Abstract：
Inherited retinal dystrophies (IRD) are the leading cause of legal blindness in the working population. Cystic macular edema (CME) is one of the treatable causes of visual loss, affecting up to 50% of the patients. A bibliographic review has been carried out combining \"inherited retinal dystrophy\", \"retinitis pigmentosa\", \"macular oedema\" and a diagnostic-therapeutic protocol according to the levels of evidence and recommendations of the \"US Agency for Healthcare Research and Quality\". This protocol has been discussed in the monthly meetings of the XAREA DHR group with the participation of more than 25 ophthalmologists, creating a consensus document. The etiology of CME is multifactorial: dysfunction of the blood-retinal barrier, retinal pigment epithelium, and Müller cells, inflammation, and vitreous traction. OCT is the test of choice for the diagnosis and follow-up of CME associated with IRD. The drugs with the highest degree of scientific evidence are carbonic anhydrase inhibitors (IAC). Intravitreal corticosteroids, anti-VEGF, and vitrectomy with peeling of the internal limiting membrane do not have sufficient evidence. A treatment scheme is proposed for the CME in IRD in adults, another for pediatric patients and another for IRD and cataract surgery. Oral and topical IACs are effective in the treatment of CME secondary to IRD. Treatment with corticosteroids, anti-VEGF, and vitrectomy are second-line options. Randomized clinical trials are required to establish the therapeutic scale in these patients.
摘要：
遗传性视网膜营养不良(IRD)是劳动人口中合法失明的主要原因。囊性黄斑水肿（CME）是视力丧失的可治疗原因之一，影响高达50%的患者。结合“遗传性视网膜营养不良”进行了书目审查，“色素性视网膜炎”，“黄斑水肿”和根据“美国医疗保健研究和质量机构”的证据和建议水平的诊断治疗方案。该协议已在XAREADHR小组的每月会议上进行了讨论，超过25位眼科医生参加了会议，达成共识文件。CME的病因是多因素的：血-视网膜屏障的功能障碍，视网膜色素上皮,还有穆勒细胞,炎症,和玻璃体牵引.OCT是与IRD相关的CME的诊断和随访的首选测试。具有最高科学证据的药物是碳酸酐酶抑制剂（IAC）。玻璃体内皮质类固醇，抗VEGF,和玻璃体切割剥离内界膜没有足够的证据。针对成人IRD中的CME提出了一种治疗方案，另一个用于儿科患者，另一个用于IRD和白内障手术。口服和局部IAC可有效治疗IRD继发的CME。用皮质类固醇治疗，抗VEGF,玻璃体切除术是二线选择。需要进行随机临床试验以建立这些患者的治疗量表。
