33(4): 1706-1717, 2023 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-36617984

RESUMO

AIMS: The aims of this study were to analyze retinal and choroidal changes on optical coherence tomography (OCT) and OCT-Angiography (OCT-A) in Alzheimer's disease (AD) patients and compare them to other forms of major dementia. We also aimed to analyze the correlation between clinical severity of global cognitive deficiency assessed by the mini-mental state exam (MMSE) score and OCT/OCT-A parameters. METHODS: Retrospective cross-sectional evaluative study of AD, and age-and gender-matched patients with other dementias. Fundus examination, OCT and OCT-A were compared. RESULTS: Ninety-one eyes of AD patients and 53 eyes of patients with other dementias were included. Retinal deposits were found in 6.59% of AD cases. OCT highlighted the presence of hyperreflective deposits and localized areas of outer retina and ellipsoid zone disruption, respectively in 20.87% and 15.38% of AD cases. Hyperreflective foci were noted within inner retinal layers in 4.39% of AD cases. Quantitative analysis revealed a thicker nasal retinal nerve fiber layer (p = 0.001) and ganglion cell complex in superior (p = 0.011) and temporal quadrants (p = 0.009) in eyes of AD patients, compared to other dementias. OCT-A showed a significantly higher fractal dimension of both superficial and deep capillary plexus (p = 0.005), with lower choriocapillaris density (p = 0.003) in AD patients. CONCLUSIONS: Structural OCT could highlight the presence of hyperreflective deposits in AD, probably reflecting beta-amyloid deposits, associated to outer retinal disruptions. Quantitative OCT analysis showed structural differences between AD patients and other dementias, and combined OCT-A could identify microvascular changes in AD patients representing new potential differential diagnosis criteria.


Assuntos
Doença de Alzheimer , Disfunção Cognitiva , Humanos , Tomografia de Coerência Óptica/métodos , Estudos Retrospectivos , Doença de Alzheimer/diagnóstico , Estudos Transversais , Retina , Disfunção Cognitiva/diagnóstico , Angiografia , Angiofluoresceinografia/métodos , Vasos Retinianos
14.
Eur J Ophthalmol ; 32(1): 475-480, 2022 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-33339473

RESUMO

PURPOSE: To evaluate the risk of active choroidal neovascularization (CNV) in presence of deep irregular vascular network (IVN) in eyes with angioid streaks (AS). METHODS: Observational case series including three treatment-naive eyes with angioid streaks and IVN, without CNV. Patients were followed-up during 18 months with multimodal imaging including structural optical coherence tomography (OCT) and OCT Angiography (OCT-A) to detect possible neovascular complication. RESULTS: On OCT-A, IVN was detected as a peripapillary and/or macular high-flow lesion, filling the spaces between the angioid streaks in the outer retina slab. Repeated OCT-A could detect an active CNV emerging from the IVN, as a high-flow rich anastomotic vascular network with a perilesional dark halo. Patient was treated with intravitreal injections of Bevacizumab on a Pro Re Nata regimen, with a decreased CNV area and lower vascular density on control OCT-A. CONCLUSION: OCT-A shown to be helpful in detecting the presence of IVN in asymptomatic eyes with AS during a routine examination. In our series, the IVN seems to be predictor of active CNV, needing a close surveillance and frequent follow-up to allow early treatment upon CNV activation.


Assuntos
Estrias Angioides , Neovascularização de Coroide , Inibidores da Angiogênese/uso terapêutico , Estrias Angioides/complicações , Estrias Angioides/diagnóstico , Neovascularização de Coroide/diagnóstico , Neovascularização de Coroide/tratamento farmacológico , Neovascularização de Coroide/etiologia , Angiofluoresceinografia , Seguimentos , Humanos , Injeções Intravítreas , Retina , Tomografia de Coerência Óptica , Acuidade Visual
15.
Eur J Ophthalmol ; 32(3): NP1-NP4, 2022 May.
Artigo em Inglês | MEDLINE | ID: mdl-33356524

RESUMO

AIM: To report an uncommon case of aneurysmal type 1 neovascularization (polypoidal choroidal vasculopathy) secondary to high-myopic staphyloma in a Caucasian patient, assessed with multimodal imaging including swept source OCT-Angiography. METHODS: Observational case report. RESULTS: About 73-year-old Caucasian male patient with high myopia (axial length = 27.24 mm). Fundus examination showed a myopic conus and a deep orange-brownish nodular lesion at the edge of a deep haemorrhage and connected to a large choroidal vessel. ICGA showed a circular hyperfluorescent lesion in mid-phase, without any branching vascular network. OCT-Angiography could detect the aneurysmal lesion non-invasively as a small circular high-flow lesion in the outer retina slab, with a shadowing in the choriocapillaris slab. At the level of the aneurysmal lesion, structural OCT showed a high bilobed PED, without any subretinal fluid. A vascular flow was noted within the PED on cross-sectional OCT-A, confirming the vascular aneurysmal nature of this lesion. Additionally, swept source OCT highlighted the presence of an abrupt change in choroidal thickness, from 62 µm in the peripapillary area to 120 µm underneath the polypoidal lesion, with dilated choroidal vessels. CONCLUSION: To our knowledge, this is the first report of OCT-A findings in aneurysmal (polypoidal) dilation secondary to high-myopic staphyloma. We could demonstrate the usefulness of OCT-A detecting non-invasively the aneurysmal dilation and the usefulness of swept source OCT assessing the choroidal structure to better understand the pathophysiology of this uncommon finding.


