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This study aims to systematically assess the retest reliability and ability to detect a change of new visual function tests and ophthalmological imaging methods for observing the natural course of pseudoxanthoma elasticum (PXE).
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| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| No intervention | Other | According to clinical practice. |
| Measure | Description | Time Frame |
|---|---|---|
| Change in the rate of rod-mediated dark-adaptation at the leading disease front (i.e., change in the rod-intercept time [RIT in min] per year) | Two years from Baseline |
| Measure | Description | Time Frame |
|---|---|---|
| Change in Bruch's membrane reflectivity | Two years from Baseline | |
| Change in choriocapillaris loss | Two years from Baseline | |
| Change in steady-state rod and cone sensitivity |
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Inclusion Criteria:
Exclusion Criteria:
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The study will include subjects with PXE and PXE-mimicking ocular phenotypes.
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| Name | Affiliation | Role |
|---|---|---|
| Kristina Pfau, MD | University Hospital, Basel, Switzerland | Study Director |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| University Hospital Basel | Basel | Canton of Basel-City | CH-4031 | Switzerland |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 33090206 | Background | Hess K, Gliem M, Charbel Issa P, Birtel J, Muller PL, von der Emde L, Herrmann P, Holz FG, Pfau M. Mesopic and Scotopic Light Sensitivity and Its Microstructural Correlates in Pseudoxanthoma Elasticum. JAMA Ophthalmol. 2020 Dec 1;138(12):1272-1279. doi: 10.1001/jamaophthalmol.2020.4335. | |
| 31834130 | Background |
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| ID | Term |
|---|---|
| D011561 | Pseudoxanthoma Elasticum |
| ID | Term |
|---|---|
| D020141 | Hemostatic Disorders |
| D014652 | Vascular Diseases |
| D002318 | Cardiovascular Diseases |
| D006474 | Hemorrhagic Disorders |
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| Two years from Baseline |
| Hess K, Gliem M, Birtel J, Muller P, Hendig D, Andrews C, Murray IJ, Holz FG, Charbel Issa P. IMPAIRED DARK ADAPTATION ASSOCIATED WITH A DISEASED BRUCH MEMBRANE IN PSEUDOXANTHOMA ELASTICUM. Retina. 2020 Oct;40(10):1988-1995. doi: 10.1097/IAE.0000000000002689. |
| 38815804 | Background | Pfau K, Lengyel I, Ossewaarde-van Norel J, van Leeuwen R, Risseeuw S, Leftheriotis G, Scholl HPN, Feltgen N, Holz FG, Pfau M. Pseudoxanthoma elasticum - Genetics, pathophysiology, and clinical presentation. Prog Retin Eye Res. 2024 Sep;102:101274. doi: 10.1016/j.preteyeres.2024.101274. Epub 2024 May 28. |
| 39913163 | Result | Pfau K, Ansari G, Michels S, Dysli C, Liakopoulos S, Burghaus-Zhang J, Al-Sheikh M, Garweg JG, Quinodoz M, Kaminska K, Cancellieri F, Rivolta C, Terry SF, Feltgen N, Pfau M. Topography of Slowed Dark Adaptation in Pseudoxanthoma Elasticum: PROPXE Study Report 1. Invest Ophthalmol Vis Sci. 2025 Feb 3;66(2):17. doi: 10.1167/iovs.66.2.17. |
| 41230901 | Derived | Giger JAW, Ansari G, Terry SF, Charbel Issa P, Pfau K, Pfau M; PROPXE Study Group. Measurement Reliability and Functional Validity of Bruch's Membrane Calcification in Pseudoxanthoma Elasticum: PROPXE Study Report 2. Invest Ophthalmol Vis Sci. 2025 Nov 3;66(14):29. doi: 10.1167/iovs.66.14.29. |
| D006402 |
| Hematologic Diseases |
| D006425 | Hemic and Lymphatic Diseases |
| D012868 | Skin Abnormalities |
| D000013 | Congenital Abnormalities |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D012873 | Skin Diseases, Genetic |
| D030342 | Genetic Diseases, Inborn |
| D003240 | Connective Tissue Diseases |
| D017437 | Skin and Connective Tissue Diseases |
| D012871 | Skin Diseases |