非综合征性OTX2相关模式变:一个为期10年的多式成像研究.
Prathiba Ramakrishnan1, Matthew K Kenworthy1, Jonathan A Alexis1
1Ocular Tissue Engineering Laboratory, Lions Eye Institute, Nedlands, WA, Australia.
Documenta ophthalmologica. Advances in ophthalmology
|July 18, 2024
概括
Orthodenticle Homeobox 2 (OTX2) 相关的模式变症在10年内显示出稳定的疾病,具有独特的多式成像研究结果. 这种罕见的疾病涉及色素性斑点病变和视神经头部变化,没有危及视力的并发症.
科学领域:
- 眼科医生 眼科 眼科
- 遗传学 遗传学 是一个
- 医疗成像医学成像
背景情况:
- 牙直视器Homeobox 2 (OTX2) 基因突变与各种发育障碍有关,包括罕见的模式缩症.
- 了解OTX2相关模式变症需要详细的多式成像和长期临床随访.
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