在詹森甲基细胞冠状腺的眼睛发现
Fiona Obiezu1, M Teresa Magone De Quadros Costa2, Laryssa A Huryn2
1Skeletal Disorders & Mineral Homeostasis Section, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD 20892, United States.
JBMR plus
|August 7, 2024
概括
詹森形状形肌 (JMC) 患者经常表现出眼睛问题,包括与骨底部缩小相关的视神经损伤. 定期的眼科检查对于早期发现和管理这些危及视力的并发症至关重要.
科学领域:
- 眼科医生 眼科 眼科
- 遗传学 是一个遗传学.
- 儿科内分泌学 儿科内分泌学
背景情况:
- 詹森形状性肌性肌 (JMC) 是一种极为罕见的遗传性疾病.
- 它源于生殖线异构的*PTHR1*变体,导致构成性副甲状腺激素1型受体的激活.
- 眼部表现的JMC还没有得到很好的描述.
研究的目的:
- 综合报道詹森甲基细胞性肌肉扩张症患者的眼部发现.
- 调查眼睛异常与面变化之间的关联,特别是视通道狭窄.
主要方法:
- 六名患有JMC的患者接受了详细的眼科评估.
- 方法包括光谱域光学连贯性断层扫描 (OCT),视野测试和面CT扫描.
主要成果:
- 大多数患者的视力敏度很好,但常见的发现包括眼睛间距很大,眼裂向下倾斜.
- 一名患者患有视神经缩,视网膜神经纤维层变薄,视通道变窄.
- 在OCT上减少视网膜质细胞层分析 (GCA) 在4/6名患者中表明亚临床视神经缩.
结论:
- 联合眼科医院患者有显著的眼部发现,特别是由于头骨底部骨过度生长而导致视通道狭窄.
- 可能会出现渐进的视神经病变,OCT GCA 作为潜在的生物标志物.
- 建议对JMC患者进行定期的眼科检查,包括OCT和成像.
关键词:
双酸二位酸盐的使用方法骨头过度生长 骨头过度生长头骨面部缺陷 头骨面部缺陷神经纤维层缩 神经纤维层缩视力缩的光学缩视通道缩小 视通道缩小视神经病变是一种视神经病变.视力损失 视力损失视野缺陷 视野缺陷 视野缺陷更多相关视频
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