先天性微:描述一个家庭中的3例病例
P Merino1, A Fuentes1, P Gómez de Liaño1
1Sección de Motilidad Ocular y Diplopía, Servicio de Oftalmología, Hospital General Universitario Gregorio Marañón, Madrid, Spain.
Archivos de la Sociedad Espanola de Oftalmologia
|May 26, 2025
概括
先天性微 (MCOR) 是一种罕见的遗传眼睛疾病,导致小瞳孔. 这项研究将MCOR与GPR180基因删除联系起来,影响虹膜扩张器肌肉的发育.
科学领域:
- 眼科医生 眼科 眼科
- 遗传学 遗传学 是一个
- 发展生物学 发展生物学
背景情况:
- 先天性微 (MCOR) 是一种罕见的眼睛异常,由小于2毫米的瞳孔定义,对水剂无反应.
- MCOR表现为自体衰退 (皮尔森综合征) 和自体主导的孤立形式,通常与近视和青光眼有关.
关键词:
生产中的微,是先天的.在13号染色体上删除了GPR180基因.在13号染色体上删除GPR180基因.眼光障碍 眼光障碍 眼光障碍 眼光障碍这种病原体是Microcoria congénita.近视近视近视近视近视近视近视近视近近视近视近视近视近视近视近视近视近视近视近视近视近视近视近视近视近视近视近视近视近视近视近视近视近视近视近视近视近视近视近视近视近视近视近视近视近视近视近视近视近视近更多相关视频
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