Visual Acuity in Pseudoxanthoma Elasticum

Risseeuw, Sara; Norel, Jeannette Ossewaarde–van; Klaver, Caroline C W; Colijn, Johanna M.; Imhof, Saskia M.; Leeuwen, Redmer van

doi:10.1097/iae.0000000000002173

Cited by 31 publications

(24 citation statements)

References 34 publications

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“…Auto-antibodies have been described in patients with retinal degeneration, and other authors have suggested that they may form as a consequence of exposure of the immune system to retinal breakdown products. 5,6 It is unclear why this acute PXE-associated syndrome has not been described before, to my knowledge. The authors note there was a rare incidence (5%) of this acute retinopathy among their larger cohort of patients with PXE.…”

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confidence: 96%

Acute Retinopathy in Pseudoxanthoma Elasticum

et al. 2019

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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.

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confidence: 96%

Acute Retinopathy in Pseudoxanthoma Elasticum

et al. 2019

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“…Change in the intra-or subretinal fluid, which we defined to be signs of CNV activity, was graded as 'better', 'equal' or 'worse', based on an overall conclusion of all 25 B-scans as compared with the previous OCT-scan (as illustrated in Fig 1) In case of discrepancy, the major vote of the three graders was taken for both CNV activity and the change in CNV activity. Furthermore, the macular phenotype was assessed according to previously reported criteria and the eyes were categorized in four groups: atrophic, CNV lesions, mixed or no CNV or atrophy [5] .…”

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confidence: 99%

“…The latter results in BM breaks, socalled angioid streaks, which allow CNV to arise [2]. These cause visual impairment at a relatively young age [5] . Up to now, no causal treatment for PXE exists.…”

Section: Introductionmentioning

confidence: 99%

The effect of etidronate on choroidal neovascular activity in patients with pseudoxanthoma elasticum

et al. 2020

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To assess the effect of the bisphosphonate etidronate on choroidal neovascular (CNV) activity in patients with pseudoxanthoma elasticum (PXE). Methods This is an ancillary study in a single center, randomized, double-blind placebo-controlled trial (RCT) in which 74 patients with PXE were assigned to either one-year etidronate or placebo treatment. Spectral domain optical coherence tomography (SD-OCT) imaging and color fundus photography were performed every three months for one year and were systematically assessed on signs of CNV activity. Results In the etidronate group, 11 (30%) of the patients had CNV activity at baseline, compared to 25 (67%) of the patients in the placebo group (P = 0.005). The proportion of eyes with CNV activity during the study ranged from 18-33% in the etidronate group and 42-56% in the placebo group and no significant difference in improvement or worsening of CNV activity was found (P = 0.168). Using a generalized mixed model for repeated measures, there was a protective effect of etidronate in crude analysis (RR 0.86, 95% CI 0.75-0.98) that disappeared when adjusting for baseline CNV activity (RR 0.97, 95% CI 0.84-1.13). Conclusion In this post-hoc RCT analysis we did not observe a protecting or deteriorating effect of etidronate on CNV activity in patients with PXE after adjustment for baseline CNV.

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“…Ocular manifestations of PXE present most frequently with angioid streaks, that lead to choroidal neovascularization (CNV) which may associate with oedema, bleeding, chorioretinal atrophy and scars, and consequently loss of central vision [12,13]. The fragmentation of the elastic fibers and the calcification of the lamina elastica of the medium-sized arteries are behind the cardiovascular manifestations of PXE.…”

Section: Introductionmentioning

confidence: 99%

Autofluorescence Imaging of the Skin Is an Objective Non-Invasive Technique for Diagnosing Pseudoxanthoma Elasticum

et al. 2021

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Pseudoxanthoma elasticum (PXE) is a rare multisystemic autosomal recessive connective tissue disease. In most cases, skin manifestations of PXE are the first to develop, followed later by severe ocular and cardiovascular complications. In our present study, in addition to dermoscopy, we introduced novel techniques, autofluorescence (AF) and diffuse reflectance (DR) imaging for the assessment of affected skin sites of five PXE patients. PXE-affected skin areas in most skin sites showed a previously observed pattern upon dermoscopic examination. With the novel imaging, PXE-affected skin lesions displayed high AF intensity. During our measurements, significantly higher mean, minimum and maximum AF intensity values were found in areas of PXE-affected skin when compared to uninvolved skin. Conversely, images acquired with the use of 660 and 940 nm illumination showed no mentionable difference. Our results demonstrate that AF imaging may be used in the in vivo diagnostics and quantification of the severity of the skin lesions of PXE patients. In addition, it is a safe, fast and cost-effective diagnostic method. AF imaging may be also used to objectively monitor the efficacy of the possible novel therapeutic approaches of PXE in the future.

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Visual Acuity in Pseudoxanthoma Elasticum

Cited by 31 publications

References 34 publications

Acute Retinopathy in Pseudoxanthoma Elasticum

Acute Retinopathy in Pseudoxanthoma Elasticum

The effect of etidronate on choroidal neovascular activity in patients with pseudoxanthoma elasticum

Autofluorescence Imaging of the Skin Is an Objective Non-Invasive Technique for Diagnosing Pseudoxanthoma Elasticum

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