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在患有先天性静止夜盲的儿科患者中描述折射误差:一项多中心研究

Austin D Igelman¹, Elizabeth White¹, Alaa Tayyib²

¹Oregon Health and Science University Casey Eye Institute, Portland, Oregon, USA.

The British journal of ophthalmology

|July 30, 2024

概括

出生性静止夜盲 (CSNB) 患者在出生时表现出显著的近视,并逐渐恶化. 了解这种近视的进展对于开发未来的治疗方法来减缓其进展至关重要.

科学领域:

眼科医生眼科眼科
遗传学是一个遗传学.
视网膜疾病视网膜疾病

背景情况:

先天性静止夜盲 (CSNB) 是一种遗传的视网膜疾病,经常与高近视有关.
像CACNA1F,NYX和TRPM1这样的基因中的致病变体是CSNB的常见原因.
高近视增加了视网膜退化和脱落的风险,强调了需要管理其在CSNB患者的进展.

研究的目的:

研究CSNB患者近视进展的自然史.
根据不同的致病基因型 (CACNA1F,NYX,TRPM1) 分析近视性进展模式.
在CSNB患者中建立潜在的近视减缓干预措施的基线理解.

主要方法:

采用了多中心的回顾性研究设计.
包括患有CSNB (CACNA1F,NYX或TRPM1变体) 的患者,在18岁之前至少进行了六次折射误差测量.
一个混合效应模型分析了随时间和基因型之间的折射 (SER) 渐进的球体等价值.

主要成果:

分析了78名个人.
所有CSNB基因型在出生时都表现出显著的近视 (SER范围从-3.076D到-5.386D).
在所有基因型中观察到每年显著的近视进展,每年发生率从-0.254D到-0.326D不等.

结论:

在CSNB患者中出现早期近视,随着年龄的增长而恶化.
这些发现支持在早期近视的差异诊断中考虑CSNB.
对CSNB患者进行进一步的研究和潜在的长期近视控制治疗是有必要的.

关键词:

儿童健康 (儿科)遗传学遗传学遗传学是一个

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