面肩肱型肌营养不良(FSHD)是一种临床表现多样的遗传性肌病。除累及肌肉外,还累及全身多个系统,其中视网膜病变常被忽视。约1%的FSHD患者因未能及时发现视网膜血管病变而导致最终失明。FSHD伴发视网膜病变,如类似Coats病血管改变的机制尚不明确,普遍认为此两者存在必然联系。多数学者建议对FSHD患者进行早期眼底检查,必要时作眼底荧光血管造影术,以便早期诊断、早期治疗视网膜病变,减少失明率。着眼于发病机制,尤其是致病基因定位的研究,以及在明确基因突变位点后寻找相应的调控物质或抑制转录分子将是今后的研究热点。 Facial and Shoulder Brachial Muscular Dystrophy (FSHD) is a hereditary myopathy with a variety of clinical manifestations. In addition to involving the muscles, but also involving the whole body more than one system, of which retinopathy is often overlooked. About 1% of FSHD patients fail to detect retinal vascular lesions in time, leading to eventual blindness. The mechanism of FSHD associated with retinopathy, such as vascular changes similar to Coats disease, is not clear, and it is generally accepted that there is a necessary relationship between the two. Most scholars recommend early fundus examination of patients with FSHD, fundus fluorescein angiography if necessary, so that early diagnosis, early treatment of retinopathy, reduce the blindness rate. Focusing on the pathogenesis, especially the study of pathogenic gene localization, as well as looking for the corresponding regulatory substances or inhibiting the transcriptional molecules after locating the gene mutation sites, will be the hot topics in the future.