ArticleFrontiers in genetics2013
An update on the ocular phenotype in patients with pseudoxanthoma elasticum.
Article in Frontiers in genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT02108392 (Characterization of Patients With Pseudoxanthoma Elasticum), which is not on this map. Cited by 56 papers, 2 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Characterization of Patients With Pseudoxanthoma Elasticum
Who cites it
56 citing papers in PubMed, 2 syntheses or guidelines pooled it, 139 citations in OpenAlex.
- GGCX-Associated Phenotypes: An Overview in Search of Genotype-Phenotype Correlations.International journal of molecular sciences · 2017Pooled it
- β-Thalassemia and ocular implications: a systematic review.BMC ophthalmology · 2016Pooled it
- Aflibercept for choroidal neovascularizations secondary to pseudoxanthoma elasticum: a prospective study.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2020Trial
- The effect of etidronate on choroidal neovascular activity in patients with pseudoxanthoma elasticum.PloS one · 2020Trial
- Clinical characteristics of angioid streaks in Japanese patients.Japanese journal of ophthalmology · 2026Observational
- Review
- Intraocular Pressure After Anti-Vascular Endothelial Growth Factor Injection in Eyes With a Mineralized Bruch's Membrane Caused by Pseudoxanthoma Elasticum.Investigative ophthalmology & visual science · 2025Article
- [Pseudoxanthoma elasticum-Novel therapeutic approaches on the horizon?]Die Ophthalmologie · 2025Review
- [Ocular alterations in pseudoxanthoma elasticum : The eye as a window to diagnosing a systemic disease].Die Ophthalmologie · 2025Review
- Managing Choroidal Neovascularization in Pseudoxanthoma Elasticum: Outcomes of Vitrectomy and Intravitreal Ranibizumab/Aflibercept Therapy-A Case Report.Case reports in ophthalmological medicine · 2025Article
- Choroidal measurements in patients affected by PXE-related retinopathy.Frontiers in ophthalmology · 2025Article
- Pseudoxanthoma elasticum - Genetics, pathophysiology, and clinical presentation.Progress in retinal and eye research · 2024Review
- [Ischemic stroke in a patient with pseudoxanthoma elasticum and carotid rete mirabile].Der Nervenarzt · 2024Article
- Pseudoxanthoma elasticum-associated angioid streaks near a scleral buckle.American journal of ophthalmology case reports · 2024Article
- Angioid Streaks Remain a Challenge in Diagnosis, Management, and Treatment.Vision (Basel, Switzerland) · 2024Review
- Role of elastic fiber degradation in disease pathogenesis.Biochimica et biophysica acta. Molecular basis of disease · 2023Review
- Choriocapillaris Flow Signal Impairment in Patients With Pseudoxanthoma Elasticum.Investigative ophthalmology & visual science · 2023Article
- Various vascular malformations are prevalent in Finnish pseudoxanthoma elasticum (PXE) patients: a national registry study.Orphanet journal of rare diseases · 2022Article
- The complexity of visual dysfunction in patients with pseudoxanthoma elasticum.Eye (London, England) · 2022Article
- Pulmonary affection of patients with Pseudoxanthoma elasticum: Long-term development and genotype-phenotype-correlation.Intractable & rare diseases research · 2022Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Pseudoxanthoma elasticum (PXE) is an inherited multi-system disorder characterized by ectopic mineralization and fragmentation of elastic fibers in the skin, the elastic laminae of blood vessels and Bruch's membrane in the eye. Biallelic mutations in the ATP-binding cassette (ABC) transporter gene ABCC6 on chromosome 16 are responsible for the disease. The pathophysiology is incompletely understood. However, there is consent that a metabolic alteration leads to dysfunction in extracellular calcium homeostasis and subsequent calcification of connective tissues rich in elastic fibers. This review summarizes and aims at explaining the variety of phenotypic ocular findings in patients with PXE. Specialized imaging techniques including white light fundus photography, blue light autofluorescence, near-infrared confocal reflectance imaging, high resolution optical coherence tomography, fluorescein and indocyanine green (ICG) angiography have revealed characteristic lesions at the ocular fundus of PXE patients. These include the classic signs of angioid streaks, peau d'orange, comet lesions, and choroidal neovascularizations (CNVs), but also the more recently recognized features such as chorioretinal atrophy, subretinal fluid independent from CNV, pattern dystrophy-like changes, debris accumulation under the retinal pigment epithelium, reticular drusen and a decreased fluorescence on late phase ICG angiography.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.