RESUMO
Oculocutaneous albinism (OCA) is a genetic disease caused by disorders in melanin synthesis or distribution. In this descriptive study conducted in a tertiary care pediatric hospital, patients with a clinical diagnosis of OCA and genetic study were retrospectively recruited and underwent dermatological and ophthalmological exam, including optical coherence tomography (OCT) and digital dermoscopy. Our findings revealed milder OCA phenotypic expression in individuals harboring single pathogenic mutations in conjunction with polymorphisms, as well as in those with mutations of uncertain significance. Regardless OCA subgroup, severe phenotypes of OCA were associated with a higher number of mutations/polymorphisms in melanin biosynthesis genes and paler dermoscopic patterns, such as vascular pattern, which was the most common pattern in our series.
Assuntos
Albinismo Oculocutâneo , Melaninas , Humanos , Criança , Melaninas/genética , Estudos Retrospectivos , Mutação , Fenótipo , Albinismo Oculocutâneo/genética , Albinismo Oculocutâneo/diagnóstico , Albinismo Oculocutâneo/patologiaRESUMO
No disponible
Assuntos
Humanos , Feminino , Pessoa de Meia-Idade , Retinite/diagnóstico por imagem , Retinite/tratamento farmacológico , Doenças Retinianas/diagnóstico por imagem , Doxiciclina/uso terapêutico , Rifampina/uso terapêutico , Retinite/complicações , Retina , Retina/diagnóstico por imagem , Retina/lesões , Tomografia de Coerência Óptica/métodos , Acuidade VisualRESUMO
No disponible
Assuntos
Humanos , Uveíte/classificação , Cegueira/epidemiologia , Padrões de Prática Médica , Coriorretinopatia Serosa Central/epidemiologia , Infecções por Herpesviridae/complicações , Tuberculose Ocular/complicaçõesRESUMO
Fundamento y objetivos: Estudios norteamericanos han encontrado asociación entre pars planitis y el antígeno leucocitario humano (HLA) DR15. Esta situación no está aclarada en la población española. Los objetivos del presente estudio fueron la descripción de los datos clínicos y epidemiológicos en pacientes con pars planitis de nuestra área y determinar la frecuencia de esclerosis múltiple y HLA tipo I y II. Pacientes y método:De 226 pacientes con uveítis valorados desde enero de 1992 hasta octubre de 2005 en el servicio de oftalmología de nuestro centro, 24 cumplieron criterios diagnósticos de pars planitis. Se realizó estudio de HLA I y II a los 24 pacientes y a 194 controles sanos.Resultados: La complicación más frecuente fue el edema macular quístico. La mayoría de pacientes precisó varios tratamientos médicos. No se encontró asociación estadísticamente significativa entre nuestros pacientes y el HLA.Conclusiones: Los datos epidemiológicos coinciden con estudios previos. Parece no existir asociación entre el HLA tipo I y II con la pars planitis en nuestra población. No obstante, el pequeño tamaño de la muestra podría limitar el poder de este estudio (AU)
Background and objectives: Epidemiological studies on North American patients reported an association between HLA DR15 and pars planitis. This association has not been studied in the Spanish population. The objectives of the present study were to describe the clinical and epidemiological features of patients with pars planitis diagnosed in our hospital as well as the prevalence of multiple sclerosis and HLA class I and II.Patients and Methods: Twenty four patients with pars planitis were identified among 226 patients with uveitis diagnosed in the Ophtahlmology Department of our center from January 1992 to October 2006. Twenty four patients and 194 healthy controls underwent HLA A, B and DR genotyping.Results: The most frequent complication was cystic macular edema. Most patients needed many medical treatments. No statistical association was found between pars planitis and HLA.Conclusions: Epidemiological data were consistent with previously reported studies. There appears to be no association between the occurrence of pars planitis and HLA DR 15 or other known HLA genotypes in Spanish patients. However, the small sample size could have limited the power of this study (AU)
Assuntos
Humanos , Uveíte/genética , Pars Planite/epidemiologia , Antígeno HLA-A1/análise , Antígeno HLA-A2/análise , Estudos de Casos e ControlesRESUMO
BACKGROUND AND OBJECTIVES: Epidemiological studies on North American patients reported an association between HLA DR15 and pars planitis. This association has not been studied in the Spanish population. The objectives of the present study were to describe the clinical and epidemiological features of patients with pars planitis diagnosed in our hospital as well as the prevalence of multiple sclerosis and HLA class I and II. PATIENTS AND METHODS: Twenty four patients with pars planitis were identified among 226 patients with uveitis diagnosed in the Ophtahlmology Department of our center from January 1992 to October 2006. Twenty four patients and 194 healthy controls underwent HLA A, B and DR genotyping. RESULTS: The most frequent complication was cystic macular edema. Most patients needed many medical treatments. No statistical association was found between pars planitis and HLA. CONCLUSIONS: Epidemiological data were consistent with previously reported studies. There appears to be no association between the occurrence of pars planitis and HLA DR 15 or other known HLA genotypes in Spanish patients. However, the small sample size could have limited the power of this study.
