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[原发性青少年青光眼——临床与遗传学方面]

[Primary juvenile glaucoma--clinical and genetic aspects].

作者信息

Bărăscu Doina, Olaru C, State Anca

机构信息

Clinica de Oftalmologie, Spitalul de Urgenţă Craiova.

出版信息

Oftalmologia. 2004;48(2):98-101.

Abstract

PURPOSE

We have done a retrospective study of juvenile glaucoma cases hospitalized between 1993-2002.

MATERIAL AND METHOD

52 primary juvenile glaucoma patients were available for our clinical and genealogical investigations.

RESULTS

In this study we have analyzed the distribution of cases per year, the age of appearance of the diseases, and the distribution in function of the sex and the genealogical factors. Genealogic analyze was performed by statistical methods: Weinberg and penetrance.

CONCLUSIONS

Under 16 years, juvenile glaucoma diagnosis was mostly established by examining the children for visual acuity disorders caused by different ametropies, especially progressive rapid myopia. Genealogical exams confirmed an autosomal recessive transmission with incomplete variable penetrance but the possibility of polygenic multifactorial heredity may be also considered.

摘要

目的

我们对1993年至2002年间住院的青少年青光眼病例进行了回顾性研究。

材料与方法

52例原发性青少年青光眼患者可供我们进行临床和系谱研究。

结果

在本研究中,我们分析了每年的病例分布、疾病出现的年龄以及性别和系谱因素作用下的分布情况。系谱分析采用统计学方法:温伯格法和外显率法。

结论

16岁以下青少年青光眼的诊断大多是通过检查儿童因不同屈光不正引起的视力障碍,尤其是进行性快速近视来确定的。系谱检查证实为常染色体隐性遗传,外显率不完全可变,但也可能考虑多基因多因素遗传的可能性。

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