Assuntos
Neovascularização de Coroide , Miopia , Doenças da Esclera , Idoso , Corioide/patologia , Neovascularização de Coroide/diagnóstico , Neovascularização de Coroide/etiologia , Neovascularização de Coroide/patologia , Estudos Transversais , Angiofluoresceinografia/métodos , Humanos , Masculino , Miopia/patologia , Tomografia de Coerência Óptica/métodos
16.
J Curr Ophthalmol ; 34(2): 260-263, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36147276

RESUMO

Purpose: To report a case of a bilateral complex uveitic glaucoma (UG) with pupillary block, rupture of the anterior lens capsule, and malignant glaucoma in a young high-myopic patient and to report anterior segment optical coherence tomography (AS-OCT) findings initially and following surgery. Methods: A 21-year-old high-myopic woman who had a history of anterior uveitis with extensive posterior synechiae, presented with acute bilateral ocular pain, redness, and blurred vision following bilateral Nd: YAG laser peripheral iridotomy (LPI). Results: Visual acuity was limited to light perception in both eyes (OU), with a flat anterior chamber (AC) and anterior luxation of lens fragments. Intraocular pressure (IOP) was over 60 mmHg OU. AS-OCT showed closed angles and hyperreflective heterogeneous material within the flat AC. The iris and lens fragments were plated against the corneal endothelium OU. We performed an urgent pars plana vitrectomy associated with lensectomy. It was uneventful in OU. Repeated AS-OCT revealed a deep AC, widely open angles, and aphakia. IOP was lowered to 9 mmHg and visual acuity improved to 5/10 in OU. Conclusion: Performing LPI might be harmful in the presence of UG with extensive posterior synechia, resulting in complex mechanism glaucoma with aqueous misdirection syndrome associated with a pupillary block due to anterior lens luxation, even in high-myopic eyes. Nd: YAG LPI should not be performed simultaneously in OU, especially in pathologic eyes, to prevent bilateral vision-threatening complications. AS-OCT was of great help, allowing easy and detailed ultrastructural assessment of the ACs, and iridocorneal angles before and after surgery.

17.
Eur J Ophthalmol ; 32(4): NP98-NP102, 2022 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-33736480

RESUMO

PURPOSE: To report multimodal imaging findings including optical coherence tomography angiography (OCT-A) of a patient presenting with a quiescent choroidal neovascularization (CNV) in one eye and an active CNV in the fellow eye, complicating retinitis pigmentosa (RP) linked to PRPH2 pathogenic variant, with follow-up and management of both eyes. METHODS: Observational case report. RESULTS: A 40-year-old female with history of autosomal dominant RP consulted for acute visual loss in her right eye (RE). Multimodal imaging including OCT-A confirmed the diagnosis of active type 2 CNV in the RE and highlighted an incidental asymptomatic non-exudative "quiescent" CNV in the left eye (LE). This complication was managed by intra-vitreal Bevacizumab injections in the RE and regular monitoring of the LE. Frequent follow-up could detect early CNV activation signs in LE allowing early treatment. Mutation analysis of PRPH2 exons identified a known heterozygous pathogenic missense variation c.646C>T, p.P216S in exon 2. CONCLUSION: Multimodal imaging and especially OCT-A can be of a great help in the diagnosis and the management of CNV complicating RP, even at the stage of quiescent CNV. In presence of neovascular complication, PRPH2 gene should be investigated because of its frequent macular involvement despite high phenotypic variability.


Assuntos
Neovascularização de Coroide , Retinose Pigmentar , Adulto , Bevacizumab/uso terapêutico , Neovascularização de Coroide/etiologia , Neovascularização de Coroide/genética , Feminino , Angiofluoresceinografia , Humanos , Retinose Pigmentar/complicações , Retinose Pigmentar/diagnóstico , Retinose Pigmentar/genética , Tomografia de Coerência Óptica/métodos
18.
Graefes Arch Clin Exp Ophthalmol ; 249(9): 1287-93, 2011 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-21484465

