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1.
J Fr Ophtalmol ; 42(7): 778-789, 2019 Sep.
Artigo em Francês | MEDLINE | ID: mdl-30935696

RESUMO

Congenital abnormalities of the optic disc are not uncommon in clinical practice and should be recognized. Size abnormalities of the optic disc include optic disc aplasia, hypoplasia, megalopapilla, and optic disc cupping in prematurity. Among congenital excavations of the optic disc head, morning glory disc anomaly and optic disc pit can be complicated by serous retinal detachment; the papillorenal disc is an association of bilateral optic disc cupping and renal hypoplasia which should be ruled out; optic disc coloboma is caused by an abnormal closure of the embryonic fissure and can be complicated by choroidal neovascularization and retinal detachment. Other abnormalities that will be discussed are congenital tilted disc syndrome, duplicity of the optic disc head, congenital pigmentation of the optic disc head and myelinated retinal nerve fibers. All of these abnormalities can be associated with syndromes and neurological diseases, as well as other potentially blinding ophthalmological defects which can be secondarily complicated by amblyopia, strabismus and nystagmus. Thus, they should be recognized in order to plan for appropriate follow-up.


Assuntos
Anormalidades do Olho , Disco Óptico/anormalidades , Coloboma/diagnóstico , Coloboma/terapia , Anormalidades do Olho/diagnóstico , Anormalidades do Olho/terapia , Humanos , Disco Óptico/diagnóstico por imagem , Disco Óptico/embriologia , Disco Óptico/cirurgia , Nervo Óptico/anormalidades
2.
J Dermatol ; 46(5): 422-425, 2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-30809829

RESUMO

A Chinese female infant presented with ectodermal dysplasia, cleft palate and severe skin erosions at birth. Although all the typical clinical features of ankyloblepharon-ectodermal dysplasia-clefting (AEC) syndrome were present, the ankyloblepharon was not very marked. We misdiagnosed epidermolysis bullosa and congenital ichthyosiform erythroderma at first and confirmed the diagnosis of AEC syndrome only when she presented with the typical clinical manifestation of recurrent infected scalp erosions at 1 year of age. Mutation analysis of exon 13 of the p63 gene revealed a missense mutation Ile482Thr (c.1445T>C) in the sterile alpha motive domain. In this work we review the clinical features, differential diagnosis and prognosis in AEC syndrome.


Assuntos
Fenda Labial/diagnóstico , Fissura Palatina/diagnóstico , Erros de Diagnóstico , Displasia Ectodérmica/diagnóstico , Epidermólise Bolhosa/diagnóstico , Anormalidades do Olho/diagnóstico , Pálpebras/anormalidades , Eritrodermia Ictiosiforme Congênita/diagnóstico , Fatores de Transcrição/genética , Proteínas Supressoras de Tumor/genética , Biópsia , Fenda Labial/genética , Fenda Labial/patologia , Fenda Labial/terapia , Fissura Palatina/genética , Fissura Palatina/patologia , Fissura Palatina/terapia , Displasia Ectodérmica/genética , Displasia Ectodérmica/patologia , Displasia Ectodérmica/terapia , Epidermólise Bolhosa/patologia , Anormalidades do Olho/genética , Anormalidades do Olho/patologia , Anormalidades do Olho/terapia , Pálpebras/patologia , Feminino , Testes Genéticos , Heterozigoto , Humanos , Eritrodermia Ictiosiforme Congênita/patologia , Recém-Nascido de Baixo Peso , Recém-Nascido , Recém-Nascido Prematuro , Mutação de Sentido Incorreto , Pele/patologia
3.
BMC Ophthalmol ; 18(1): 252, 2018 Sep 18.
Artigo em Inglês | MEDLINE | ID: mdl-30227830

RESUMO

BACKGROUND: To report a patient who presented with bluish scleral discoloration, keratoconus, and progressive high myopia. CASE PRESENTATION: A 6-year-old Chinese female patient presented with a significant bluish discoloration of the sclera in both eyes and extreme corneal thinning with anterior corneal protrusion. General pediatric physical examination was normal for all systems and no genetic disorders known were observed. CONCLUSIONS: We aim to highlight the importance of diagnosis and treatment of patients suffering from Brittle cornea syndrome. Timely diagnosis and early provision of protective glasses seem to be the most important step in treating BCS. To our knowledge, this is the first case of BCS being reported in the Asia area.


