Shaheen Abdulla R, Yannuzzi Nicolas A, Kennedy Thomas, Yannuzzi Lawrence A
Bascom Palmer Eye Institute, Miami, FL.
Albert Einstein College of Medicine, Bronx, NY; and.
Retin Cases Brief Rep. 2024 Jan 1;18(1):39-42. doi: 10.1097/ICB.0000000000001329.
To report bilateral retinal vascular occlusive disease in limb-girdle muscular dystrophy (LGMD).
Case report.
A 34-year-old Asian woman was referred for evaluation and management of central retinal vein occlusion. Ultra-wide-field fluorescein angiography showed resolving initial peripheral retinal vein occlusion in one eye and peripheral venular segmental staining in the fellow asymmetric eye. Genetic testing established the diagnosis of LGMD.
Similar to other forms of muscular dystrophy, LGMD is caused by genetic abnormalities in sarcolemma proteins, a key structural component that connects the intracellular cytoskeleton of a myofiber to the extracellular matrix. Like other muscular dystrophies, LGMD may be associated with retinal vascular abnormalities noted. In this case, retinal vascular smooth muscle dysfunction was seen in LGMD, analogous to reported vascular abnormalities in other muscular dystrophies such as facioscapulohumeral dystrophy and Duchenne muscular dystrophy.
报告肢带型肌营养不良（LGMD）中的双侧视网膜血管闭塞性疾病。
病例报告。
一名34岁的亚洲女性因中心视网膜静脉阻塞的评估和治疗前来就诊。超广角荧光素血管造影显示一只眼中最初的周边视网膜静脉阻塞正在消退，而另一只不对称眼中周边小静脉节段性染色。基因检测确诊为LGMD。
与其他形式的肌营养不良一样，LGMD由肌膜蛋白的基因异常引起，肌膜蛋白是将肌纤维的细胞内细胞骨架与细胞外基质连接起来的关键结构成分。与其他肌营养不良一样，LGMD可能与所观察到的视网膜血管异常有关。在本病例中，LGMD中可见视网膜血管平滑肌功能障碍，类似于面肩肱型肌营养不良和杜氏肌营养不良等其他肌营养不良中报告的血管异常。
