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两例与CRB1相关的视网膜缩病例与视网膜质量相关
Nicholas R Bello1, Phattrawan Pisuchpen1,2, Thales A C de Guimarães3,4
1Pediatric Ophthalmology and Ocular Genetics, Wills Eye Hospital, Philadelphia, Pennsylvania.
Retinal cases & brief reports
|October 30, 2023
概括
CRB1突变可以导致各种视网膜表型,包括独特的hamartomas. 在CRB1相关的视网膜衰变中识别这些特定的视网膜瘤可以避免错误诊断瘤.
科学领域:
- 眼科医生 眼科 眼科
- 遗传学 是一个遗传学.
- 医疗成像医学成像
背景情况:
- CRB1基因的突变与视网膜缩有关,其临床表现各异.
- 与CRB1相关的视网膜变的表型多样性需要对眼部发现进行详细的描述.
研究的目的:
- 在患有CRB1相关视网膜缩症的儿童中描述两个不同的视网膜瘤表现.
- 突出CRB1突变可能表现为视网膜瘤的潜力.
主要方法:
- 案例报告两名无关儿童被诊断患有与CRB1相关的视网膜变.
- 综合眼科检查包括眼底镜,光学连贯性断层扫描 (OCT),光素血管学和眼底自光学.
主要成果:
- 一名患者呈现了表面视网膜质质体,在OCT上有被食的空间.
- 第二名患者患有化,表面视网膜瘤,在OCT上具有异质的内部结构.
- 这两种病变都显示出特定的自光模式.
结论:
- 与CRB1相关的视网膜缩症可以呈现为视网膜星状细胞瘤或其他表面视网膜瘤.
- 识别这些瘤是CRB1突变的表现,可以防止不必要的瘤检查.
- 这项研究扩大了已知的CRB1突变的表型谱.
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