Assuntos
Anormalidades do Olho/patologia , Instabilidade Articular/congênito , Anormalidades da Pele/patologia , Criança , Diagnóstico Diferencial , Anormalidades do Olho/terapia , Dispositivos de Proteção dos Olhos , Óculos , Feminino , Humanos , Instabilidade Articular/patologia , Instabilidade Articular/terapia , Ceratocone/patologia , Miopia Degenerativa/patologia , Esclera/patologia , Anormalidades da Pele/terapia
4.
Pan Afr Med J ; 29: 222, 2018.
Artigo em Francês | MEDLINE | ID: mdl-30100976

RESUMO

After birth, remnants of pupillary membrane which constitute the vascular supply to the crystalline lens can persist. These are contiguous to the iris collarette causing possible deprivation amblyopia by obstructing the pupillary area. We here report the case of a 4-year-old child, born to consanguineous parents, presenting with bilateral persistent pupillary membrane associated with high myopia. Clinical examination showed bilateral remnants of pupillary membrane, intact iris sphincter and diffuse chorioretinal atrophy in the fundus of eye . Visual acuity was difficult to assess. On the other hand, refraction test showed high myopia RE -10.75 (-3.25, 29°) LE -10 (-0.75, 180°). Treatment of bilateral persistent pupillary membrane is based on mydriatic agents, surgical excision or laser destruction. We opted for the use of mydriatic agents with total optical correction and amblyopia treatment.


Assuntos
Ambliopia/terapia , Anormalidades do Olho/diagnóstico , Midriáticos/administração & dosagem , Miopia/etiologia , Pré-Escolar , Anormalidades do Olho/complicações , Anormalidades do Olho/terapia , Humanos , Miopia/diagnóstico
5.
Ophthalmology ; 125(11): 1757-1764, 2018 11.
Artigo em Inglês | MEDLINE | ID: mdl-29887331

RESUMO

PURPOSE: To identify the incidence, presenting features, treatment, and clinical course of optic disc pit maculopathy (ODPM) in the United Kingdom (UK). DESIGN: A 2-year nationwide prospective population-based study. SUBJECTS: All new incident cases of ODPM presenting to UK ophthalmologists using the British Ophthalmic Surveillance Unit monthly reporting system. METHODS: All reporting ophthalmologists were sent an initial questionnaire requesting data on previous medical and ophthalmic history, presentation details, investigation findings, and management. A further questionnaire was sent at 12 months post diagnosis to ascertain further outcome data. MAIN OUTCOME MEASURES: Visual acuity at initial presentation, at 1 year, and after any intervention. Foveal involvement and optical coherence tomography (OCT) findings, including retinal layers affected, and the location and size of the optic disc pit. Management, including observation, vitrectomy, and associated procedures. RESULTS: There were 74 confirmed new cases, giving an annual incidence of approximately 1 per 2 million. Complete data were available on 70 patients (70 eyes) at baseline and 68 after 1 year. There were 35 (50%) female patients with a mean age of 35 years (range, 3-82 years). Visual acuity at baseline ranged from 6/5 to hand movements. In 43 patients (61%) subretinal fluid (SRF) was present, whereas 27 (39%) had intraretinal fluid only. The presence of SRF was associated with worse vision and foveal involvement. Of the 53 eyes initially observed with 1-year follow-up, 10 (19%) deteriorated and 9 (16%) improved on OCT; eyes with SRF were more likely to worsen and those without SRF were more likely to improve. Fifteen of the 70 patients (21%) at baseline had primary surgery and a further 10 had deferred surgery within 1 year of presentation; 19 of these 25 eyes (76%) showed anatomic success with a dry fovea at 1 year of follow-up, and 15 (60%) had a greater than 0.1 logMAR improvement in visual acuity. CONCLUSION: The incidence and presenting features of ODPM were defined. Patients with SRF had worse vision and were more likely to deteriorate than patients with intraretinal fluid only. Surgery was anatomically successful in 75% of cases. Patients without SRF tended to remain stable with observation.


