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2.
BMC Ophthalmol ; 19(1): 165, 2019 Jul 31.
Artigo em Inglês | MEDLINE | ID: mdl-31366340

RESUMO

BACKGROUND: The present study sought to introduce clinical characteristics and stepwise surgical strategies of isolated complete cryptophthalmos, a rare, congenital ocular anomaly. CASE PRESENTATION: Retrospective, noncomparative, clinical study. Six patients with isolated complete cryptophthalmos were diagnosed at the Beijing Tongren Hospital between 2010 to 2018. The presentation age of patients ranged from 1 month to 68 years. This study includes two males and four females, and involvement was noted to be bilateral in two cases and unilateral in four cases. According to orbital CT scan and ocular CDI results, two patients were combined with ocular cyst. Reconstruction surgeries were performed in three patients, involving the eyeball enucleation, creation of fornix, eyelid reconstruction with skin flaps/amniotic membrane, and implantation of prosthesis. Besides, implantation of hydroxyapatite was performed in one pediatric patient to promote orbit development. Good outcomes in terms of cosmetic satisfaction were achieved in all patients during follow-up. CONCLUSIONS: Surgical intervention could only improve the cosmetic appearance in isolated complete cryptophthalmos. The surgical strategies may be planned to use three-stage approaches described in this study. Meanwhile, orbital development must be taken into consideration in pediatric cases.


Assuntos
Âmnio/transplante , Anormalidades do Olho/cirurgia , Doenças Palpebrais/congênito , Pálpebras/cirurgia , Procedimentos Cirúrgicos Oftalmológicos/métodos , Procedimentos Cirúrgicos Reconstrutivos/métodos , Retalhos Cirúrgicos , Adolescente , Adulto , Idoso , Criança , Pré-Escolar , Anormalidades do Olho/diagnóstico , Doenças Palpebrais/diagnóstico , Doenças Palpebrais/cirurgia , Feminino , Seguimentos , Humanos , Lactente , Recém-Nascido , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Tomografia Computadorizada por Raios X , Adulto Jovem
3.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 36(7): 686-689, 2019 Jul 10.
Artigo em Chinês | MEDLINE | ID: mdl-31302911

RESUMO

OBJECTIVE: To explore the pathogenesis of two fetuses from one family affected with Joubert syndrome (JS). METHODS: Whole exome sequencing was employed to screen potential mutations in both fetuses. Suspected mutations were verified by Sanger sequencing. Impact of intronic mutations on DNA transcription was validated by cDNA analysis. RESULTS: Two novel TCTN1 mutations, c.342-8A>G and c.1494+1G>A, were identified in exons 2 and 12, respectively.cDNA analysis confirmed the pathogenic nature of both mutations with interference of normal splicing resulting in production of truncated proteins. CONCLUSION: The genetic etiology of the family affected with JS has been identified.Above findings have enriched the mutation spectrum of TCTN1gene and facilitated understanding of the genotype-phenotype correlation of JS.


Assuntos
Anormalidades Múltiplas/genética , Cerebelo/anormalidades , Anormalidades do Olho/genética , Doenças Renais Císticas/genética , Proteínas de Membrana/genética , Retina/anormalidades , Anormalidades Múltiplas/diagnóstico , Anormalidades do Olho/diagnóstico , Humanos , Doenças Renais Císticas/diagnóstico , Mutação , Linhagem , Sequenciamento Completo do Exoma
4.
Asia Pac J Ophthalmol (Phila) ; 8(3): 247-255, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31179667

RESUMO

Optic disc pit (ODP) is a rare congenital anomaly of the optic disc that can be associated with maculopathy leading to progressive visual deterioration. The vast majority of cases are sporadic and no obvious factors have been correlated with the development of maculopathy. Optic disc pit maculopathy is defined by the concentration of intraretinal and subretinal fluid at the area of macula. Despite the advances in the imaging of the fundus, the origin of the fluid remains unknown and the exact pathogenesis of the maculopathy is not fully understood. Although some cases have been reported to resolve spontaneously, most cases require surgical intervention in order to treat ODP maculopathy and prevent loss of vision. Currently, there is no definite treatment for these patients and several surgical methods have been described, including pars plana vitrectomy (PPV) (combined with various techniques, such as inner retinal fenestration, autologous fibrin, and glial tissue removal), laser photocoagulation, intravitreal gas injection, and macular buckling. Overall, PPV remains the main form of surgical repair of ODP maculopathy. Although our understanding of the background and the pathophysiology of the disease has significantly improved, more studies are required in order to define the optimal treatment. This review summarizes the potential pathogenesis, as well as the diagnostic and therapeutic approach of ODP maculopathy.


