New insights into the visual prognosis of pseudoxanthoma elasticum

Ebran, Jean‐Marc; Miléa, Dan; Trélohan, A.; Bonicel, P.; Hamel, Jean‐François; Lefthériotis, Georges; Martin, Ludovic

doi:10.1136/bjophthalmol-2013-303235

Cited by 9 publications

(3 citation statements)

References 4 publications

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“…Visual impairment is common in patients with PXE, and the visual acuity of the first eye often deteriorates around the fifth decade. 7,[26][27][28] Because most but not all patients with PXE develop CNV or macular atrophy, the visual prognosis varies and is difficult to predict for an individual. 7 For patients with PXE, the foresight of losing vision impacts their quality of life, emotional well-being, and decisions in life planning.…”

Section: In This Study We Developed a Measure For The Extentmentioning

confidence: 99%

The Extent of Angioid Streaks Correlates With Macular Degeneration in Pseudoxanthoma Elasticum

Risseeuw

Norel

Buchem

et al. 2020

American Journal of Ophthalmology

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PURPOSE: To investigate whether the extent of Bruch's membrane calcification is associated with choroidal neovascularization (CNV) and macular atrophy in patients with pseudoxanthoma elasticum (PXE) by using the extent of angioid streaks as a surrogate marker for the degree of Bruch's membrane calcification.DESIGN: Retrospective cross-sectional study. METHODS: We investigated 301 patients with PXE (median age, 52 years; range, 9-79 years) in a tertiary referral center. For both eyes, we graded the extent of angioid streaks, that is, their distance from the optic disc, into 5 groups. Imaging was systematically assessed for signs of CNV and macular atrophy. Associations between the extent of angioid streaks and CNV or macular atrophy were investigated using regression analysis.RESULTS: CNV was present in 148 patients (49%) and retinal atrophy in 71 patients (24%). The extent of angioid streaks was associated with older age (P for trend ¼ 1.92 3 10 L15 ) and a higher prevalence of CNV and/or macular atrophy (P for trend [ 4.22 3 10 L10 and P for trend [ 5.17 3 10 L6 , respectively). In addition, the extent of angioid streaks was associated with the presence of CNV when adjusted for age and sex (odds ratio, 1.9; 95% confidence interval, 1.3-2.9) and with more severe macular atrophy (proportional odds ratio, 2.3; 95% confidence interval, 1.5-3.6).CONCLUSIONS: In patients with PXE, longer angioid streaks are associated with an increased risk of CNV and macular atrophy, even after adjustment for age. These findings are relevant when counseling PXE patients on their visual prognosis.

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Section: In This Study We Developed a Measure For The Extentmentioning

confidence: 99%

The Extent of Angioid Streaks Correlates With Macular Degeneration in Pseudoxanthoma Elasticum

Risseeuw

Norel

Buchem

et al. 2020

American Journal of Ophthalmology

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“…PXE also affects retina, inducing fragmentation and rupture of calcified elastin fibers of the Bruch's membrane. The examination of the fundus of the eye reveals a typical "peau d'orange" aspect in PXE patients, with angioid streaks and choroidal neovascularization leading to hemorrhages [8,9]. When affecting the macula, these lesions lead to the loss of central vision.…”

Section: Clinical Manifestationsmentioning

confidence: 99%

“…To date, there is no specific curative or preventive therapy for PXE patients. Bisphosphonates such as Etidronate seem promising to prevent cardiovascular calcifications and anti-Vascular Endothelial Growth Factor (VEGF) intraocular injections limit neoangiogenesis [9,16,17].…”

Section: Clinical Manifestationsmentioning

confidence: 99%

Pseudoxanthoma Elasticum, Kidney Stones and Pyrophosphate: From a Rare Disease to Urolithiasis and Vascular Calcifications

Letavernier

Bouderlique

Martin

et al. 2019

IJMS

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Pseudoxanthoma elasticum is a rare disease mainly due to ABCC6 gene mutations and characterized by ectopic biomineralization and fragmentation of elastic fibers resulting in skin, cardiovascular and retinal calcifications. It has been recently described that pyrophosphate (a calcification inhibitor) deficiency could be the main cause of ectopic calcifications in this disease and in other genetic disorders associated to mutations of ENPP1 or CD73. Patients affected by Pseudoxanthoma Elasticum seem also prone to develop kidney stones originating from papillary calcifications named Randall’s plaque, and to a lesser extent may be affected by nephrocalcinosis. In this narrative review, we summarize some recent discoveries relative to the pathophysiology of this mendelian disease responsible for both cardiovascular and renal papillary calcifications, and we discuss the potential implications of pyrophosphate deficiency as a promoter of vascular calcifications in kidney stone formers and in patients affected by chronic kidney disease.

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Subretinal fibrosis is associated with fundus pulverulentus in pseudoxanthoma elasticum

Ebran

Martin

Leftheriotis

et al. 2018

Graefes Arch Clin Exp Ophthalmol

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New insights into the visual prognosis of pseudoxanthoma elasticum

Cited by 9 publications

References 4 publications

The Extent of Angioid Streaks Correlates With Macular Degeneration in Pseudoxanthoma Elasticum

The Extent of Angioid Streaks Correlates With Macular Degeneration in Pseudoxanthoma Elasticum

Pseudoxanthoma Elasticum, Kidney Stones and Pyrophosphate: From a Rare Disease to Urolithiasis and Vascular Calcifications

Subretinal fibrosis is associated with fundus pulverulentus in pseudoxanthoma elasticum

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