Assuntos
Anormalidades do Olho/epidemiologia , Disco Óptico/anormalidades , Doenças Retinianas/epidemiologia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Criança , Pré-Escolar , Anormalidades do Olho/diagnóstico , Anormalidades do Olho/terapia , Feminino , Humanos , Incidência , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Vigilância em Saúde Pública , Doenças Retinianas/diagnóstico , Doenças Retinianas/terapia , Inquéritos e Questionários , Tomografia de Coerência Óptica , Reino Unido/epidemiologia
6.
J Coll Physicians Surg Pak ; 28(5): 401-402, 2018 May.
Artigo em Inglês | MEDLINE | ID: mdl-29690974

RESUMO

Iridogoniodysgenesis is a rare autosomal dominant disorder affecting anterior segment of the eye. Fifty percent cases of iridogoniodysgenesis have glaucoma, which is particularly difficult to manage. We report here a case of 40 years old man with this rare disorder, presenting to our glaucoma department. It was characterised by iris hypoplasia and juvenile glaucoma. To stop fluctuation in his intraocular pressure (IOP) and to save his vision from glaucomatous damage, our team had to do three different surgical procedures, i.e. trabeculectomy with F5U, diode laser cycloablation and aqueous shunt procedure, over a period of 10 months. This case report discusses management of glaucoma in this particular patient and challenges faced during the treatment. Regular follow-up and timely intervention can save such patients from complete blindness. To authors' knowledge, this is the first reported case of iridogoniodysgenesis in Pakistan.


Assuntos
Câmara Anterior/anormalidades , Anormalidades do Olho/terapia , Implantes para Drenagem de Glaucoma , Glaucoma/terapia , Doenças da Íris/terapia , Terapia a Laser , Anormalidades Dentárias/terapia , Trabeculectomia , Adulto , Anormalidades do Olho/diagnóstico , Glaucoma/diagnóstico , Humanos , Pressão Intraocular , Doenças da Íris/diagnóstico , Lasers Semicondutores , Tomografia de Coerência Óptica , Anormalidades Dentárias/diagnóstico , Resultado do Tratamento
7.
J. optom. (Internet) ; 11(1): 40-48, ene.-mar. 2018.
Artigo em Inglês | IBECS | ID: ibc-169368

RESUMO

Purpose: To report the frequency of binocular vision (BV) anomalies in children with specific learning disorders (SLD) and to assess the efficacy of vision therapy (VT) in children with a non-strabismic binocular vision anomaly (NSBVA). Methods: The study was carried out at a centre for learning disability (LD). Comprehensive eye examination and binocular vision assessment was carried out for 94 children (mean (SD) age: 15 (2.2) years) diagnosed with specific learning disorder. BV assessment was done for children with best corrected visual acuity of ≥6/9-N6, cooperative for examination and free from any ocular pathology. For children with a diagnosis of NSBVA (n = 46), 24 children were randomized to VT and no intervention was provided to the other 22 children who served as experimental controls. At the end of 10 sessions of vision therapy, BV assessment was performed for both the intervention and non-intervention groups. Results: Binocular vision anomalies were found in 59 children (62.8%) among which 22% (n = 13) had strabismic binocular vision anomalies (SBVA) and 78% (n = 46) had a NSBVA. Accommodative infacility (AIF) was the commonest of the NSBVA and found in 67%, followed by convergence insufficiency (CI) in 25%. Post-vision therapy, the intervention group showed significant improvement in all the BV parameters (Wilcoxon signed rank test, p < 0.05) except negative fusional vergence. Conclusion: Children with specific learning disorders have a high frequency of binocular vision disorders and vision therapy plays a significant role in improving the BV parameters. Children with SLD should be screened for BV anomalies as it could potentially be an added hindrance to the reading difficulty in this special population (AU)


