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1.
Artigo em Inglês | MEDLINE | ID: mdl-38909893

RESUMO

INTRODUCTION: A survey conducted by the European Board of Ophthalmology (EBO) revealed significant differences in the surgical training of the ophthalmology residents in Europe, including a disparity between the sexes and a variation in the experience on cataract surgery (CC) between them. This study is about the Spanish sub-cohort of the survey, and its objective is to present and analyse the peculiarities of ophthalmology training in Spain within the European context, as well as discussing ways to harmonise and improve that training throughout the EU. METHODS: We analyse data of the Spanish participants in the EBO exams, defining subgroups by the Autonomous Communities existing in Spain. RESULTS: 93 of 135 requested participants (68.9%) responded. A 60.2% passed the EBO exam between 2021-2022, being mostly women (65.59%) aged 31 years old on average. The 91.4% were right-handed, coming from 13 of the 17 Spanish autonomous communities, although mostly from the Community of Valencia, Madrid and Catalonia. Respectively, 16.1%, 3.2% and 8.7% of the respondents said they have completed 10 or more training sessions on animal eyes, synthetic eyes and through the virtual reality simulator. This training was correlated with greater self-confidence in the management of a posterior capsular tear during surgery (p .025). All respondents manifested to have already performed stages of the CC. The average number of operations reported was 181.6 with regional disparities. A significant difference is observed between the sexes against women (-28.3%, p 0.03). DISCUSSION: Ophthalmologists in Spain, much more than other European countries, have greater opportunities for surgical training, with surgical procedures during the residency, that nearly triples those made by the others. Spanish women refer, like their European colleagues, to be in disadvantage in learning opportunities about cataract surgery. The Simulation Based Medical Education (SBME) allows to respond to the training deficit and complements the training on the patient. Although we demonstrate a significant correlation between the number of procedures carried out and self-confidence to operate simple cases, the SBME would be a complementary tool in self-confidence in front of a complication like capsular rupture. CONCLUSION: Spain massively adopts the model named by us "surgery for all", despite the underrepresentation of women in this area, emphasising a need for cultural change that the SBME could facilitate.

5.
J Fr Ophtalmol ; 45(4): 413-422, 2022 Apr.
Artigo em Francês | MEDLINE | ID: mdl-35109988

RESUMO

OBJECTIVE: To evaluate diagnostic and therapeutic practices and then establish a consensus on the management of ocular toxoplasmosis in France through a Delphi study. MATERIALS AND METHODS: Twenty-three French experts in ocular toxoplasmosis were invited to respond to a modified Delphi study conducted online, in the form of two questionnaires, in an attempt to establish a consensus on the diagnosis and management of this pathology. The threshold for identical responses to reach consensus was set at 70 %. RESULTS: The responses of 19 experts out of the 23 selected were obtained on the first questionnaire and 16 experts on the second. The main elements agreed upon by the experts were to treat patients with a decrease in visual acuity or an infectious focus within the posterior pole, to treat peripheral lesions only in the presence of significant inflammation, the prescription of first-line treatment with pyrimethamine-azithromycin, the use of corticosteroid therapy after a period of 24 to 48hours, the prophylaxis of frequent recurrences (more than 2 episodes per year) with trimethoprim-sulfamethoxazole as well as the implementation of prophylactic treatment of recurrences in immunocompromised patients. On the other hand, no consensus emerged with regard to the examinations to be carried out for the etiological diagnosis (anterior chamber paracentesis, fluorescein angiography, serology, etc.), second-line treatment (in the case of failure of first-line treatment), or treatment of peripheral foci. CONCLUSION: This study lays the foundations for possible randomized scientific studies to be conducted to clarify the management of ocular toxoplasmosis, on the one hand to confirm consensual clinical practices and on the other hand to guide practices for which no formal consensus has been demonstrated.


