The clinical study presents the association between optic disc drusen and angioid streaks in the context of pseudoxanthoma elasticum, in 8.5% (4 from 47) of the cases. The values are significantly higher compared to those from the normal population (0.34%). This result can be the consequence of pathogenic correlations between the two diseases, in which a role is attributed to the metabolic changes within the pseudoxanthoma elasticum. The starting point seems to be the accumulation of polyanions in the elastin of the cribriform plate, followed by disruption of axonal transport, mitochondrial extrusion and subsequent formation of optic disc drusen.
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Ophthalmic Genet
December 2024
Department of Ophthalmology and Visual Sciences, University of Alabama at Birmingham Heersink School of Medicine, Birmingham, Alabama, USA.
J Clin Med
June 2024
Department of Ophthalmology, University of Bonn, 53127 Bonn, Germany.
Cureus
April 2024
Ophthalmology, Dalhousie University, Halifax, CAN.
Angioid streaks (AS) are recognized as irregular, linear dehiscences of Bruch's membrane, often associated with systemic diseases. We present the case of a 50-year-old woman initially diagnosed with AS during a routine optometric examination. Subsequent ophthalmological evaluation revealed bilateral AS with calcified drusen.
View Article and Find Full Text PDFOphthalmol Ther
October 2023
School of Medicine, Vita-Salute San Raffaele University, Milan, Italy.
Introduction: To describe subclinical angioid streaks (AS) as a frequent, peculiar age-related macular degeneration (AMD) phenotype, comparing features of eyes with subclinical AS with those of eyes with AMD without AS.
Methods: This was a retrospective, observational study. Among a patient cohort with AMD, we selected patients without known causes for AS whose eyes showed signs of angioid streaks (AS) on structural optical coherence tomography (OCT) but not on fundus examination.
Ophthalmic Genet
February 2024
Departments of Medical Genetics and Ophthalmology & Visual Sciences, University of Alberta, Edmonton, Canada.
Background: Pseudoxanthoma elasticum (PXE) is an autosomal recessive condition caused by mutations in the gene. Ocular features include angioid streaks, peau d'orange fundus, and drusen. We report a novel mutation causing PXE in a patient with a mixed phenotype of PXE and retinitis pigmentosa (RP).
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