Objetivo: Reportar la frecuencia de las anomalías en la visión binocular (VB) en niños con trastornos específicos de aprendizaje (SLD), y evaluar la eficacia de la terapia visual (TV) en niños con alteraciones en la visión binocular no estrábicas (NSBVA). Métodos: El estudio se llevó a cabo en un centro para discapacidades de aprendizaje (LD). Se realizó un amplio examen ocular y una valoración de la visión binocular en 94 niños (Media (DE) edad: 15 (2,2) años) con diagnóstico de trastorno específico de aprendizaje. Se llevó a cabo una valoración de la VB en los niños, con agudeza visual mejor corregida de ≥6/9-N6, que cooperaron durante el examen, y que carecían de patología ocular. En los niños con diagnóstico de NSBVA (n = 46), se aleatorizaron 24 de ellos para terapia visual, sin realizar intervención alguna en los 22 niños restantes, que sirvieron de controles. Al finalizar las 10 sesiones de terapia visual, se realizó una valoración de VB tanto en el grupo de intervención como en el de no intervención. Resultados: Se encontraron anomalías en la visión binocular en 59 niños (62,8%), de entre los cuales el 22% (n = 13) tenían alteraciones en la visión binocular estrábica (SBVA), y el 78% (n = 46) reflejaron NSBVA. La inflexibilidad acomodativa (AIF) fue la NSBVA más común, estando presente en el 67% de los casos, seguida de la insuficiencia de convergencia (CI) en 25% de ellos. Tras la terapia visual, el grupo de intervención reflejó una mejora significativa en todos los parámetros de VB (prueba de los rangos con signo de Wilcoxon: p < 0,05) exceptuando la vergencia fusional negativa. Conclusión: Los niños con trastorno específico de aprendizaje tienen una elevada frecuencia de anomalías en la visión binocular, y en ellos la terapia visual juega un papel significativo para la mejora de los parámetros de VB. Deberá supervisarse a los niños con SLD, en relación a las anomalías de VB, que podrían suponer un obstáculo añadido a la dificultad lectora en esta población especial (AU)


Assuntos
Humanos , Masculino , Feminino , Criança , Visão Binocular , Anormalidades do Olho/terapia , Transtornos de Aprendizagem/complicações , Protocolos Clínicos , Erros de Refração/terapia , Estatísticas não Paramétricas
8.
Am J Med Genet A ; 176(1): 187-193, 2018 01.
Artigo em Inglês | MEDLINE | ID: mdl-29160006

RESUMO

The "blepharophimosis-mental retardation" syndromes (BMRS) consist of a group of clinically and genetically heterogeneous congenital malformation syndromes, where short palpebral fissures and intellectual disability associate with a distinct set of other morphological features. Kaufman oculocerebrofacial syndrome represents a rare and recently reevaluated entity within the BMR syndromes and is caused by biallelic mutations of UBE3B. Affected individuals typically show microcephaly, impaired somatic growth, gastrointestinal and genitourinary problems, ectodermal anomalies and a characteristic face with short, upslanted palpebral fissures, depressed nasal bridge. and anteverted nares. Here we present four patients with five novel UBE3B mutations and propose the inclusion of clinical features to the characteristics of Kaufman oculocerebrofacial syndrome, including prominence of the cheeks and limb anomalies.


Assuntos
Anormalidades do Olho/diagnóstico , Anormalidades do Olho/genética , Estudos de Associação Genética , Deficiência Intelectual/diagnóstico , Deficiência Intelectual/genética , Deformidades Congênitas dos Membros/diagnóstico , Deformidades Congênitas dos Membros/genética , Microcefalia/diagnóstico , Microcefalia/genética , Mutação , Fenótipo , Ubiquitina-Proteína Ligases/genética , Biomarcadores , Criança , Análise Mutacional de DNA , Diagnóstico por Imagem , Anormalidades do Olho/terapia , Facies , Feminino , Heterogeneidade Genética , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Lactente , Deficiência Intelectual/terapia , Deformidades Congênitas dos Membros/terapia , Microcefalia/terapia , Análise de Sequência de DNA
9.
BMC Res Notes ; 10(1): 696, 2017 Dec 06.
Artigo em Inglês | MEDLINE | ID: mdl-29208045