Assuntos
Toxoplasmose Ocular , Azitromicina/uso terapêutico , Técnica Delphi , Humanos , Recidiva , Toxoplasmose Ocular/diagnóstico , Toxoplasmose Ocular/epidemiologia , Toxoplasmose Ocular/terapia , Combinação Trimetoprima e Sulfametoxazol/uso terapêutico
6.
J Fr Ophtalmol ; 45(1): 104-118, 2022 Jan.
Artigo em Francês | MEDLINE | ID: mdl-34836702

RESUMO

For over 10 years, the description of the retinal microvascular network has benefited from the development of new imaging techniques. Automated retinal image analysis software, as well as OCT angiography (OCT-A), are able to highlight subtle, early changes in the retinal vascular network thanks to a large amount of microvascular quantitative data. The challenge of current research is to demonstrate the association between these microvascular changes, the systemic vascular aging process, and cerebrovascular and cardiovascular disease. Indeed, a pathophysiological continuum exists between retinal microvascular changes and systemic vascular diseases. In the Montrachet study, we found that a suboptimal retinal vascular network, as identified by the Singapore I Vessel Assessment (SIVA) software, was significantly associated with treated diabetes and an increased risk of cardiovascular mortality. In addition, we supplemented our research on the retinal vascular network with the use of OCT-A. In the EYE-MI study, we showed the potential role of quantitative characterization of the retinal microvascular network by OCT-A in order to assess the cardiovascular risk profile of patients with a history of myocardial infarction. A high AHA (American Heart Association) risk score was associated with low retinal vascular density independently of hemodynamic changes. Thus, a better understanding of the association between the retinal microvasculature and macrovascular disease might make its use conceivable for early identification of at-risk patients and to suggest a personalized program of preventative care. The retinal vascular network could therefore represent an indicator of systemic vascular disease as well as an interesting predictive biomarker for vascular events.


Assuntos
Infarto do Miocárdio , Vasos Retinianos , Envelhecimento , Humanos , Microvasos , Retina , Vasos Retinianos/diagnóstico por imagem
7.
J Fr Ophtalmol ; 44(1): 1-12, 2021 Jan.
Artigo em Francês | MEDLINE | ID: mdl-33168221

RESUMO

Optimizing treatment regimens for anti-angiogenic drugs is now a major issue in the management of patients with exudative AMD. The evolution of these approaches has led retinologists to favor so-called proactive administration regimens, such as Treat-and-Extend (T&E), which make it possible to anticipate recurrence and to plan intravitreal injections of anti-angiogenic drugs in advance. Nevertheless, a real need to standardize the application of this regimen has been identified. This article proposes a consensus based on the Delphi methodology, which might provide a guide for ophthalmologists to manage patients with exudative AMD using the T&E protocol. While some aspects remain debated to date, this article provides elements to guide the implementation of T&E. The experts recommend that a loading dose of 3 monthly injections should be administered before starting T&E. They also recommend adjusting the reinjection intervals by±2 weeks in a standardized fashion. The intervals are then decreased in the presence of anatomical and/or functional deterioration, maintained when the interval of recurrence is identified, and increased when anatomical and/or functional improvement is observed. A maximum interval between 3 and 4 months is recommended by the experts, with maintenance of the maximum interval for 1 year before considering a possible exit from the T&E protocol. In the event of a significant decrease in visual acuity related to the disease along with significant anatomical degradation, it is recommended to restart monthly injections. In the case of bilateral disease, when synchronized timing of injections for both eyes is desired, the experts recommend using the shorter of the two intervals.


Assuntos
Degeneração Macular , Degeneração Macular Exsudativa , Inibidores da Angiogênese/uso terapêutico , Consenso , Humanos , Injeções Intravítreas , Degeneração Macular/tratamento farmacológico , Ranibizumab/uso terapêutico , Receptores de Fatores de Crescimento do Endotélio Vascular/uso terapêutico , Estudos Retrospectivos , Resultado do Tratamento , Degeneração Macular Exsudativa/tratamento farmacológico
8.
J Fr Ophtalmol ; 43(8): 761-769, 2020 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-32622633

