Acute Retinopathy in Pseudoxanthoma Elasticum
Acute Retinopathy in Pseudoxanthoma Elasticum
复制标题
DOI：
10.1001/jamaophthalmol.2019.2910
复制
发表时间：
2019-10-01
影响因子：
8.1
通讯作者：
Issa, Peter Charbel
中科院分区：
文献类型：
--
作者：
Gliem, Martin;Birtel, Johannes;Issa, Peter Charbel
重要性急性视网膜病变可以部分解释弹性假黄瘤(PXE)患者的各种疾病表现和视力丧失。对这种可能的自身免疫过程的诊断可能会为患者提供咨询和治疗方法。目的将PXE患者的急性视网膜病变描述为一种可能与严重视力障碍相关的疾病表现。设计、背景和参与者这一单中心病例系列于2013年5月至2018年10月进行。它使用了波恩大学眼科的患者数据库，波恩大学是德国PXE的转诊中心。该中心经基因确认的PXE患者符合纳入标准(n=9)。患者接受了多模式视网膜成像，包括眼底照相、眼底自体荧光(AF)、光学相干断层扫描(OCT)、荧光素血管成像(FA)和吲哚青绿血管成像(ICGA)；在选定的病例中，还使用了视网膜电图以及抗视网膜和抗视网膜色素上皮(RPE)抗体检测。主要结果和衡量临床表现和病程的指标。结果在167例PXE患者中发现9例急性视网膜病变(女性8例，平均年龄43[19-55岁])。症状从轻度感觉或视力变形到严重的视力丧失。6例患者(67%)视力下降，最佳矫正视力为20/30，出现手部运动感觉。所有患者均表现出特征性的眼底特征，在后极部暂时出现部分融合的视网膜外白点，这对应于眼底房颤的强自体荧光区域，OCT上椭球带的丢失，以及相关的暗点。FA和晚期ICGA成像显示相关的强荧光和低蓝光。视网膜电描记术显示波幅有不同程度的降低。有随访数据的8名患者中，有3名在1个月内完全可逆。在其余5名患者中，有3名患者存在长期且可能的永久性视力丧失(观察期1-个月)，主要原因是视网膜下中央反射物质起源于血管样条纹。在6例患者中，有4例(67%)检测到抗视网膜和/或抗RPE抗体。结论PXE患者可发生急性视网膜病变，症状包括短期的可逆性改变和不可逆性视力丧失；这些发现有助于了解PXE的可变眼疾病进展情况，并为了解PXE后极部的自身免疫现象提供见解。
IMPORTANCE Acute retinopathy may partly explain variable disease manifestation and vision loss in patients with pseudoxanthoma elasticum (PXE). The diagnosis of this likely autoimmune process may inform patient counseling and treatment approaches.OBJECTIVE To characterize acute retinopathy in patients with PXE as a disease manifestation that may be associated with profound visual impairment.DESIGN, SETTING, AND PARTICIPANTS This single-center case series was conducted from May 2013 to October 2018. It used the patient database of the Department of Ophthalmology at the University of Bonn, a referral center for PXE in Germany. Patients at this center with genetically confirmed PXE and who met the inclusion criteria were included (n=9). Patients underwent multimodal retinal imaging, including fundus photography, fundus autofluorescence (AF), optical coherence tomography (OCT), fluorescein angiography (FA), and indocyanine green angiography (ICGA); in select cases, electroretinography as well as antiretinal and anti-retinal pigment epithelium (RPE) antibody testing were also used.MAIN OUTCOMES AND MEASURES Clinical presentation and disease course.RESULTS Nine patients (8 [89%] female; mean [range] age, 43 [19-55] years) with acute retinopathy were identified in a cohort of 167 consecutive patients with PXE (frequency of 5%). Symptoms ranged from light sensations or metamorphopsia to profound vision loss. Visual acuity was reduced in 6 patients (67%), ranging from a best-corrected visual acuity of 20/30 to perception of hand movements at manifestation. All patients revealed characteristic fundus features with temporary appearance of partly confluent outer retinal whitish dots at the posterior pole, which corresponded to areas of hyperautofluorescence on fundus AF, loss of the ellipsoid band on OCT, and associated scotomata. The FA and late-phase ICGA imaging showed associated hyperfluorescence and hypocyanescence. Electroretinography revealed a variable reduction of amplitudes. Changes were fully reversible within 1 month in 3 of 8 patients with available follow-up data. Of the remaining 5 patients, 3 had a prolonged and likely permanent vision loss (observation period, 1-64 months) mainly owing to central subretinal hyperreflective material originating from angioid streaks. In 4 (67%) of 6 tested, antiretinal and/or anti-RPE antibodies were detected.CONCLUSIONS AND RELEVANCE Acute retinopathy in patients with PXE may occur, with symptoms ranging from short-term, reversible alterations to irreversible vision loss; these findings contribute to understanding the variable ocular disease progression in PXE and provide insights into the autoimmune phenomena of the posterior pole.