Supplementary Material for: Management of Coats-Like Disease in a Forty-Four-Year-Old Patient with FSHD Type I

A forty-four-year-old female patient known for FSHD type I, with unremarkable past ocular history, complained of progressive visual acuity deterioration during a routine ophthalmological visit. Best-corrected visual acuity (BCVA) was 1.0 decimal Snellen equivalent bilaterally. Dilated fundus examination showed evidence of retinal Coats-like disease in the left eye, while the right eye showed significant retinal vascular tortuosity. Multimodal examinations (OCT scans and FA-fluorescein angiography) revealed large areas of retinal ischemia, thus confirming a retinal vascular disorder compatible with the diagnosis of Coats-like disease. Left eye laser photocoagulation of the ischemic areas was performed to avoid neovascular complications that had not been detected during follow-up visits (12 months), and BCVA in the left eye remained stable at 1.0 decimals Snellen equivalent. Coats-like disease in a patient affected by FSHD type I should always be screened even in the absence of any prior ocular diseases. Guidelines concerning the ophthalmological management of adults affected by FSHD are lacking. Based on this case, we recommend performing a yearly complete ophthalmological checkup with dilated fundus examination and retinal imaging. Patients should, furthermore, be encouraged to seek medical attention when noticing deterioration of visual acuity or other visual symptoms in order to avoid missing potential sight-threatening ocular complications.

一例44岁女性面肩肱型肌营养不良1型（FSHD type I）患者，既往眼部病史无特殊，于常规眼科就诊时主诉视力进行性下降。双眼最佳矫正视力（Best-corrected visual acuity, BCVA）均为十进制斯内伦等效值1.0。散瞳眼底检查显示左眼存在寇茨样视网膜病变（Coats-like disease），右眼可见显著视网膜血管迂曲。多模式检查（光学相干断层扫描（OCT）与荧光素眼底血管造影（FA））显示存在大范围视网膜缺血，由此确诊为符合寇茨样病变表现的视网膜血管性疾病。遂对左眼缺血区域实施激光光凝术，以预防随访12个月期间未被检出的新生血管并发症；随访期间左眼最佳矫正视力稳定维持在十进制斯内伦等效值1.0。对于罹患面肩肱型肌营养不良1型的患者，即便无既往眼部疾病史，也应常规筛查寇茨样视网膜病变。目前尚无针对面肩肱型肌营养不良成人患者的眼科诊疗指南。基于本病例，我们建议每年为该类患者开展全面眼科检查，包含散瞳眼底检查与视网膜成像。此外，应叮嘱患者若出现视力下降或其他眼部症状时及时就医，以免遗漏可能威胁视力的眼部并发症。