RESUMO

INTRODUCTION: To describe the one-year functional outcomes of treatment-naïve neovascular age-related macular degeneration (nAMD) treated with anti-VEGF agents at the Dijon University Hospital Ophthalmology Department. METHODS: Real-life interventional study including all treatment-naïve nAMD patients from January 2016 to December 2018 in the Ophthalmology Department of Dijon University Hospital. Data were retrospectively collected from the Fight Retinal Blindness! (FRB!) registry. At baseline, medical history, visual acuity (VA), type of lesion and activity on angiography and optical coherence tomography (OCT), and treatment were recorded. On follow-up, VA, lesion activity and treatment were recorded. RESULTS: Three-hundred twenty eyes of 259 patients were included, of which 65.6% were female and with a mean age of 80.1±11.1 years. Mean VA (standard deviation, SD) at baseline was 53.2 ETDRS letters (25.3). All patients received anti-VEGF injections, of which 164 eyes (51.2%), 152 eyes (47.5%) and 4 eyes (1.2%) were treated with aflibercept, ranibizumab and bevacizumab, respectively. A total of 198 eyes of 169 patients completed the 12-month follow-up, with a median (first quartile, third quartile) of 12 visits (10, 13). At one year (n=198), the overall mean VA gain [95% CI] was +3.3 ETDRS letters [0.7, 5.9] and 173 (87.4%) of the treated eyes did not lose 15 or more letters. We found no statistically significant difference in mean VA gain between aflibercept and ranibizumab. CONCLUSION: This real-world study confirmed the efficacy of anti-VEGF agents in nAMD and the feasibility of analyzing data in an international registry.


Assuntos
Inibidores da Angiogênese/administração & dosagem , Degeneração Macular/tratamento farmacológico , Idoso , Idoso de 80 Anos ou mais , Inibidores da Angiogênese/efeitos adversos , Bevacizumab/administração & dosagem , Bevacizumab/efeitos adversos , Cegueira/tratamento farmacológico , Cegueira/epidemiologia , Feminino , França/epidemiologia , Humanos , Injeções Intravítreas , Degeneração Macular/epidemiologia , Masculino , Neovascularização Patológica/tratamento farmacológico , Neovascularização Patológica/epidemiologia , Ranibizumab/administração & dosagem , Ranibizumab/efeitos adversos , Receptores de Fatores de Crescimento do Endotélio Vascular/administração & dosagem , Proteínas Recombinantes de Fusão/administração & dosagem , Proteínas Recombinantes de Fusão/efeitos adversos , Sistema de Registros , Estudos Retrospectivos , Fatores de Tempo , Resultado do Tratamento , Fator A de Crescimento do Endotélio Vascular/antagonistas & inibidores , Fator A de Crescimento do Endotélio Vascular/imunologia
9.
J Fr Ophtalmol ; 43(7): 618-625, 2020 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-32473741

RESUMO

PURPOSE: To evaluate the efficacy of intravitreal anti-vascular endothelial growth factor (anti-VEGF) injections (IVT) in diabetic macular edema (DME) in real-life practice using the Save Sight Registries (SSR). MATERIAL AND METHODS: We conducted an observational, single-centre, retrospective study in the department of ophthalmology of the Dijon University Hospital. We included treatment-naive patients who presented with DME between January 2016 and December 2017. Demographic and clinical data, follow-up visits, and treatments administered were entered into the SSR, an international online ophthalmic registry. Primary endpoints were the change in best-corrected visual acuity (BCVA) and central subfield thickness (CST) from baseline to 12 and 24 months. RESULTS: Fifty-eight eyes of 43 patients with a mean [standard deviation (SD)] age of 67.1 [9.5] years were included. Forty-one eyes completed 12 months of follow-up, and 17 eyes completed 24 months of follow up. Median [SD] baseline BCVA was 56.1 [22.9] ETDRS letters and the median [95% confidence interval (95% CI)] baseline CST was 447.9 [161.0] micrometers (µm). Median [95% CI] improvement in BCVA from baseline to months 12 and 24 were respectively, +5.6 [+0.5; +10.7] ETDRS letters and +7.7 [-2.8; +18.2] ETDRS letters. The median [95% CI] decrease in CST from baseline to months 12 and 24 were respectively, -110.9 [-154.5; -67.3] µm and -125.5 [-198.0; -53.0] µm. CONCLUSION: Our clinical practice can be evaluated easily with the SSR system. In real life, anti-VEGF IVT are an effective treatment for DME, which result in improved BCVA and decreased CST.