Assuntos
Anormalidades do Olho/diagnóstico , Macula Lutea/patologia , Disco Óptico/anormalidades , Doenças Retinianas/congênito , Acuidade Visual , Humanos , Doenças Retinianas/diagnóstico , Tomografia de Coerência Óptica
5.
Indian J Ophthalmol ; 67(6): 912-916, 2019 06.
Artigo em Inglês | MEDLINE | ID: mdl-31124514

RESUMO

Purpose: To evaluate the characteristics and morbidity due to ocular auto-stimulation (OAS) in stage 5 Retinopathy of Prematurity (ROP). Methods: Stage 5 ROP cases presenting to ROP clinic of a tertiary care centre from January 2017 to December 2017 were recruited. Eye-pressing was elicited on history from parents and categorized as infrequent (performed <50% of waking time) or frequent (≥50% of time). B-scan ultrasonography was performed for configuration of retinal detachment (open or closed funnel). Keratometry was performed in eyes undergoing vitrectomy under general anaesthesia using automated hand-held keratometer. The outcome measures were the presence and characteristics of OAS, enophthalmos, corneal opacity and keratometry values. Results: Out of 93 eyes of 49 babies, 78.5% (n = 73) had OAS. Gestational age, birth weight, sex, retinal funnel configuration, and visual function did not significantly affect OAS. However, post-conceptional age was significantly greater in eyes with OAS (95% CI: 63.1 to 69.9 weeks) than those without OAS (95% CI: 52.4 to 63.4 weeks) (P = 0.018). OAS occurred frequently in 32.8% (n = 24/73) eyes, more commonly in eyes with light followability. Keratometry did not differ significantly with the presence of OAS (P = 0.88). Enophthalmos, corneal opacity, posterior synechiae were noted in 79.5% (58/73), 21.9% (16/73), and 28.8% (21/73) eyes with OAS, respectively. Enophthalmos occurred significantly in eyes with OAS (P = 0.001), while corneal opacity and posterior synechiae did not (P = 0.071 and 0.91, respectively). Conclusion: OAS and its resultant morbidity are common occurrences in stage 5 ROP. The post-conceptional age and residual visual function may govern the characteristics of OAS.


Assuntos
Anormalidades do Olho/epidemiologia , Retinopatia da Prematuridade/epidemiologia , Acuidade Visual/fisiologia , Comorbidade , Estudos Transversais , Anormalidades do Olho/diagnóstico , Feminino , Idade Gestacional , Humanos , Índia/epidemiologia , Lactente , Recém-Nascido , Masculino , Oftalmoscopia , Retinopatia da Prematuridade/diagnóstico , Estudos Retrospectivos , Centros de Atenção Terciária
6.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 36(5): 498-501, 2019 May 10.
Artigo em Chinês | MEDLINE | ID: mdl-31030443

RESUMO

OBJECTIVE: To determine the origin of supernumerary small marker chromosomes (sSMCs) carried by two fetuses. METHODS: Single nucleotide polymorphism array (SNP-array) and fluorescence in situ hybridization (FISH) analysis were carried out on cells cultured from the amniotic fluid samples. RESULTS: SNP-array analysis showed both fetuses to be arr[hg19]22q11.1q11.21(16 888 899-18 649 190)×4, with a duplicated 1.7 Mb region (16 888 899-18 649 190) leading to partial tetrasomy of 22q11.1-22q11.21. FISH confirmed that both fetuses were 47,XN,+mar.ish idic(22)(q11.2) (RP11-958H20 ++),which suggested a diagnosis of Cat-eye syndrome (CES). The appearance of abortuses were consistent with the diagnosis of CES. CONCLUSION: Two fetuses with CES were diagnosed by genetic testing. The latter has provided a basis for genetic counseling.


Assuntos
Feto , Diagnóstico Pré-Natal , Aneuploidia , Transtornos Cromossômicos/diagnóstico , Cromossomos Humanos Par 22 , Anormalidades do Olho/diagnóstico , Feminino , Humanos , Hibridização in Situ Fluorescente , Cariotipagem , Gravidez
7.
BMJ Case Rep ; 12(4)2019 Apr 23.
Artigo em Inglês | MEDLINE | ID: mdl-31015250

RESUMO

Joubert syndrome (JS) and JS-related disorders are a group of developmental delay, multiple congenital anomalies and complex midbrain-hindbrain malformations. A few cases of JS with multiple pituitary hormone deficiency (MPHD) have been reported in literature. Here, we presented an unusual presentation of JS in a newborn with MPHD. This case is intended to draw attention to the rare association of JS and MDPH by increasing the awareness of this syndrome.