RESUMO

BACKGROUND: Joubert's syndrome is a rare condition affecting an estimated 1:80,000-1:100,000 individuals. There is underdevelopment of the cerebellar vermis resulting in a characteristic molar tooth sign on cross sectional axial magnetic resonance imaging. It can occur in association with multi-organ involvement; in such cases it is classified as Joubert's syndrome and related disorders. To date, there are no cases of Joubert's syndrome and related disorders from sub-Saharan Africa described in the literature. CASE PRESENTATION: An 8 year old black Kenyan female child was diagnosed in Joubert's syndrome in her first year of life. She was noted to have dysmorphic facies and hypotonia in the neonatal period and cranial MRI showed dysplasia of the cerebellar vermis and typical molar tooth malformation. She was subsequently lost to follow up for several years and later presented with anaemia. Further investigation revealed bilateral multicystic kidneys and significant renal impairment consistent with a diagnosis of end stage renal failure and polycystic kidney disease. She underwent home peritoneal dialysis for 7 months. CONCLUSIONS: Joubert's syndrome and related disorders is a rare condition. This case report demonstrates that home peritoneal dialysis is feasible in a low resource setting. Although it is scarcely provided in African countries, it is an effective renal replacement strategy for patients with end stage renal disease.


Assuntos
Anormalidades Múltiplas/diagnóstico , Cerebelo/anormalidades , Anormalidades do Olho/diagnóstico , Doenças Renais Císticas/diagnóstico , Diálise Peritoneal , Retina/anormalidades , Anormalidades Múltiplas/diagnóstico por imagem , Anormalidades Múltiplas/terapia , África Oriental , Encéfalo/diagnóstico por imagem , Cerebelo/diagnóstico por imagem , Criança , Anormalidades do Olho/complicações , Anormalidades do Olho/diagnóstico por imagem , Anormalidades do Olho/terapia , Feminino , Seguimentos , Humanos , Doenças Renais Císticas/complicações , Doenças Renais Císticas/diagnóstico por imagem , Doenças Renais Císticas/terapia , Imagem por Ressonância Magnética , Retina/diagnóstico por imagem , Resultado do Tratamento
10.
Zhongguo Dang Dai Er Ke Za Zhi ; 19(12): 1291-1296, 2017 Dec.
Artigo em Chinês | MEDLINE | ID: mdl-29237532

RESUMO

Infant hemangioma, the most common benign tumor in children, is characterized by rapid proliferation, followed by slower spontaneous involution. However, some patients with facial segmental hemangioma are associated with PHACE syndrome. PHACE syndrome is characterized by vascular nerve and vascular cutaneous lesions of multiple systemic systems, often resulting in structural and functional impairments. Recent studies have demonstrated that the possible pathogeneses of PHACE syndrome mainly include hypoxia, abnormality of mesodermal vascular endothelial cells, genetic abnormality, and abnormality of interstitial mesenchymal stem cells. The current medications for hemangioma with PHACE syndrome include beta blockers, glucocorticoids, and mTOR inhibitors. This review article mainly describes the pathogenesis, diagnoses and treatments of PHACE syndrome, in order to provide directions for diagnosis and treatment of this disorder.


Assuntos
Anormalidades Múltiplas/terapia , Anormalidades do Olho/terapia , Cardiopatias Congênitas/terapia , Hemangioma/terapia , Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/etiologia , Anormalidades do Olho/diagnóstico , Anormalidades do Olho/etiologia , Cardiopatias Congênitas/diagnóstico , Cardiopatias Congênitas/etiologia , Hemangioma/diagnóstico , Hemangioma/etiologia , Humanos , Lactente
11.
J Craniofac Surg ; 28(8): 2012-2015, 2017 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-28906334

RESUMO

The aim of this work is to discuss the anatomy of the tear trough region with relative danger areas, and to describe 2 different options to correct this deformity.The tear trough is a concave deformity of the orbital fat that is noticeable as a result of inherited anatomic differences and aging. However, the periorbital region is a complex area with its own septa and ligaments, fat compartments, muscles, vascularization, and lymphatic drainage and presents anatomic characteristics that must be taken into account in order to achieve good results and avoid complications.The use of hyaluronic acid gel or autologous fat for soft tissue correction is a good option.A total of 96 patients with periorbital hollowing were divided into 2 groups; each group received a different treatment, from December of 2013 to December of 2015, with hyaluronic- or lipo-filling.