Assuntos
Bevacizumab/administração & dosagem , Retinopatia Diabética/tratamento farmacológico , Edema Macular/tratamento farmacológico , Centros Médicos Acadêmicos , Idoso , Inibidores da Angiogênese/administração & dosagem , Inibidores da Angiogênese/efeitos adversos , Bevacizumab/efeitos adversos , Retinopatia Diabética/epidemiologia , Feminino , Seguimentos , França/epidemiologia , Humanos , Injeções Intravítreas , Edema Macular/epidemiologia , Masculino , Pessoa de Meia-Idade , Padrões de Prática Médica/estatística & dados numéricos , Sistema de Registros , Estudos Retrospectivos , Resultado do Tratamento , Fator A de Crescimento do Endotélio Vascular/antagonistas & inibidores , Fator A de Crescimento do Endotélio Vascular/imunologia
10.
J Fr Ophtalmol ; 43(5): 411-416, 2020 May.
Artigo em Inglês | MEDLINE | ID: mdl-32143821

RESUMO

PURPOSE: To evaluate the Spot Vision Screener (SVS) compared with the orthoptic examination for detection of amblyopia risk factors in preschools. METHODS: This prospective study included children with a visual screening organized by the department of "le" (PMI) in Côte d'Or (Burgundy, France), between June 2017 and April 2018. All children were evaluated with the SVS followed by a clinical orthoptic examination. Results with the SVS were compared with those obtained by clinical orthoptic examination. RESULTS: A total of 1236 subjects were included in the study from 100 preschools. The mean age of the children was 3.6±0.7 years, and 627 were female (50.7%). The orthoptic examination detected 308 (24.9%) children with subnormal visual acuity for age in one eye or both. In children with a history of prematurity, the orthoptic examination was more frequently abnormal (P=0.002), which was not seen with the SVS (P=0.050). The SVS screened 20 (1.6%) children with strabismus, while 40 (3.2%) were detected by orthoptic examination. At the end of the screening, the SVS detected 182 (14.7%) suspect patients while 311 (25.1%) suspect patients were detected after the orthoptic examination. Comparing SVS with orthoptic examination, agreement was fair (κ=0.4). CONCLUSION: The SVS can be a useful device for visual screening, but agreement with the orthoptic examination was only fair. The Spot vision screener should be used in conjunction with a clinical orthoptic examination.


Assuntos
Ortóptica/métodos , Escolas Maternais , Seleção Visual/métodos , Ambliopia/diagnóstico , Ambliopia/epidemiologia , Pré-Escolar , Feminino , França/epidemiologia , Humanos , Masculino , Programas de Rastreamento/métodos , Exame Físico , Estudos Prospectivos , Refração Ocular/fisiologia , Fatores de Risco , Serviços de Saúde Escolar/estatística & dados numéricos , Escolas Maternais/estatística & dados numéricos , Estrabismo/diagnóstico , Estrabismo/epidemiologia , Acuidade Visual
12.
J Fr Ophtalmol ; 43(3): 216-221, 2020 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-31973975

RESUMO

INTRODUCTION: Quantitative measurements of retinal microvasculature by optical coherence tomography angiography (OCT-A) have been used to assess cardiovascular risk profile. However, to date, there are no studies focusing on OCT-A imaging in the setting of the altered hemodynamic status found in high-risk cardiovascular patients. METHODS: To determine the potential association between retinal vascular density on OCT-A and a comprehensive battery of hemodynamic variables in patients with myocardial infarction (MI) using data from the acute phase and at 3 months follow-up after cardiac rehabilitation. This prospective longitudinal study included patients who presented with MI in the cardiology intensive care unit at Dijon University Hospital. Main outcomes and measurements were retinal vessel density on OCT-A, hemodynamic status based on left ventricular ejection fraction (LVEF), and indexed cardiac output during the acute phase of myocardial infarction and at 3 months follow-up. RESULTS: Overall, 30 patients were included in this pilot study. The median (IQR) age was 64 years (55-71) with 87% men. At admission, the mean (SD) LVEF was 53% (11), and the mean indexed cardiac output was 2.70 (0.83) L/min/m2. On OCT-A, the mean inner retinal vascular density was 19.09 (2.80) mm-1. No significant association was found between retinal vascular density and hemodynamic variables. CONCLUSION: We found no significant association between retinal vascular density on OCT-A and hemodynamic variables in the acute phase of a myocardial infarction or after 3 months of cardiac rehabilitation. Therefore, OCT-A findings do not seem to be influenced by the hemodynamic changes associated with myocardial infarction.


