一个患有TTC21B突变二次性膜病变12相关性视网膜病变的患者视觉质量的病例报告
Francisco de Asís Bartol-Puyal1,2,3, Beatriz Cordón4,5,6, Elisa Viladés4,5
1Ophthalmology department, Miguel Servet University Hospital, Paseo Isabel La Católica, 1-3 50009, Zaragoza, Spain. franbarpuy@unizar.es.
Documenta ophthalmologica. Advances in ophthalmology
|November 27, 2024
概括
腎不全12是一種罕見的遺傳性疾病,可能導致嚴重網膜病變和視力損失. 这一案例凸显了特定基因突变与严重视力损伤之间的关联,影响了生活质量.
科学领域:
- 眼科医生 眼科 眼科
- 遗传学 是一个遗传学.
- 医学案例报告 病例报告
背景情况:
- 腎不全12是一種罕見的遺傳性疾病.
- 之前的报道仅记录了两起与视网膜病变相关联的病例.
- 本研究介绍了第三个报告的病例,也是第一个进行全面视力质量检查的病例.
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