ReviewProgress in retinal and eye research2024
Pseudoxanthoma elasticum - Genetics, pathophysiology, and clinical presentation.
Review in Progress in retinal and eye research, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT05662085 (Progression Rate of Pseudoxanthoma Elasticum-associated Choroidal and Retinal Degeneration), which is not on this map. Cited by 25 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
Progression Rate of Pseudoxanthoma Elasticum-associated Choroidal and Retinal Degeneration
Who cites it
25 citing papers in PubMed.
- Retinal Features and Preserved Vision in ENPP1 Deficiency: Long-Term Insights from Multimodal Imaging and Electrophysiology.International journal of molecular sciences · 2026Article
- Clinical characteristics of angioid streaks in Japanese patients.Japanese journal of ophthalmology · 2026Observational
- ABCC6 in Cellular Metabolic Homeostasis: Biochemical Links to Extracellular Nucleotide Signaling, Mitochondrial Stress, and Senescence.Cell biochemistry and biophysics · 2026Review
- Rotator cuff calcifications in pseudoxanthoma elasticum: a comparative analysis of prevalence and anatomical distribution.Skeletal radiology · 2026Article
- Review
- Nonfamilial Pseudoxanthoma Elasticum: A Case Report With Review of Selected Literature.Clinical case reports · 2026Article
- Lipodermatosclerosis-like clinical presentation with PXE-like histopathology in a patient with newly diagnosed vascular Ehlers-Danlos syndrome.JAAD case reports · 2026Article
- The liver regulates ectopic calcification in Abcc6-deficient models of pseudoxanthoma elasticum.The Journal of clinical investigation · 2026Article
- Severe Hypertension and Hematologic Abnormalities in Pseudoxanthoma Elasticum: A Pediatric Case Report.Journal of clinical hypertension (Greenwich, Conn.) · 2026Article
- [Clinical and genetic aspects of inherited retinal dystrophies : Phenotypic and molecular characterization of 1000 IRD patients in a German tertiary referral center].Die Ophthalmologie · 2026Article
- [Angioid Streaks are not a diagnosis: why diagnostic evaluation must go beyond lesion description].Die Ophthalmologie · 2026Article
- Outer retinal tubulation associated with photoreceptor degeneration.Progress in retinal and eye research · 2026Review
- Review
- ABCC6-Related Left Ventricular Papillary Muscle Calcification.JACC. Case reports · 2025Article
- Measurement Reliability and Functional Validity of Bruch's Membrane Calcification in Pseudoxanthoma Elasticum: PROPXE Study Report 2.Investigative ophthalmology & visual science · 2025Article
- A Fragile Phosphate/Pyrophosphate Balance: From Essential Mineralization to Rare Calcifying Diseases.Current osteoporosis reports · 2025Review
- 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
- Threads of Elasticity: A Single Variant Journey Through Pseudoxanthoma Elasticum's Clinical Maze.Cureus · 2025Article
- Abaloparatide-induced pseudoxanthoma elasticum.JAAD case reports · 2025Article
- [Ocular alterations in pseudoxanthoma elasticum : The eye as a window to diagnosing a systemic disease].Die Ophthalmologie · 2025Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors.
Funding
Abstract
Pseudoxanthoma elasticum (PXE) is an autosomal-recessively inherited multisystem disease. Mutations in the ABCC6-gene are causative, coding for a transmembrane transporter mainly expressed in hepatocytes, which promotes the efflux of adenosine triphosphate (ATP). This results in low levels of plasma inorganic pyrophosphate (PPi), a critical anti-mineralization factor. The clinical phenotype of PXE is characterized by the effects of elastic fiber calcification in the skin, the cardiovascular system, and the eyes. In the eyes, calcification of Bruch's membrane results in clinically visible lesions, including peau d'orange, angioid streaks, and comet tail lesions. Frequently, patients must be treated for secondary macular neovascularization. No effective therapy is available for treating the cause of PXE, but several promising approaches are emerging. Finding appropriate outcome measures remains a significant challenge for clinical trials in this slowly progressive disease. This review article provides an in-depth summary of the current understanding of PXE and its multi-systemic manifestations. The article offers a detailed overview of the ocular manifestations, including their morphological and functional consequences, as well as potential complications. Lastly, previous and future clinical trials of causative treatments for PXE are discussed.
Indexed as
Identifiers
What Socratic holds
Registered trials
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 Socratic graph.