Assuntos
Cerebelo/anormalidades , Anormalidades do Olho/complicações , Terapia de Reposição Hormonal/métodos , Doenças Renais Císticas/complicações , Hormônios Hipofisários/deficiência , Retina/anormalidades , Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/tratamento farmacológico , Anormalidades Múltiplas/etiologia , Anormalidades Múltiplas/genética , Assistência ao Convalescente , Encéfalo/diagnóstico por imagem , Deficiências do Desenvolvimento/diagnóstico , Deficiências do Desenvolvimento/etiologia , Deficiências do Desenvolvimento/genética , Diagnóstico Diferencial , Anormalidades do Olho/diagnóstico , Anormalidades do Olho/tratamento farmacológico , Doenças dos Genitais Masculinos/diagnóstico , Doenças dos Genitais Masculinos/etiologia , Humanos , Hipoglicemia/diagnóstico , Hipoglicemia/etiologia , Recém-Nascido , Doenças Renais Císticas/diagnóstico , Doenças Renais Císticas/tratamento farmacológico , Imagem por Ressonância Magnética , Masculino , Pênis/anormalidades , Hormônios Hipofisários/metabolismo , Esteroides/administração & dosagem , Esteroides/uso terapêutico , Resultado do Tratamento
13.
Klin Monbl Augenheilkd ; 236(3): 269-285, 2019 Mar.
Artigo em Alemão | MEDLINE | ID: mdl-30736081

RESUMO

To control the development of the ocular phenotype, several coordinated steps of temporally- and spatially-organized networked triggers (inductions) are necessary. This is regulated at the level of transcription. Crucial here are the so-called master genes or DNA-binding transcription factors PAX6, FOXC1, SOX2, FOXE3, OTX2, PITX2 and PAX2. Depending on the disease phenotype, it is possible to conclude on the gestational period in which ocular development was profoundly disrupted. The so-called neural crest cells contribute significantly to the development of eye structures, especially of the anterior segment. The review first presents a brief overview of the embryologic development of ocular structures and then describes major profound developmental disorders of the eyes: phenotypic and genetic features in the MAC spectrum (microphthalmia, anophthalmia, coloboma) as well as anterior segment dysgenesis (Axenfeld-Rieger spectrum, aniridia, Peters anomaly). It also outlines the systemic involvement of these diseases. In clinical and genetic diagnostic pathways, the determining factor is the exact phenotypic characterization that must be preceded by any genetic diagnosis and the further choice of diagnostic options. "Shotgun diagnostics" on all of the described genes involved in ocular developmental disorders is costly and less effective than a phenotypically-oriented selection of the genes common to the phenotypical syndrome described, and only then should it be followed by the analysis of rarer genes in a second or third molecular genetic step.


Assuntos
Aniridia , Anormalidades do Olho , Aniridia/diagnóstico , Aniridia/genética , Segmento Anterior do Olho , Anormalidades do Olho/diagnóstico , Anormalidades do Olho/genética , Proteínas de Homeodomínio/genética , Humanos , Mutação
14.
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
15.
Emerg Med J ; 36(3): 159-162, 2019 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-30630841

RESUMO

OBJECTIVE: The Wood's lamp, a handheld instrument that uses long-wave ultraviolet (UV) light with magnification of 2-3 times, is commonly used by non-ophthalmologists for examining patients with eye complaints. The goal of current research was to determine the sensitivity and specificity of the Wood's lamp for common eye abnormalities. STUDY DESIGN: We examined a convenience sample of patients, 18 years of age and older, who presented for eye complaints to an urgent clinic of a large ophthalmology practice. This prospective observational trial was performed from December 2016 until July 2017. An ophthalmologist examined the patient's eyes with a Wood's lamp, followed by examination of the eyes using a slit lamp. The Wood's lamp was compared with the slit lamp, which served as the gold standard. RESULTS: There were 73 patients recruited. The mean age of study subjects (29 female and 44 male) was 49 years. The overall sensitivity of the Wood's lamp was 52% (38/73; 95% CI 40% to 64%). Based on the principal final diagnosis made with the slit lamp, the Wood's lamp only detected 9 of 16 corneal abrasions, 5 of 10 corneal ulcers, 5 of 9 corneal foreign bodies, 0 of 4 cases of non-herpetic keratitis, 1 of 2 cases of herpes keratitis, 1 of 5 rust rings and 18 of 28 other diagnoses. CONCLUSIONS AND RELEVANCE: Examination using the Wood's lamp fails to detect many common eye abnormalities. Our findings support the need for a slit lamp examination of patients with eye complaints whenever possible.


