阿克罗马托普西亚:长期视觉表现和临床特征
Yuval Margherita Eshel1, Ora Abaev2, Claudia Yahalom1,2
1Faculty of Medicine,Hebrew University of Jerusalem, Israel.
European journal of ophthalmology
|November 3, 2023
概括
阿克罗马托普西亚是一种遗传性眼睛疾病,在这个人群中最常见的原因是CNGA3基因变异. 青色人群的视力敏度似乎稳定,或可能随着年龄的增长而略有改善.
科学领域:
- 眼科医生 眼科 眼科
- 遗传学 是一个遗传学.
- 儿童视力障碍 儿童视力障碍
背景情况:
- 阿克罗马托普西亚是一种遗传的形功能障碍,导致色彩视力差,视力敏性降低,光恐惧症和眼.
- 它是儿童视力障碍的重要原因,全球患病率为3万分之一.
研究的目的:
- 详细介绍阿克罗马托普西亚的临床特征.
- 在被研究的人群中确定主要的致病基因.
- 分析疾病的进展,重点关注视觉功能的稳定性随时间推移.
主要方法:
- 一个回顾性分析的医疗记录从76个色斑症患者.
- 患者被分为年轻人 (<10岁) 和老年人 (≥10岁) 组.
- 一个长期随访的子组分析了与年龄相关的变化.
主要成果:
- 在73.6%的患者中发现了CNGA3基因变异,比全球报告的更高的流行率.
- 常见的临床症状包括光恐惧症 (96.2%),阴影 (93.6%),超视 (72.3%) 和偏视 (51.1%).
- 在整体队列中没有观察到与年龄相关的视力敏度下降,而一个子组则随着年龄的增长而略有改善.
结论:
- 与全球分布不同的是,CNGA3是该种群中与色素相关的主要基因.
- 光恐惧症,阴沉症和远视障碍是典型的发现.
- 病情似乎在临床上稳定,随着时间的推移,视力敏度可能会略有改善.
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