Electrophysiological characteristics and gene analysis of children with congenital stationary night blindness without fundus abnormalities

QI Dongmei; HUO Shujia; ZHOU Xu; YU Tao

doi:10.16016/j.2097-0927.202507102

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Electrophysiological characteristics and gene analysis of children with congenital stationary night blindness without fundus abnormalities

Clinical Medicine | 更新时间：2025-12-25

- Electrophysiological characteristics and gene analysis of children with congenital stationary night blindness without fundus abnormalities
- Journal of Army Medical University Vol. 47, Issue 20, Pages: 2540-2547(2025)
- 作者机构：
  
  陆军军医大学（第三军医大学）第一附属医院眼科/西南医院眼科，重庆
- 作者简介：
- 基金信息：
- DOI：10.16016/j.2097-0927.202507102
  CLC： R394.1;R591.412;R770.43
- Received：29 July 2025，
  
  Revised：2025-10-17，
  
  Accepted：19 October 2025，
  
  Published：30 October 2025
- 稿件说明：
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齐冬梅，霍姝佳，周序，等.正常眼底型先天性静止性夜盲患儿的电生理特征与基因分析［J］.陆军军医大学学报，2025，47（20）：2540-2547.DOI：10.16016/j.2097-0927.202507102.

QI D M，HUO S J，ZHOU X，et al.Electrophysiological characteristics and gene analysis of children with congenital stationary night blindness without fundus abnormalities［J］.J Army Med Univ，2025，47（20）：2540-2547.DOI：10.16016/j.2097-0927.202507102.
齐冬梅，霍姝佳，周序，等.正常眼底型先天性静止性夜盲患儿的电生理特征与基因分析［J］.陆军军医大学学报，2025，47（20）：2540-2547.DOI：10.16016/j.2097-0927.202507102. DOI：

QI D M，HUO S J，ZHOU X，et al.Electrophysiological characteristics and gene analysis of children with congenital stationary night blindness without fundus abnormalities［J］.J Army Med Univ，2025，47（20）：2540-2547.DOI：10.16016/j.2097-0927.202507102. DOI：

摘要

目的

分析眼底正常型先天性静止性夜盲（congenital stationary night blindness，CSNB）患儿的电生理与基因检查结果。

方法

回顾性分析2019年8月至2025年3月经临床检查及基因检测确诊为CSNB的儿童，共11例纳入研究。分析其全视野视网膜电图（full-field electroretinogram，ffERG）特征及基因检查结果。

结果

11例患儿中男性10例，女性1例，年龄为（7.5±2.1）岁。患儿戴镜后矫正视力为0.48±0.11，验光结果中1例远视，余均为近视。眼底照相检查除高度近视表现为豹纹状改变外，余眼底未见明显异常。ffERG检查所有患儿暗视ERG 3.0/10.0的a波幅值正常或轻中度降低，b波振幅显著下降，b波和a波的振幅比<1，为负相波，属于CSNB Schubert-Bornschein波型。基因检测结果发现，11例患儿均携带致病性基因突变，其中6例为CACNA1F基因突变，2例为GPR179基因突变，2例为NYX基因突变，1例为GRM6基因突变。

结论

对于眼底表现正常但戴镜矫正视力低于正常的患儿，应尽早进行ffERG检查，排查CSNB，并结合基因检查进行确诊，有助于评估疾病的遗传性及其预后，提高早期发现机会，减少过度的弱视训练和治疗。

Abstract

Objective

To analyze the electrophysiological and genetic examination results of children with congenital stationary night blindness (CSNB) without fundus abnormalities.

Methods

A retrospective study was conducted on 11 children diagnosed with CSNB in our department from August 2019 to March 2025. Their full-field electroretinogram (ffERG) and the results of genetic testing were analyzed.

Results

Among the 11 patients

there were 10 males and 1 female

at a mean age of 7.5±2.1 years. In the optometry

1 patient had hyperopia and the other had myopia

and all of them obtained a corrected visual acuity of 0.48±0.11 after wearing glasses. In fundus photography examination

except for the leopard pattern changes in high myopia

no obvious abnormalities were found in the remaining fundus. In ffERG examination for all patients

the amplitude of the a-wave of scotopic ERG 3.0/10.0 was normal or slightly to moderately decreased

the amplitude of the b-wave was decreased significantly

and the amplitude ratio of the b-wave to the a-wave was <1

showing a negative-phase wave

which belonged to the CSNB Schubert-Bornschein waveform. The results of genetic test revealed that all the 11 patients carried pathogenic mutations

including 6 cases with CACNA1F mutations

2 cases with GPR179 mutations

2 cases with NYX mutations

and 1 case with GRM6 mutation.

Conclusion

For children with normal fundus manifestations but corrected visual acuity lower than normal after wearing glasses

ffERG examination should be carried out as soon as possible to screen for CSNB

and a diagnosis should be made in combination with genetic testing. This is helpful for evaluating the heredity and prognosis of the disease

increasing the chance of early detection

and reducing excessive amblyopia training and treatment.

关键词

Keywords

references

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