Assuntos
Equipamentos para Diagnóstico/normas , Anormalidades do Olho/diagnóstico , Adulto , Idoso , Túnica Conjuntiva/lesões , Córnea/anormalidades , Medicina de Emergência/instrumentação , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Ohio , Estudos Prospectivos , Sensibilidade e Especificidade , Raios Ultravioleta
18.
Indian J Ophthalmol ; 67(2): 302-305, 2019 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-30672504

RESUMO

A patient, being a moderate myope with an axial length of 24.71 mm, presented to us with a fresh rhegmatogenous retinal detachment and marked peripheral chorioretinal degeneration. Difficulty in maneuvering with the standard 23 gauge vitrectomy cutter, inability to identify the break due to poor peripheral contrast, inadequate laser uptake, and an unusual large silicon oil fill (7.3 ml) were a few findings raising suspicion. Postoperative ocular ultrasonography showed an oblate eyeball with a relatively longer oblique axis (26.1 mm) as compared to the axial length confirming our suspicion. Oblateness should be suspected when the chorioretinal degenerations are more marked in the periphery as compared to the posterior pole. Intraoperative difficulties should be kept in mind while operating such cases.


Assuntos
Comprimento Axial do Olho/anormalidades , Anormalidades do Olho/complicações , Retina/patologia , Descolamento Retiniano/etiologia , Acuidade Visual , Anormalidades do Olho/diagnóstico , Feminino , Angiofluoresceinografia , Fundo de Olho , Humanos , Pessoa de Meia-Idade , Doenças Raras , Descolamento Retiniano/diagnóstico , Descolamento Retiniano/cirurgia , Vitrectomia
19.
Ophthalmic Surg Lasers Imaging Retina ; 49(12): e226-e232, 2018 12 01.
Artigo em Inglês | MEDLINE | ID: mdl-30566707

RESUMO

BACKGROUND AND OBJECTIVE: To evaluate long-term outcomes of inverted internal limiting membrane (ILM) stuffing into the optic disc pit for optic disc pit maculopathy (ODP-M) compared with vitrectomy with ILM peeling alone. PATIENTS AND METHODS: Twelve eyes of 12 patients who underwent vitrectomy for ODP-M and followed up more than 12 months were included. We retrospectively analyzed outcomes of inverted ILM flap stuffing into ODP (group 1, n = 6) with ILM peeling alone (group 2, n = 6). RESULTS: At 12 months, both groups showed significant improvement in best-corrected visual acuity and central macular thickness. On comparison, significantly faster resolution of maculoschisis was found in group 1 compared with group 2 (P = .012). CONCLUSIONS: Pars plana vitrectomy (PPV) with ILM peeling and PPV with inverted ILM stuffing are effective treatment modalities for ODP-M, with inverted ILM stuffing showing faster resolution of maculoschisis. [Ophthalmic Surg Lasers Imaging Retina. 2018;49:e226-e232.].


Assuntos
Membrana Basal/transplante , Anormalidades do Olho/complicações , Disco Óptico/anormalidades , Doenças Retinianas/cirurgia , Retalhos Cirúrgicos , Vitrectomia/métodos , Adolescente , Adulto , Anormalidades do Olho/diagnóstico , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Doenças Retinianas/diagnóstico , Doenças Retinianas/etiologia , Estudos Retrospectivos , Fatores de Tempo , Tomografia de Coerência Óptica , Acuidade Visual , Adulto Jovem
20.
Ophthalmic Surg Lasers Imaging Retina ; 49(12): e271-e277, 2018 12 01.
Artigo em Inglês | MEDLINE | ID: mdl-30566713

RESUMO

BACKGROUND AND OBJECTIVE: To describe a novel surgical technique using pars plana vitrectomy (PPV), internal limiting membrane (ILM) abrasion, and intravitreal fibrin glue for the treatment of optic disc pit maculopathy. PATIENTS AND METHODS: Surgical case series technique with scanning electron microscopy (SEM) of human post-mortem eyes. RESULTS: Using SEM, the authors demonstrate the persistent adherence of vitreous fragments to the optic disc following induction of posterior vitreous detachment in human postmortem eyes. The authors describe a surgical technique using PPV, Tano Diamond Dusted Membrane Scraper for an ILM abrasion, intravitreal fibrin glue (Tisseel), and gas-air exchange to seal optic disc pits. The authors report successful long-term visual and anatomical outcomes in three patients. CONCLUSIONS: Intravitreal fibrin glue, when combined with ILM abrasion, may be a viable treatment option for optic disc pit maculopathy with good short- and long-term visual acuity outcomes. SEM shows that ILM abrasion removes vitreous fragments, which are persistently adherent and may lead to failure with other interventional techniques. [Ophthalmic Surg Lasers Imaging Retina. 2018;49:e271-e277.].


Assuntos
Membrana Basal/cirurgia , Anormalidades do Olho/cirurgia , Adesivo Tecidual de Fibrina/farmacologia , Fotocoagulação a Laser/métodos , Disco Óptico/anormalidades , Acuidade Visual , Vitrectomia/métodos , Adolescente , Adulto , Tamponamento Interno , Anormalidades do Olho/diagnóstico , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Adesivos Teciduais/farmacologia , Tomografia de Coerência Óptica
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