RESUMO

PURPOSE: To compare the 1-year functional and anatomical outcomes of intravitreal bevacizumab (IVB) and photodynamic therapy (PDT) in patients with myopic choroidal neovascularization (CNV). METHODS: Review of retrospectively collected data of 80 eyes in 80 patients with myopic CNV treated with standard PDT (n = 40) or IVB (1.25 mg/ 0.05 ml) (n = 40). Best-corrected visual acuity (BCVA) and central retinal thickness (CRT) measured with optical coherence tomography (OCT) were compared between the two groups at baseline, 3, 6 and 12 months. RESULTS: In the IVB group, mean BCVA was +0.9 ± 0.85 logMAR at baseline. Mean BCVA was significantly better at 3 and 6 months than baseline (p = .0095 and p = .008, respectively) but not at 12 months (p = .065). In the PDT group, mean BCVA was +0.88 ± 0.45 logMAR at baseline, and improved to +0.85 ± 0.62 logMAR at 3 months and to +0.86 ± 0.44 logMAR at 6 months, which was not significantly different from baseline. Mean BCVA then decreased to +0.9 ± 0.54 logMAR at 12 months (p = .85). Mean logMAR VA was significantly better in the IVB group than in the PDT group after 3 months (p = .0043), 6 months (p = .0001) and 12 months (p = .0168). Mean CRT was significantly lower in IVB group than in PDT group at 3, 6 and 12 months (p = .008, p = .038, p = .040, respectively). Chorioretinal atrophy developed in six eyes (15%) treated with IVB and in 24 eyes (60%) treated with PDT at 12 months (p = 3.2 × 10(-5)). CONCLUSIONS: Over a 12-month period, intravitreal bevacizumab seems to be superior to photodynamic therapy in controlling myopic CNV in a North-African population.


Assuntos
Anticorpos Monoclonais Humanizados/administração & dosagem , Neovascularização de Coroide/tratamento farmacológico , Miopia Degenerativa/tratamento farmacológico , Fotoquimioterapia/métodos , Porfirinas/administração & dosagem , Adulto , Idoso , Inibidores da Angiogênese/administração & dosagem , Bevacizumab , Neovascularização de Coroide/patologia , Feminino , Seguimentos , Humanos , Injeções Intravítreas , Masculino , Pessoa de Meia-Idade , Miopia Degenerativa/patologia , Fármacos Fotossensibilizantes/administração & dosagem , Retratamento , Estudos Retrospectivos , Tomografia de Coerência Óptica , Resultado do Tratamento , Tunísia , Verteporfina
19.
Adv Ther ; 38(3): 1483-1513, 2021 03.
Artigo em Inglês | MEDLINE | ID: mdl-33502688

RESUMO

INTRODUCTION: Micro- and macrovascular complications of diabetes are leading morbidities in the world population. They are responsible not only for increased mortality but also severe disabilities, which jeopardize quality of life (e.g., blindness, walking limitations, and renal failure requiring dialysis). The new antidiabetic agents (e.g., glucagon-like peptide 1 receptor agonists and sodium-glucose cotransporter inhibitors) are increasingly recognized as breakthrough agents in the treatment of diabetes and prevention of diabetic complications. However, drugs effective in preventing and treating diabetic disabilities are still needed and sulodexide could be one of those able to address the unmet clinical needs of the new antidiabetic agents. METHODS: We searched MEDLINE, EMBASE, the Cochrane Central Register of Controlled Trials, and the World Health Organization (WHO) International Clinical Trials Registry Platform Search Portal. We also manually searched potentially relevant journals, conference proceedings, and journal supplements. Any study monitoring any effect of sulodexide in subjects with diabetes, in relation to renal, vascular, and ocular complication, was considered. Treatment effects were estimated using standardized mean differences (SMDs), mean differences (MDs), and risk ratios (RRs), as appropriate. We calculated 95% confidence interval (CIs) and heterogeneity (Q, tau, and I2). RESULTS: The search found 45 studies with 2817 participants (mean age 57 years; 63% male). The 26 randomized controlled studies included 2074 participants (mean age 58.8 years; 66% male). Sulodexide reduced the impact of diabetic retinopathy; increased the pain-free and maximal walking distance in peripheral arterial disease; accelerated the healing of diabetes-associated trophic ulcers; and decreased the rate of albumin excretion in subjects with nephropathy. The risk of adverse events (AEs) was not different between sulodexide and controls. CONCLUSION: Sulodexide has a beneficial effect on the ocular, peripheral arterial disease, trophic ulcers, and renal complications of diabetes without increasing the risk of AEs.


Assuntos
Diabetes Mellitus , Qualidade de Vida , Feminino , Glicosaminoglicanos/uso terapêutico , Humanos , Hipoglicemiantes/uso terapêutico , Masculino , Pessoa de Meia-Idade
20.
Tunis Med ; 99(2): 221-224, 2021 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-33899190

RESUMO

AIM: To study the central corneal thickness of a Tunisian population and determine the influence of age, gender, axial length and refractive error on central corneal thickness (CCT) values. METHODS: An observational, cross-sectional study was conducted on 608 eyes of consecutive Tunisian patients without ophthalmic disease. Corneal tomography (Oculus Pentacam, USA) and a complete eye examination were performed on all patients. The relationship between the central corneal thickness values and variables of age, refractive error, axial length and gender was assessed. RESULTS: The mean central corneal thickness was 522±37.17µm (range 461 to 655 µm). No statistical association was found between central corneal thickness values and variables of age, refractive error, axial length and gender. CONCLUSIONS: The normal CCT value in the Tunisian population was of 522±37.17 µm. We have analyzed, for the first time, normal central corneal thickness values of a healthy Tunisian population.


Assuntos
Córnea , Córnea/diagnóstico por imagem , Estudos Transversais , Humanos , Valores de Referência
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