Mrejen Sarah, Audo Isabelle, Bonnel Sébastien, Sahel José-Alain
Dev Ophthalmol. 2017;58:191-201. doi: 10.1159/000455281. Epub 2017 Mar 28.
Retinitis pigmentosa (RP) is a heterogeneous group of inherited retinal degenerations characterized by progressive degeneration of rod and cone cells that affects predominantly peripheral visual fields. Macular edema may cause additional central visual acuity decrease. Cystoid macular edema (CME) is one of the few treatable causes of visual loss in RP. The prevalence of CME in RP has been found to be between 10 and 20% on fluorescein angiography-based studies, and as high as 49% on reports based on optical coherence tomography. Macular edema can manifest at any stage of the disease and may be unilateral or bilateral. It can be found in any genetic form, but is more often associated with RP caused by CRB1 mutations. The origin of macular edema in RP patients still remains poorly understood. Some mechanisms have been suggested, including antiretinal antibodies (retinal, carbonic anhydrase, and enolase antibodies), vitreous traction, retinal pigment epithelium dysfunction, and Müller cell edema. There is no gold standard therapeutic strategy. Drug therapy is the primary treatment. Systemic carbonic anhydrase inhibitors, such as oral acetazolamide or topical dorzolamide, are still the mainstays of initial therapy. If CME is refractory to acetazolamide, intravitreal corticosteroid injections may be a therapeutic option. However, antivascular endothelium growth factor injections have limited effect and should be avoided. Vitrectomy has also been evaluated, but its exact role remains to be determined. The benefits of these therapies are variable among patients. The establishment of therapeutic approaches is limited by our poor understanding of the pathophysiology of CME in patients with RP. Autoimmune retinopathies (AIRs) are a group of rare diseases characterized by acute or subacute progressive vision loss and are thought to be mediated by autoantibodies specific to retinal antigens. The AIRs encompass paraneoplastic syndromes, such as cancer-associated retinopathy and melanoma-associated retinopathy, and a larger group of AIRs that have similar clinical and immunological findings but without underlying malignancy. These diseases may also be complicated by macular edema. RP is one of the most common forms of inherited retinal degeneration. It displays extensive clinical and genetic variations and leads to progressive blindness with variable onset.
视网膜色素变性（RP）是一组遗传性视网膜退行性疾病的统称，其特征是视杆细胞和视锥细胞进行性退化，主要影响周边视野。黄斑水肿可能会导致中心视力进一步下降。黄斑囊样水肿（CME）是视网膜色素变性导致视力丧失的少数可治疗病因之一。基于荧光素血管造影的研究发现，视网膜色素变性患者中CME的患病率在10%至20%之间，而基于光学相干断层扫描的报告中这一患病率高达49%。黄斑水肿可在疾病的任何阶段出现，可为单侧或双侧。它可出现在任何遗传形式中，但更常与由CRB1突变引起的视网膜色素变性相关。视网膜色素变性患者黄斑水肿的病因仍知之甚少。有人提出了一些机制，包括抗视网膜抗体（视网膜、碳酸酐酶和烯醇化酶抗体）、玻璃体牵拉、视网膜色素上皮功能障碍和Müller细胞水肿。目前尚无金标准治疗策略。药物治疗是主要治疗方法。全身用碳酸酐酶抑制剂，如口服乙酰唑胺或局部用多佐胺，仍然是初始治疗的主要手段。如果CME对乙酰唑胺治疗无效，玻璃体腔内注射皮质类固醇可能是一种治疗选择。然而，抗血管内皮生长因子注射效果有限，应避免使用。玻璃体切除术也已得到评估，但其确切作用仍有待确定。这些治疗方法对不同患者的疗效各异。由于我们对视网膜色素变性患者CME的病理生理学了解不足，治疗方法的建立受到限制。自身免疫性视网膜病（AIRs）是一组罕见疾病，其特征为急性或亚急性进行性视力丧失，被认为是由针对视网膜抗原的自身抗体介导的。自身免疫性视网膜病包括副肿瘤综合征，如癌症相关性视网膜病变和黑色素瘤相关性视网膜病变，以及一大组具有相似临床和免疫学表现但无潜在恶性肿瘤的自身免疫性视网膜病。这些疾病也可能并发黄斑水肿。视网膜色素变性是最常见的遗传性视网膜退行性疾病之一。它表现出广泛的临床和基因变异，并导致不同发病时间的进行性失明。
