Murro Vittoria, Mucciolo Dario Pasquale, Giorgio Dario, Sodi Andrea, Boraldi Federica, Quaglino Daniela, Virgili Gianni, Giansanti Fabrizio
Department of Neuroscience, Psychology, Drug Research and Child Health, University of Florence, Florence, Italy.
Careggi Teaching Hospital, Florence, Italy.
Graefes Arch Clin Exp Ophthalmol. 2020 Sep;258(9):1881-1892. doi: 10.1007/s00417-020-04748-y. Epub 2020 May 22.
To evaluate the retinal features of elderly patients affected by pseudoxanthoma elasticum (PXE).
This is a retrospective case series of 62 eyes of 31 elderly PXE patients (age > 50 years). Clinical data, ultra-widefield fundus imaging (color, red-free (RF), infra-red imaging (IR), fundus autofluorescence (FAF)), and OCT examinations were collected. Diagnosis was confirmed by genetic testing or skin biopsy.
Thirty-one patients (10 males and 21 females (mean age 61.3 years, range 50-74 years)) were included in our study. Visual acuity ranged from 20/20 Snellen equivalent to 20/200. The mean follow-up was 66.4 ± 20.7 months (range 10-88). Pattern dystrophy-like changes (PD) (52 eyes of 26 patients, 83.8%) and atrophy resembling the "diffuse trickling" pattern described in geographic atrophy were present in the majority of patients. Twenty-three eyes of 12 patients (67.6%) had peripapillary atrophy, 9 eyes of 5 patients (26.4%) macular atrophy, 6 eyes of 3 patients (17.6%) displayed posterior pole atrophy and in 6 eyes of 3 patients (17.6%), atrophy could be detected beyond the vascular arcades (mid-peripheral atrophy). End-stage atrophy covered the entire area indicated as "coquille d'oeuf" (eggshell). Choroidal neovascularization occurred in 49 eyes of 26 patients (94.2%) with PD and in 6 eyes of 3 patients (60%) without PD. Genetic examinations were available for 29 patients (29/31, 93.5%).
The elderly PXE patients were characterized by pattern dystrophy-like changes with more or less extensive atrophy, progressive over time, which in some cases affected the whole area of the coquille d'oeuf during the course of the disease.
评估患有弹性假黄瘤（PXE）的老年患者的视网膜特征。
这是一项回顾性病例系列研究，纳入了31例老年PXE患者（年龄>50岁）的62只眼。收集了临床数据、超广角眼底成像（彩色、无赤光（RF）、红外成像（IR）、眼底自发荧光（FAF））以及光学相干断层扫描（OCT）检查结果。通过基因检测或皮肤活检确诊。
我们的研究纳入了31例患者（10例男性和21例女性，平均年龄61.3岁，范围50 - 74岁）。视力范围从Snellen视力表相当于20/20到20/200。平均随访时间为66.4±20.7个月（范围10 - 88个月）。大多数患者存在类似图案营养不良样改变（PD）（26例患者的52只眼，83.8%）以及类似于地图样萎缩中描述的“弥漫性细流”模式的萎缩。12例患者的23只眼（67.6%）有视乳头周围萎缩，5例患者的9只眼（26.4%）有黄斑萎缩，3例患者的6只眼（17.6%）表现为后极部萎缩，3例患者的6只眼（17.6%）在血管弓以外可检测到萎缩（中周部萎缩）。终末期萎缩覆盖了整个标记为“蛋壳”的区域。26例有PD的患者中的49只眼（94.2%）以及3例无PD的患者中的6只眼（60%）发生了脉络膜新生血管。29例患者（29/31，93.5%）可进行基因检测。
老年PXE患者的特征为具有或多或少广泛萎缩的类似图案营养不良样改变，随时间进展，在疾病过程中某些情况下会累及整个“蛋壳”区域。