Assuntos
Coração/fisiologia , Hemodinâmica/fisiologia , Infarto do Miocárdio/fisiopatologia , Vasos Retinianos/diagnóstico por imagem , Vasos Retinianos/patologia , Idoso , Contagem de Células , Feminino , Angiofluoresceinografia , Humanos , Estudos Longitudinais , Masculino , Pessoa de Meia-Idade , Infarto do Miocárdio/complicações , Infarto do Miocárdio/diagnóstico por imagem , Infarto do Miocárdio/patologia , Projetos Piloto , Estudos Prospectivos , Volume Sistólico/fisiologia , Tomografia de Coerência Óptica
13.
J Fr Ophtalmol ; 42(7): 762-777, 2019 Sep.
Artigo em Francês | MEDLINE | ID: mdl-31174880

RESUMO

PURPOSE: To update the medical literature on the diagnostic and therapeutic approach to polypoidal choroidal vasculopathy (PCV) and to propose a treatment algorithm in agreement with French market approval, supported by the France Macula Federation (FFM). METHODS: Literature review and expert opinion. RESULTS: The diagnosis of PCV is based on multimodal imaging, including indocyanine green angiography (ICGA), which is considered the gold standard for the diagnosis of PCV. Regarding the therapeutic management of PCV, the FFM recommends treating PCV first-line either by monotherapy with intra-vitreal anti-vascular endothelial growth factor (anti-VEGF) injections, or by a combined treatment of photodynamic therapy (PDT) with Verteporfin and intra-vitreal anti-VEGF injections, depending on the location of the PCV.


Assuntos
Neovascularização de Coroide/diagnóstico , Neovascularização de Coroide/terapia , Oftalmologia/normas , Pólipos/diagnóstico , Pólipos/terapia , Inibidores da Angiogênese/uso terapêutico , Doenças da Coroide/complicações , Doenças da Coroide/diagnóstico , Doenças da Coroide/terapia , Neovascularização de Coroide/complicações , Técnicas de Diagnóstico Oftalmológico/normas , Angiofluoresceinografia/métodos , Angiofluoresceinografia/normas , França , Humanos , Verde de Indocianina , Oftalmologia/organização & administração , Fotoquimioterapia/métodos , Fotoquimioterapia/normas , Fármacos Fotossensibilizantes/uso terapêutico , Pólipos/complicações , Sociedades Médicas/normas , Tomografia de Coerência Óptica/métodos , Tomografia de Coerência Óptica/normas
14.
J Fr Ophtalmol ; 42(4): 368-374, 2019 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-30898370

RESUMO

PURPOSE: To describe the visual results and postoperative complications of congenital cataract surgeries performed between 2005 and 2016. METHODS: A retrospective consecutive case series of congenital cataract surgeries was carried out at the Dijon University Hospital in France. Intraocular lens implantation was primary or secondary according to age. Pre- and post-operative assessment was performed through ophthalmologic consultations with orthoptic measurements. Visual function and adverse events were recorded. RESULTS: Fifty-six consecutive procedures were evaluated in 37 infants. Overall, 26.8% of patients had unilateral cataracts, and 73.2% had bilateral cataracts. Median age at surgery was 1.0 years [IQR (interquartile range): 0.3-5.2] and 2.7 years [IQR: 0.4-9.5] for unilateral and bilateral cataracts, respectively. Median best-corrected visual acuity (BCVA) at the last follow-up was 0.5logMAR [IQR: 0.2-0.8] and 0.1logMAR [IQR: 0.0-0.8] for the unilateral and bilateral group, respectively. Posterior capsule opacification (PCO) was the primary postoperative complication: 60.0% in unilateral cataract and 46.3% in bilateral cataracts (P=0.019). Median follow-up was 2.0 years [IQR: 1.0-5.0]. CONCLUSION: Congenital cataract surgery appears to be safe and effective when combined with early, conscientious amblyopia treatment. Bilateral congenital cataracts had better visual outcome than unilateral cataract.