Assuntos
Tecido Adiposo/transplante , Preenchedores Dérmicos/uso terapêutico , Anormalidades do Olho/terapia , Ácido Hialurônico/uso terapêutico , Envelhecimento da Pele , Técnicas Cosméticas , Olho/anatomia & histologia , Humanos
12.
Optom Vis Sci ; 94(7): 781-785, 2017 07.
Artigo em Inglês | MEDLINE | ID: mdl-28609419

RESUMO

PURPOSE: Retinal arteriolar macroaneurysms are a common cause of vision loss in elderly patients with hypertension and cardiovascular disease. Their occurrence in the young, however, is not well known. The purpose of this article is to describe an unusual cause of retinal arteriolar macroaneurysm in a healthy young man. CASE REPORT: A 30-year-old man presented with preretinal hemorrhage and macular exudation due to ruptured retinal artery macroaneurysm. The patient was treated with intravitreal bevacizumab and laser photocoagulation to the macroaneurysm. The exudation and preretinal hemorrhage resolved over several months. Fluorescein angiogram at this stage revealed a congenital anomalous retinal artery. CONCLUSIONS: Congenital anomalous retinal artery may be associated with retinal artery macroaneurysm even in the young age in the absence of any other predisposing factors. The presentation and treatment of such retinal artery macroaneurysm, however, may remain the same to those that occur in older patients.


Assuntos
Aneurisma Roto/etiologia , Anormalidades do Olho/complicações , Artéria Retiniana/anormalidades , Doenças Retinianas/etiologia , Adulto , Inibidores da Angiogênese/uso terapêutico , Bevacizumab/uso terapêutico , Terapia Combinada , Anormalidades do Olho/diagnóstico , Anormalidades do Olho/terapia , Angiofluoresceinografia , Humanos , Injeções Intravítreas , Fotocoagulação , Masculino , Hemorragia Retiniana/etiologia , Fator A de Crescimento do Endotélio Vascular/antagonistas & inibidores
13.
Nurs Child Young People ; 29(5): 15, 2017 Jun 12.
Artigo em Inglês | MEDLINE | ID: mdl-28604212
14.
J Craniofac Surg ; 28(4): e349-e351, 2017 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-28230601

RESUMO

Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome, also known as Hay-Wells syndrome, is an autosomal genetic disease with the main features of ankyloblepharon filiforme adnatum, ectodermal defects, and cleft lip/palate. The authors report a patient with 17 months old girl with AEC syndrome having ankyloblepharon, cleft and palate, and ectrodactyly with some associated features. Etiology, clinical features, differential diagnosis, and treatment have been elaborated in this clinical report.


Assuntos
Fenda Labial/diagnóstico , Fissura Palatina/diagnóstico , Displasia Ectodérmica/diagnóstico , Anormalidades do Olho/diagnóstico , Pálpebras/anormalidades , Fenda Labial/etiologia , Fenda Labial/terapia , Fissura Palatina/etiologia , Fissura Palatina/terapia , Diagnóstico Diferencial , Displasia Ectodérmica/etiologia , Displasia Ectodérmica/terapia , Anormalidades do Olho/etiologia , Anormalidades do Olho/terapia , Feminino , Humanos , Lactente
15.
Zhonghua Kou Qiang Yi Xue Za Zhi ; 52(11): 700-703, 2017 Nov 09.
Artigo em Chinês | MEDLINE | ID: mdl-29972952

RESUMO

PHACE syndrome is a syndrome of multiple organ and multisystem abnormalities associated with infantile segmental hemangioma, characterized by abnormal posterior fossa development, infant hemangioma, aortic abnormalities, aortic coarctation and heart defects, eye anomalies and other symptoms. The incidence of the disease is low, but there exist life-threatening factors. Once clinically diagnosed, it should be highly valued and multidisciplinary consultation must be conducted. This article reviews the diagnostic criteria of PHACE syndrome and its associated facial segmental hemangioma, as well as the treatment and prognosis of brain abnormalities.


