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与双性LRAT基因突变相关的Fundus Albipunctatus:一个病例报告与长期随访
Wendy D Tan1, J Vernon Odom1, Monique Leys1
1Department of Ophthalmology and Visual Sciences, West Virginia University School of Medicine, Morgantown, WV 26506, USA.
Journal of clinical medicine
|November 25, 2023
概括
在患有LRAT基因突变的患者中,发现了一种罕见的先天性静止夜盲的罕见原因 - - Fundus albipunctatus (FAP). 这扩大了FAP的已知遗传原因.
科学领域:
- 眼科医生 眼科 眼科
- 医学遗传学 医学遗传学
- 视网膜疾病 视网膜疾病
背景情况:
- 点 (FAP) 是一种罕见的先天性静止夜盲 (CSNB) 形式.
- 临床表现包括严重的夜盲,光恐惧症和特征性的 fundus 发现.
- 之前对FAP的遗传关联没有包括LRAT基因.
研究的目的:
- 在一个年轻的女性患者身上提交FAP病例报告.
- 在这个病人身上调查FAP的遗传基础.
- 扩大对导致FAP的遗传因素的理解.
主要方法:
- 长度临床评估超过23年.
- 眼科成像和电网膜学 (ERG).
- 基因检测用于识别相关基因中的突变.
主要成果:
- 患者表现出经典的FAP表型,视力敏度保持.
- ERG结果与CSNB一致,表明杆功能受损.
- 基因分析揭示了LRAT基因 (c.197G>A和c.557A>C) 中的两个新的双基误解突变.
结论:
- 本案例报告确定了LRAT基因突变作为FAP的潜在原因.
- 这些发现扩大了先天性静止夜盲的遗传谱.
- 需要进一步的研究来阐明LRAT在FAP病变发生中的作用.
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