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视力低于正常的综合征(SVAS):瑞典12 - 13岁儿童的白化病

Subnormal visual acuity syndromes (SVAS): albinism in Swedish 12-13-year-old children.

作者信息

Sjöström A, Kraemer M, Ohlsson J, Villarreal G

机构信息

Queen Silvia 's Hospital for Children, Sahlgrenska University Hospital, Paediatric Eye Unit, Göteborg, Sweden.

出版信息

Doc Ophthalmol. 2001 Jul;103(1):35-46.

Abstract

BACKGROUND

The vision of 12-13-year-olds in Sweden was examined in a field study. The study was designed as being a part of a large European-Latin American study, the DESAMI project. The objective was to evaluate the prevalence of residual amblyopia and ocular disorders, atiologies of subnormal vision and some normal visual parameters in this group of children. The children had to be born in Sweden in 1985 in order to have the opportunity to be included in the voluntary screening visual examinations. The full results of the study will be presented elsewhere. This paper presents clinical and VEP data of those children who had visual acuity of 0.8 or below in one or both eyes which could not be increased with glasses, or other visual/eye disturbances not explained as common amblyopia, i.e., subnormal visual acuity or pathological visual states of unknown cause, SVAS (subnormal visual acuity syndromes).

SUBJECTS AND METHODS

In all, 1046 children were examined: 76 had visual disturbances of such severity that they were referred to a paediatric ophthalmologist (AS). Eighteen children could not be pathologically classified, and they were referred to another ophthalmological examination and VEP (visual evoked potential) recordings. VEP reveals an asymmetric response after monocular stimulation in albinism.

RESULTS

Twelve children turned up for a second examination and VEP was recorded from 10 children. Nine children showed iris translucency. Seven children showed an asymmetric VEP and were classified as albinos. The albinoic VEPs could be subdivided into two types, (1) including all parts of the response and (2) partly excluding the P1/P100 potential complex. The VEP response was normal, showing symmetry and no other abnormality, in three of the children.

CONCLUSIONS

The results indicate that albinism is common in Sweden. A prevalence value of approximately 1% is about 100 times higher than previous figures. This high prevalence may indicate another form of heredity, with genetical contribution to albinism from a varying number of albino genes and varying expression in the phenotypes, in the Scandinavian population. It is emphasised that in investigations of children with SVAS, electrophysiological examinations are important, not only to reveal albinism but also to exclude or verify neurometabolic conditions, for example.

摘要

背景

在一项实地研究中对瑞典12至13岁儿童的视力进行了检查。该研究被设计为一项大型欧洲 - 拉丁美洲研究(DESAMI项目)的一部分。目的是评估该组儿童中残余弱视和眼部疾病的患病率、视力低下的病因以及一些正常视觉参数。这些儿童必须于1985年在瑞典出生,才有机会被纳入自愿性视力筛查检查。该研究的完整结果将在其他地方发表。本文介绍了那些一只或两只眼睛视力在0.8或以下且无法通过眼镜提高视力的儿童,或存在未被解释为常见弱视的其他视觉/眼部障碍(即视力低下或病因不明的病理性视觉状态,SVAS,视力低下综合征)的儿童的临床和视觉诱发电位(VEP)数据。

对象与方法

总共检查了1046名儿童:其中76名儿童的视力障碍严重到需要转诊给儿科眼科医生(AS)。18名儿童无法进行病理分类,他们被转诊进行另一次眼科检查和VEP(视觉诱发电位)记录。VEP显示白化病患者单眼刺激后反应不对称。

结果

12名儿童前来进行第二次检查,对其中10名儿童记录了VEP。9名儿童表现出虹膜半透明。7名儿童表现出VEP不对称,被归类为白化病患者。白化病患者的VEP可分为两种类型,(1)包括反应的所有部分,(2)部分排除P1/P100电位复合体。3名儿童的VEP反应正常,表现出对称性且无其他异常。

结论

结果表明白化病在瑞典很常见。约1%的患病率比以前的数字高出约100倍。这种高患病率可能表明存在另一种遗传形式,在斯堪的纳维亚人群中,白化病有不同数量的白化病基因的遗传贡献以及在表型中的不同表达。需要强调的是,在对SVAS儿童的调查中,电生理检查很重要,例如不仅可以揭示白化病,还可以排除或验证神经代谢状况。

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