Assuntos
Extração de Catarata , Catarata/congênito , Complicações Pós-Operatórias/epidemiologia , Acuidade Visual/fisiologia , Catarata/complicações , Catarata/epidemiologia , Catarata/terapia , Extração de Catarata/efeitos adversos , Extração de Catarata/reabilitação , Extração de Catarata/estatística & dados numéricos , Pré-Escolar , Feminino , França/epidemiologia , Humanos , Lactente , Implante de Lente Intraocular/efeitos adversos , Implante de Lente Intraocular/métodos , Implante de Lente Intraocular/estatística & dados numéricos , Lentes Intraoculares/efeitos adversos , Masculino , Complicações Pós-Operatórias/etiologia , Estudos Retrospectivos , Resultado do Tratamento
17.
J Fr Ophtalmol ; 39(8): 668-674, 2016 Oct.
Artigo em Francês | MEDLINE | ID: mdl-27609025

RESUMO

PURPOSE: The goal of this study was to evaluate five year functional and anatomical outcomes of wet AMD patients treated with ranibizumab according to a pro re nata (PRN) regimen in real-life practice. METHODS: A retrospective, multicentric chart review of 201 eyes of 201 patients who underwent their first ranibizumab intravitreal injection (IVT) between January 1, 2007 and December 31, 2008 was performed. Best-corrected visual acuity (BCVA), central macular thickness (CMT) on SD-OCT, number of IVT and follow-up visits were collected at baseline and during the entire follow-up period of 5 years. RESULTS: Mean BCVA at baseline was 52.3±16.5 letters. Mean BCVA change from baseline was respectively +2.8, +2.5, +1.8, -0.6 at 1, 2, 3, 4 years of follow-up. At year 5, 43% of eyes had a stable or improved letter score (≥0 letter gain), whereas 29% declined by 15 letters or more, with an overall significant mean decline of 2.8 letters (P<0.05). No correlation was observed between final visual outcome and age, baseline BCVA, type of neovascularization, naive status, number of IVT or number of follow-up visits. On SD-OCT, mean CMT was 293±96µm at baseline and was significantly reduced compared to baseline at each year end-point (P<0.005). The mean number of IVT was 15±10.4 at year 5, with 55% of eyes still being under active treatment. CONCLUSION: PRN ranibizumab in real-life practice improved or stabilized visual acuity over 4 years. During the 5th year, progressive decline of visual acuity was observed.


Assuntos
Inibidores da Angiogênese/administração & dosagem , Ranibizumab/administração & dosagem , Acuidade Visual , Degeneração Macular Exsudativa/tratamento farmacológico , Degeneração Macular Exsudativa/patologia , Idoso , Idoso de 80 Anos ou mais , Inibidores da Angiogênese/efeitos adversos , Feminino , Fundo de Olho , Humanos , Injeções Intravítreas , Masculino , Padrões de Prática Médica , Ranibizumab/efeitos adversos , Estudos Retrospectivos , Resultado do Tratamento , Acuidade Visual/efeitos dos fármacos , Degeneração Macular Exsudativa/diagnóstico por imagem , Degeneração Macular Exsudativa/fisiopatologia
18.
J Fr Ophtalmol ; 39(2): 164-70, 2016 Feb.
Artigo em Francês | MEDLINE | ID: mdl-26868534

RESUMO

INTRODUCTION: Cat scratch disease is a pleiomorphic condition, sometimes with isolated ophthalmic involvement. We report the clinical observations of seven cases with ophthalmologic manifestations of cat scratch disease. OBSERVATIONS: There were seven patients, with a median age of 52 years, of whom five were women and three had unilateral involvement. Six exhibited Leber's stellate neuroretinitis, an incomplete syndrome in two cases, and one associated with chorioretinal foci. One patient had isolated retinal infiltrates. The diagnosis of cat scratch disease was confirmed by Bartonella henselae serology, positive in all cases. All patients received treatment with doxycycline. Ocular complications (with optic atrophy and macular retinal pigment epithelial changes) were noted in five cases. DISCUSSION: Ocular bartonellosis is an atypical clinical form. It requires a directed ancillary work-up with serology or PCR, which has the peculiarity of being highly specific if not very sensitive. Treatment is above all preventive. Antibiotics may be initiated. CONCLUSION: Cat scratch disease must be excluded in the work-up of posterior uveitis.


