Christiane Rolim de Moura

Genotype-Phenotype Correlations in CYP1B1-Associated Primary Congenital Glaucoma Patients Representing Two Large Cohorts from India and Brazil.

Background Primary congenital glaucoma (PCG), occurs due to the developmental defects in the trabecular meshwork and anterior chamber angle in children. PCG exhibits genetic heterogeneity and the CYP1B1 gene has been widely implicated worldwide. Despite the diverse mutation spectra, the clinical implications of these mutations are yet unclear. The present study attempted to delineate the clinical profile of PCG in the background of CYP1B1 mutations from a large cohort of 901 subjects from India (n=601) and Brazil (n=300). Methods Genotype-phenotype correlations was undertaken on clinically well characterized PCG cases from India (n=301) and Brazil (n=150) to assess the contributions of CYP1B1 mutation on a set of demographic and clinical parameters. The demographic (gender, and history of consanguinity) and quantitative clinical (presenting intraocular pressure [IOP] and corneal diameter [CD]) parameters were considered as binary and continuous variables, respectively, for PCG patients in the background of the overall mutation spectra and also with respect to the prevalent mutations in India (R368H) and Brazil (4340delG). All these variables were fitted in a multivariate logistic regression model using the Akaike Information Criterion (AIC) to estimate the adjusted odds ratio (OR) using the R software (version 2.14.1). Results The overall mutation spectrum were similar across the Indian and Brazilian PCG cases, despite significantly higher number of homozygous mutations in the former (p=0.024) and compound heterozygous mutations in the later (p=0.012). A wide allelic heterogeneity was observed and only 6 mutations were infrequently shared between these two populations. The adjusted ORs for the binary (demographic) and continuous (clinical) variables did not indicate any susceptibility to the observed mutations (p>0.05). Conclusions The present study demonstrated a lack of genotype-phenotype correlation of the demographic and clinical traits to CYP1B1 mutations in PCG at presentation. However, the susceptibility of these mutations to the long-term progression of these traits are yet to be deciphered.

Creation of a childhood glaucoma registry database

PURPOSE The aim is creation of a database to register patients diagnosed with childhood glaucoma. Information collection and storage will utilize a digital platform that permits multiple centers to register patients. This registry will be an important tool to evaluate and group patient profiles, thus allowing identification of risk factors, estimating prevalence, and recruiting participants in future studies. METHODS An online form was designed at the Department of Ophthalmology and Visual Sciences of the Federal University of Sao Paulo to create a registry of patients diagnosed with congenital glaucoma. In addition, a pilot study was conducted in the same institution to validate the Google Forms platform that comprises the registry questionnaire. RESULTS Data can be entered online and stored in the cloud. The database allows the acquisition and storage of epidemiological and clinical data, detection of patterns, and evaluation of the current treatment of children with childhood glaucoma. The data from multiple centers can be combined as collection in online and storage is in the cloud. The form is comprehensive and includes social data, gestational history, family history, clinical data on entering the center, and the treatment received. CONCLUSIONS Google Forms is a useful tool for collecting and analyzing statistical data, facilitating the process of registering patients, and analyzing information. Using the online questionnaire, it will be possible to create a multicenter online database that allows identification of risk factors and evaluation of the outcome of interventions and treatment.PURPOSE The aim is creation of a database to register patients diagnosed with childhood glaucoma. Information collection and storage will utilize a digital platform that permits multiple centers to register patients. This registry will be an important tool to evaluate and group patient profiles, thus allowing identification of risk factors, estimating prevalence, and recruiting participants in future studies. METHODS An online form was designed at the Department of Ophthalmology and Visual Sciences of the Federal University of São Paulo to create a registry of patients diagnosed with congenital glaucoma. In addition, a pilot study was conducted in the same institution to validate the Google Forms platform that comprises the registry questionnaire. RESULTS Data can be entered online and stored in the cloud. The database allows the acquisition and storage of epidemiological and clinical data, detection of patterns, and evaluation of the current treatment of children with childhood glaucoma. The data from multiple centers can be combined as collection in online and storage is in the cloud. The form is comprehensive and includes social data, gestational history, family history, clinical data on entering the center, and the treatment received. CONCLUSIONS Google Forms is a useful tool for collecting and analyzing statistical data, facilitating the process of registering patients, and analyzing information. Using the online questionnaire, it will be possible to create a multicenter online database that allows identification of risk factors and evaluation of the outcome of interventions and treatment.

