Weleber Richard G, Watzke Robert C, Shults William T, Trzupek Karmen M, Heckenlively John R, Egan Robert A, Adamus Grazyna
Casey Eye Institute, Department of Ophthalmology, Oregon Health & Science University, 3375 SW Terwilliger Boulevard, Portland, OR 97239, USA.
Am J Ophthalmol. 2005 May;139(5):780-94. doi: 10.1016/j.ajo.2004.12.104.
Paraneoplastic and autoimmune retinopathies are immunologically mediated retinal degenerations that are associated with antibodies directed against any of several retinal proteins, including alpha-enolase. We report the clinical and electrophysiological features of antienolase retinopathy in contrast to the features of antirecoverin retinopathy.
Retrospective, observational case series.
Patients were referred for evaluation of unexplained acquired visual symptoms, including photopsias, and loss of visual acuity or field considered of possible retinal origin. Full-field and multifocal electroretinograms (ERGs) were performed. Sera from patients were examined for antiretinal antibodies by Western blot analysis using proteins extracted from human retinas and by immunohistochemistry; antienolase was confirmed by incubating patient sera with purified alpha-enolase.
Of 87 patients with unexplained retinal visual symptoms associated with abnormal ERGs, 37 (43%) demonstrated autoantibodies to retinal antigens, including 12 against alpha-enolase, of whom 4 had cancer. Initial visual loss was typically central and often asymmetric. The ERGs demonstrated mostly normal rod responses but central cone abnormalities (evident on multifocal ERG) and, for many, global cone abnormalities. Seven patients developed optic disk pallor. Corticosteroid and immunosuppressive therapy, when attempted, was clinically ineffective.
Antienolase retinopathy is a protean autoimmune retinopathy that characteristically presents with cone dysfunction. The visual impairment and course vary from relative stability for years to slow progression with loss of central vision. With time, optic disk pallor can evolve, presumably from attrition of ganglion cells.
副肿瘤性和自身免疫性视网膜病变是免疫介导的视网膜变性，与针对几种视网膜蛋白（包括α-烯醇化酶）中任何一种的抗体相关。我们报告抗烯醇化酶视网膜病变的临床和电生理特征，并与抗恢复蛋白视网膜病变的特征进行对比。
回顾性观察病例系列。
患者因评估不明原因的获得性视觉症状（包括闪光感）以及可能源于视网膜的视力或视野丧失而前来就诊。进行了全视野和多焦视网膜电图（ERG）检查。通过使用从人视网膜中提取的蛋白质进行蛋白质印迹分析以及免疫组织化学检查患者血清中的抗视网膜抗体；通过将患者血清与纯化的α-烯醇化酶孵育来确认抗烯醇化酶。
在87例伴有异常ERG的不明原因视网膜视觉症状患者中，37例（43%）显示出针对视网膜抗原的自身抗体，其中12例针对α-烯醇化酶，4例患有癌症。最初的视力丧失通常为中心性，且常不对称。ERG显示大多数患者的视杆反应正常，但中心视锥细胞异常（在多焦ERG上明显），许多患者还存在整体视锥细胞异常。7例患者出现视盘苍白。尝试使用皮质类固醇和免疫抑制疗法时，临床效果不佳。
抗烯醇化酶视网膜病变是一种具有多种表现的自身免疫性视网膜病变，其特征性表现为视锥细胞功能障碍。视力损害和病程各不相同，从数年的相对稳定到中心视力丧失的缓慢进展。随着时间推移，视盘苍白可能会发展，推测是由于神经节细胞的损耗所致。
