施瓦赫曼 - 钻石综合征与形形变相关
Jingwen Zhang1, Thales A C de Guimaraes1,2, Dorothy Thompson3
1UCL Institute of Ophthalmology, University College London, London, United Kingdom.
Retinal cases & brief reports
|March 4, 2024
概括
施瓦赫曼-戴蒙德综合征 (SDS) 患者可能会患上严重的棒形缩症. 这份病例报告详细介绍了一名16岁的女性,患有SDS和视力损失,在10年内呈现缓慢进展.
科学领域:
- 眼科医生 眼科 眼科
- 遗传学 是一个遗传学.
- 血液学 血液学 血液学
背景情况:
- 施瓦赫曼-戴蒙德综合征 (SDS) 是一种罕见的自体相衰退性疾病.
- 在SDS患者中,眼部表现,特别是视网膜变,越来越多地被识别出来.
- 杆状形缩症 (RCD) 是受影响个体视力障碍的重要原因.
研究的目的:
- 报告一个Shwachman-Diamond综合征病例与同时发生的棒形变.
- 描述这个患者的长期视觉结果和视网膜变化.
- 强调眼科监测在SDS中的重要性.
主要方法:
- 追溯的单一案例报告.
- 眼科检查包括视觉敏度 (VA),光学连贯性断层扫描 (OCT), fundus 自流光 (FAF),闪电网红图 (fERG) 和图案视觉唤起潜力 (pVEP).
- 10年的随访期. 10年的随访期.
主要成果:
- 一名患有SDS的16岁女性呈现出严重的杆状缩症和减少的VA.
- 海外国与地区发现了渐进的外视网膜稀疏和圆形区域的破坏.
- FAF显示普遍的低自流和一个周围环的超自流.
- fERG证实了严重的杆状形变;pVEP表明了一些保存的黄斑通路功能障碍.
结论:
- 施瓦赫曼 - 戴蒙德综合征可以呈现出严重的早期发病的杆状形缩症.
- 在10年内观察到视网膜变化的缓慢解剖进展.
- 保持了相对功能性黄斑的保存,支持双边的VA为6/36.
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