Aqueous misdirection syndrome in persistent fetal vasculature (PFV)

We report a case of a 5-year-old girl with persistent fetal vasculature who presented with unilateral acute angle closure caused by aqueous misdirection syndrome that was apparently associated with regression of cycloplegia. Initial treatment with topical steroids, anti-glaucomatous drops, and atropine showed insufficient control of the intraocular pressure (IOP). Surgical treatment with lensectomy and vitrectomy resulted in satisfactory IOP control and no complications at the 6-month follow-up.

Análise da camada de fibras nervosas da retina com GDx™: validade diagnóstica em glaucoma primário de ângulo aberto e suspeitos de glaucoma

Purpose: to analyze the diagnostic power of the GDx™ Scanning Laser System in primary open angle glaucoma (POAG) and glaucoma suspects. Methods: 77 POAG patients (142 eyes) with characteristic visual field loss, 40 normal subjects and 36 glaucoma suspects (72 eyes) with intraocular pressure (IOP) above 20 and below 25 mmHg with normal visual fields were submitted to GDx™ Scanning Laser System examinations. Sensitivity, specificity, likelihood ratio and pre- and post-test probabilities were calculated. Results: Considering abnormal the presence of at least one parameter out of normal limits, 82.5% specificity and 90.1% of sensitivity between glaucomatous and normals were found. Likelihood ratio was 5.1 and pre-test and post-test probabilities were 63.9% and 90% respectively. Between suspects and normals specificity was 82.5% and sensitivity 33.3%. Likelihood ratio was 1.9 and pretest and post-test probabilities were 8.5% and 15% respectively. Conclusion: The GDx™ Scanning Laser System presented significant diagnostic power to differentiate glaucomatous from normal eyes. The examination showed low performance to differentiate glaucoma suspects from normals.

Análise da pressão intra-ocular após ceratectomia fotorrefrativa com excimer laser

Objetivo: Comparar os valores pre-operatorios da pressao intra-ocular (Po) com os valores pos-operatorios em pacientes submetidos a ceratectomia fotorrefrativa com excimer laser, bem como, avaliar os efeitos do uso de corticosteroide topico na Po nesse grupo.Pacientes e metodos: Foram analisados retrospectivamente 122 pacientes submetidos a ceratectomia fotorrefrativa com excimer laser para correcao de miopia, no periodo de fevereiro de 1994 a dezembro de 1996. Esse grupo teve sua Po tomada com o tonometro de aplanacao de Goldmann no pre-operatorio, 30o e 60o dias e sexto mes pos-operatorio. Receberam cuidados pos-operatorios padronizados, incluindo o uso de corticosteroide topico.Resultados: Foi observado um aumento estatisticamente significante em relacao aos valores pre-operatorios nas medias da Po no 30o dia pos-operatorio, ao passo que no pos-operatorio de seis meses obteve-se diminuicao estatisticamente significante nos valores medios da Po em relacao ao pre-operatorio.Conclusao:Nas fases iniciais do periodo pre-operatorio, observou-se um aumento da Po possivelmente relacionado ao uso de corticosteroides. Apos 6 meses, os valores da Po foram estatisticamente menores que os pre-operatorios.

Equivalente esférico e valores da espessura da camada de fibras nervosas obtidas com o GDX TM Scanning Laser System

Objetivo: Estudar a influencia do equivalente esferico nos valores obtidos pelo GDXTM Scanning Laser System®. Metodos: Foram avaliados 41 olhos de 41 voluntarios sem doencas oculares e com campo visual sem alteracoes. Foi realizada a polarimetria de varredura a laser com o GDXTM Scanning Laser System® de acordo com as instrucoes contidas no manual do aparelho. Foram comparados os valores obtidos nesse exame em um grupo de pacientes com equivalente esferico positivo e em um outro com este valor nulo ou negativo, pelo teste de Mann-Whitney. Resultados: Nao se verificou diferenca estatistica entre os valores obtidos nos olhos de pacientes do grupo I e os do grupo II. Nao foi encontrada correlacao entre o equivalente esferico e os valores obtidos com o GDXTM Scanning Laser System®. Conclusoes: Na amostra estudada nao houve diferenca estatistica entre os valores obtidos em um grupo de olhos com equivalente esferico positivo e outro com este valor negativo ou nulo, usando-se o GDXTM Scanning Laser System®.