关键词: Childhood glaucoma registry Congenital glaucoma Consanguinity Genetic examination Questionnaire

Mesh : Child Germany Glaucoma / diagnosis epidemiology genetics Humans Intraocular Pressure Pilot Projects Prospective Studies Registries

来  源:   DOI:10.1186/s13104-022-05921-8

Abstract:
OBJECTIVE: The aim of this prospective pilot study is to establish an initial database to register patients diagnosed with different types of childhood glaucoma and the set-up of a national registry for childhood glaucoma (ReCG) in Germany. 28 children with different types of diagnosed childhood glaucoma, who were admitted and treated at the Childhood Glaucoma Center of the University Medical Center Mainz, Germany were included. Main outcome measures were the type of childhood glaucoma, mean intraocular pressure (IOP) and genetic data of the patients.
RESULTS: The documents and questionnaires for each individual included: informed consent form of the parents, medical history form of the child, patient\'s gestational history questionnaire and general anesthesia examination form. Primary congenital and secondary childhood glaucoma were revealed in 11 (39%) and 17 (61%) patients, respectively. The mean IOP measured with Perkins tonometer in all patients under general anesthesia at the time of inclusion was 17.5 ± 11.8 mmHg in the right and 17 ± 8.9 mmHg in the left eyes. In 33% of children with glaucoma mutations in the CYP1B1, FOXC1, LTBP2 and TEK genes were found. The development of specific questionnaires for childhood glaucoma provides detailed baseline data to establish a ReCG in Germany for the first time.
摘要:
目的:这项前瞻性试点研究的目的是建立一个初始数据库,以登记诊断为不同类型的儿童青光眼的患者,并在德国建立儿童青光眼国家注册中心(ReCG)。28名儿童患有不同类型的儿童青光眼,在美因茨大学医学中心的儿童青光眼中心入院并接受治疗,包括德国。主要结局指标是儿童青光眼的类型,患者的平均眼内压(IOP)和遗传数据。
结果:每个人的文件和问卷包括:父母的知情同意书,孩子的病史表格,患者妊娠史调查表和全身麻醉检查表。11例(39%)和17例(61%)患者发现原发性先天性和继发性儿童期青光眼,分别。在纳入时,所有全身麻醉患者的Perkins眼压计测量的平均IOP在右侧为17.5±11.8mmHg,在左眼为17±8.9mmHg。在33%的青光眼患儿中发现了CYP1B1,FOXC1,LTBP2和TEK基因的突变。针对儿童青光眼的特定问卷的开发提供了详细的基线数据,以首次在德国建立ReCG。
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