Assuntos
Coartação Aórtica/diagnóstico , Coartação Aórtica/terapia , Anormalidades do Olho/diagnóstico , Anormalidades do Olho/terapia , Síndromes Neurocutâneas/diagnóstico , Síndromes Neurocutâneas/terapia , Anormalidades Múltiplas/diagnóstico , Feminino , Humanos , Lactente , Síndrome
16.
Cleft Palate Craniofac J ; 54(6): 749-753, 2017 11.
Artigo em Inglês | MEDLINE | ID: mdl-27723380

RESUMO

Oculo-auriculo-vertebral spectrum and frontonasal dysplasia are two well-known examples of dysmorphology syndromes. Oculoauriculofrontonasal syndrome (OAFNS) is a clinical entity involving the characteristics of both OAVS and FND and is thought to be a result of the abnormal development of structures in the first and the second branchial arches, including the abnormal morphogenesis of maxillary processes. Herein we report a case of OAFNS with cliteral hypertrophy, premaxillary teeth, and inguinal hernia, features not previously reported in the literature.


Assuntos
Anormalidades Craniofaciais/diagnóstico , Anormalidades Craniofaciais/terapia , Orelha Externa/anormalidades , Anormalidades do Olho/diagnóstico , Anormalidades do Olho/terapia , Anormalidades do Sistema Respiratório/diagnóstico , Anormalidades do Sistema Respiratório/terapia , Coluna Vertebral/anormalidades , Anormalidades Craniofaciais/diagnóstico por imagem , Diagnóstico Diferencial , Orelha Externa/diagnóstico por imagem , Anormalidades do Olho/diagnóstico por imagem , Feminino , Humanos , Recém-Nascido , Anormalidades do Sistema Respiratório/diagnóstico por imagem , Coluna Vertebral/diagnóstico por imagem
17.
J Glaucoma ; 26(4): e160-e162, 2017 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-27571445

RESUMO

PURPOSE: To describe a new approach for the treatment of cyclitic vascularized pupillary membranes. PATIENTS AND METHODS: A retrospective interventional case series describing 3 patients undergoing a novel interventional treatment at a single institutional center. RESULTS: This technique allows successful completion of laser membranectomy to create a pupillary aperture. This aperture resulted in improved vision and an enhanced ability to examine for and treat ischemic retinal disease. CONCLUSIONS: This technique describes a new use for bevacizumab that enables the surgeon to treat recalcitrant and recurrent cyclitic vascularized pupillary membranes.


Assuntos
Inibidores da Angiogênese/uso terapêutico , Segmento Anterior do Olho/irrigação sanguínea , Bevacizumab/uso terapêutico , Anormalidades do Olho/terapia , Fotocoagulação a Laser , Lasers de Estado Sólido/uso terapêutico , Neovascularização Patológica/terapia , Idoso , Terapia Combinada , Anormalidades do Olho/tratamento farmacológico , Anormalidades do Olho/cirurgia , Feminino , Humanos , Injeções Intravítreas , Masculino , Pessoa de Meia-Idade , Neovascularização Patológica/tratamento farmacológico , Neovascularização Patológica/cirurgia , Estudos Retrospectivos , Fator A de Crescimento do Endotélio Vascular/antagonistas & inibidores , Acuidade Visual
18.
J Fr Ophtalmol ; 39(9): 804-813, 2016 Nov.
Artigo em Francês | MEDLINE | ID: mdl-27769582