Assuntos
Doença da Arranhadura de Gato/diagnóstico , Infecções Oculares Bacterianas/diagnóstico , Retinite/diagnóstico , Adulto , Idoso , Animais , Bartonella henselae/isolamento & purificação , Doença da Arranhadura de Gato/complicações , Gatos , Estudos de Coortes , Infecções Oculares Bacterianas/microbiologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Papiledema/diagnóstico , Papiledema/microbiologia , Papiledema/patologia , Retinite/microbiologia
19.
Am J Med Genet A ; 167(7): 1587-92, 2015 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-25899569

RESUMO

Mowat-Wilson syndrome (MWS) is a rare genetic syndrome characterized by a specific facial gestalt, intellectual deficiency, Hirschsprung disease and multiple congenital anomalies. Heterozygous mutations or deletions in the zinc finger E-box-binding homeobox2 gene (ZEB2) cause MWS. ZEB2 encodes for Smad-interacting protein 1, a transcriptional co-repressor involved in TGF-beta and BMP pathways and is strongly expressed in early stages of development in mice. Eye abnormalities have rarely been described in patients with this syndrome. Herein, we describe four patients (two males and two females; mean age 7 years) with MWS and eye malformations. Ocular anomalies included, iris/retinal colobomas, atrophy or absence of the optic nerve, hyphema, and deep refraction troubles, sometimes with severe visual consequences. All eye malformations were asymmetric and often unilateral and all eye segments were affected, similarly to the nine MWS cases with ophthalmological malformations previously reported (iris/chorioretinal/optic disc coloboma, optic nerve atrophy, retinal epithelium atrophy, cataract, and korectopia). In human embryo, ZEB2 is expressed in lens and neural retina. Using the present report and data from the literature, we set out to determine whether or not the presence of eye manifestations could be due to specific type or location of mutations. We concluded that the presence of eye malformations, although a rare feature in MWS, should be considered as a part of the clinical spectrum of the condition.


Assuntos
Olho/patologia , Doença de Hirschsprung/genética , Doença de Hirschsprung/patologia , Proteínas de Homeodomínio/genética , Deficiência Intelectual/genética , Deficiência Intelectual/patologia , Microcefalia/genética , Microcefalia/patologia , Proteínas Repressoras/genética , Adolescente , Atrofia/patologia , Catarata/patologia , Pré-Escolar , Coloboma/patologia , Fácies , Feminino , Humanos , Masculino , Mutação/genética , Nervo Óptico/patologia , Epitélio Pigmentado da Retina/patologia , Homeobox 2 de Ligação a E-box com Dedos de Zinco
20.
J Fr Ophtalmol ; 38(4): 357-64, 2015 Apr.
Artigo em Francês | MEDLINE | ID: mdl-25819535

RESUMO

BACKGROUND: Optical coherence tomography has significantly changed the approach to vitreomacular diseases, including macular holes (MH). OCT provides information on differential diagnoses (lamellar hole, pseudo-hole), the MH size, the status of the vitreous, and the status of the various retinal layers. The evolution of diagnostic tools and treatment justifies the need for an update of the current classification of vitreomacular diseases. METHOD: A group of retina specialists met several times to discuss the international classification, recently published by The International Vitreomacular Traction Study Group, focusing on vitreomacular adhesion (VMA), vitreomacular traction (VMT) and MH. It was compared to the classification currently used in France, based on the ophthalmoscopic system of Gass, then further delineated by Gaudric's OCT studies, in order to suggest a French adaptation to the international classification. RESULTS: An adapted classification for clinical use in France and in connection with the international classification is proposed. VMA are classified as an "associated" or "isolated" VMA respectively with or without macular disease. MH are distinguished as "primary" or "secondary" MH depending on whether the etiology is known or not, and classified as "small", "medium" and "large" depending on the size of the hole, and according to the presence or absence of VMT. Finally, VMT are described according to presence or absence of an epimacular membrane and according to the width of the adhesion.


Assuntos
Oftalmopatias/classificação , Perfurações Retinianas/classificação , Corpo Vítreo , Humanos , Tomografia de Coerência Óptica
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