Ebran J M, Martin L, Navasiolava N, Ferre M, Milea D, Leruez S
Ophthalmology Department, CHU Angers, Angers, France.
PXE Referral Center, Angers University Hospital, Angers, France.
Graefes Arch Clin Exp Ophthalmol. 2018 Apr;256(4):699-707. doi: 10.1007/s00417-018-3937-5. Epub 2018 Feb 26.
Pseudoxanthoma elasticum (PXE) is a rare autosomal recessive disorder caused by mutations in the ABCC6 gene, resulting in various retinal lesions, among other systemic manifestations. Visual loss may occur in PXE, most commonly caused by choroidal neovascularization and macular atrophy, but little is known about the consequences of fundus pulverulentus (FP) in PXE. The aim of this study was to evaluate ophthalmic outcomes in patients with FP associated with PXE in a large series of PXE patients.
In a retrospective observational study, ophthalmic outcomes were compared between two groups of age-matched patients with genetically and pathologically confirmed PXE: one group with FP versus one without FP. All included patients underwent thorough clinical examination. Further investigation (optical coherence tomography (OCT), Cirrhus, Zeiss Germany, and/or fluorescein/indocyanin green angiography) was performed in cases of suspected choroidal neovascularization (CNV).
The study included 13 PXE patients with FP (group 1: 8 men and 5 women, aged 45-65 years) and 47 age-matched PXE patients without FP (group 2: 19 men and 28 women). Mean patient follow-up was 63 months (range 0-132 months). Subretinal fibrosis (SRF) was more frequently associated with FP (9/26 eyes, 34.6%), compared to absence of FP (4/94, 4.2%) (p = 0.0001). Independently of SRF, FP can evolve into deep macular atrophy and/or CNV with dramatic consequences for central vision.
Fundus pulverulentus may occur in PXE and is most commonly associated with subretinal fibrosis in the posterior pole and visual loss by macular atrophy even in the absence of CNV.
弹性假黄瘤（PXE）是一种由ABCC6基因突变引起的罕见常染色体隐性疾病，除其他全身表现外，还会导致各种视网膜病变。PXE患者可能会出现视力丧失，最常见的原因是脉络膜新生血管形成和黄斑萎缩，但对于PXE中眼底粉状沉着症（FP）的后果知之甚少。本研究的目的是在一大系列PXE患者中评估与PXE相关的FP患者的眼科结局。
在一项回顾性观察研究中，比较了两组年龄匹配、经基因和病理证实为PXE的患者的眼科结局：一组有FP，另一组无FP。所有纳入的患者均接受了全面的临床检查。对于疑似脉络膜新生血管形成（CNV）的病例，进行了进一步检查（光学相干断层扫描（OCT），德国蔡司Cirrhus，和/或荧光素/吲哚菁绿血管造影）。
该研究纳入了13例患有FP的PXE患者（第1组：8名男性和5名女性，年龄45 - 65岁）和47例年龄匹配的无FP的PXE患者（第2组：19名男性和28名女性）。患者的平均随访时间为63个月（范围0 - 132个月）。与无FP（4/94，4.2%）相比，视网膜下纤维化（SRF）在有FP的患者中更常见（9/26眼，34.6%）（p = 0.0001）。与SRF无关，FP可发展为深层黄斑萎缩和/或CNV，对中心视力产生严重影响。
眼底粉状沉着症可能发生在PXE中，最常见的是与后极部视网膜下纤维化相关，即使在没有CNV的情况下，也会因黄斑萎缩导致视力丧失。