RESUMO

Orbito-palpebral vascular pathology represents 10% of all the diseases of this area. The lesion may be discovered during a brain CT scan or MRI, or because it causes clinical symptoms such as orbital mass, visual or oculomotor alteration, pain, proptosis, or acute bleeding due to a complication of the lesion (hemorrhage, thrombosis). We present these lesions using an anatomical, clinical, imaging and therapeutic approach. We distinguish four different entities. Vascular tumors have common imaging characteristics (hypersignal on T2 sequence, contrast enhancement, abnormal vascularization well depicted with ultrasound and Doppler, and possible bleeding). The main lesions are cavernous hemangiomas, the most frequent lesion of that type during adulthood; infantile hemangiomas, the most frequent vascular tumor in children; and more seldomly, hemangioperitcytomas. True vascular malformations are divided according to their flow. Low flow lesions are venous (orbital varix), capillarovenous or lymphatic (lymphangioma). High flow malformations, more rare, are either arteriovenous or arterial malformations (aneurisms). Complex malformations include both low and high flow elements. Lesions leading to modifications of the orbito-palpebral blood flow are mainly due to cavernous sinus abnormalities, either direct carotid-cavernous fistula affecting young adults after severe head trauma, or dural fistula, more insidious, found in older adults. The last section is devoted to congenital syndromic vascular malformations (Sturge-Weber, Rendu-Olser…). This classification allows for a better understanding of these pathologies and their specific imaging features.


Assuntos
Anormalidades do Olho/diagnóstico , Pálpebras/anormalidades , Órbita/anormalidades , Malformações Vasculares , Adulto , Fístula Arteriovenosa/diagnóstico , Fístula Arteriovenosa/patologia , Fístula Arteriovenosa/terapia , Diagnóstico Diferencial , Anormalidades do Olho/patologia , Anormalidades do Olho/terapia , Pálpebras/irrigação sanguínea , Pálpebras/diagnóstico por imagem , Hemangioma/diagnóstico , Hemangioma Cavernoso/diagnóstico , Humanos , Imagem por Ressonância Magnética , Órbita/irrigação sanguínea , Órbita/diagnóstico por imagem , Tomografia Computadorizada por Raios X , Malformações Vasculares/diagnóstico , Malformações Vasculares/patologia , Malformações Vasculares/terapia , Adulto Jovem
20.
Am J Med Genet A ; 170(9): 2471-5, 2016 09.
Artigo em Inglês | MEDLINE | ID: mdl-27378168

RESUMO

Peters anomaly is a form of anterior segment dysgenesis characterized by central ocular opacity and corneo-lenticular adhesions. Isolated and syndromic Peters anomaly can be observed and demonstrate significant genetic heterogeneity. We report the identification of overlapping 8q21.11 deletions in two patients with syndromic Peters anomaly via whole exome sequencing and chromosomal microarray analyses. Microdeletions of 8q21.11 were recently reported in 10 patients with highly variable phenotypes involving craniofacial features, ptosis, intellectual disability, abnormalities of the hands/feet and other defects; sclerocornea and/or microphthalmia were reported in three cases. The two additional cases presented in this report expand the phenotypic spectrum of 8q21.11 microdeletions to include Peters anomaly (seen in both patients) and persistent primary dentition (seen in one patient with a larger deletion). The two novel deletions include the ZFHX4 and PEX2 genes, which were also affected in all three previous cases involving ocular anomalies. Screening of the remaining alleles of ZFHX4 and PEX2 did not identify any additional likely pathogenic variants in either patient, suggesting a dominant mechanism (haploinsufficiency) for the identified deletion. This report provides further insight into the phenotypes associated with 8q21.11 deletions and, for the first time, reports Peters anomaly as an additional ocular feature; screening for copy number variations of the 8q21.11 region should be considered in patients with Peters anomaly and related syndromic features. © 2016 Wiley Periodicals, Inc.


Assuntos
Segmento Anterior do Olho/anormalidades , Deleção Cromossômica , Cromossomos Humanos Par 8 , Opacidade da Córnea/diagnóstico , Opacidade da Córnea/genética , Anormalidades do Olho/diagnóstico , Anormalidades do Olho/genética , Estudos de Associação Genética , Criança , Biologia Computacional/métodos , Opacidade da Córnea/terapia , Variações do Número de Cópias de DNA , Exoma , Anormalidades do Olho/terapia , Facies , Feminino , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Lactente , Masculino , Fenótipo , Síndrome
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