Disk Drusen and Angioid Streaks in Pseudoxanthoma Elasticum

Coleman, Kate; Ross, Monique Hope; Cabe, Mary Mc; Coleman, Robert F.; Mooney, David J.

doi:10.1016/s0002-9394(14)76696-6

Cited by 39 publications

(12 citation statements)

References 20 publications

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“…The fact that we found drusen of the ONH in 4 eyes out of 16 from the 8 patients with angioid streaks but no PXE sug gests there may indeed be an association between these two findings, even in patients without PXE [8]. While this con firms the utility of ultrasound examination in investigating for ONH drusen in all patients in angioid streaks, it also sug gests certain points regarding the etiopathogenesis of the two clinical signs.…”

Section: Discussionsupporting

confidence: 53%

“…More than 90% of these patients present streaks [4,5], but the prevalence of drusen is reported as ranging from only 6% [6] to 16% [7], However, angioid streaks with drusen have recently been described in a patient with Waldenstrom's macroglobulinemia and it is conceivable that the two clinical signs may oc cur together in other diseases too [8],…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Echographic Diagnosis of Drusen of the Optic Nerve Head in Patients with Angioid Streaks

et al. 1994

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A total of 58 patients (116 eyes) with angioid streaks, referred to this department over 2 years (1990–1992), underwent a thorough ophthalmic examination, retinal fluorescein angiography, dermatological visit with skin biopsy, and a series of other examinations (blood and biochemistry, skull X-ray, vascular echo Doppler, abdominal ultrasound) and eye ultrasonography. Fifty patients (100 eyes, 86.2%) had pseudoxanthoma elasticum (PXE). In the whole caselist, 21.6% had drusen compared with 21.0% in the group with PXE. Both these findings are higher than those published elsewhere. Drusen of the optic nerve head were also found in 25% of the 16 eyes (8 patients) with angioid streaks but no PXE. We believe we found a higher prevalence of drusen of the optic nerve head in these patients with angioid streaks because we systematically employed ultrasound.

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Section: Discussionsupporting

confidence: 53%

Section: Introductionmentioning

confidence: 99%

Echographic Diagnosis of Drusen of the Optic Nerve Head in Patients with Angioid Streaks

et al. 1994

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“…Recurrent retinal hemorrhages, leading to progressive visual loss, are the most serious clinical features in PXE [18]. Hemorrhages are due to rupture of the small vessels formed as a consequence of mineralization and fragmentation of the elastic fibers in the Bruch's membrane [19]. In the present study, both light and electron microscopy analysis performed on the eye of case 2 revealed disruption of the Bruch's membrane by bulky mineral precipitates, which were only in part associated with elastic fibers.…”

Section: Discussionmentioning

confidence: 99%

Extracutaneous Ultrastructural Alterations in Pseudoxanthoma Elasticum

Gheduzzi

Sammarco

Quaglino

et al. 2003

Ultrastructural Pathology

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Pseudoxanthoma elasticum (PXE) is caused by mutations in the ABCC6 gene, encoding for the membrane transporter MRP6, whose physiological role is still unknown. PXE is characterized by skin, eye, and cardiovascular alterations mainly due to mineralization of elastic fibers. The ultrastructural alterations of a large number of tissues obtained at autopsy from 2 PXE patients were analyzed and compared to clarify the involvement of the various organs in PXE and to identify cell types responsible for clinical manifestations. Ultrastructural alterations typical of PXE were present in all organs examined and consisted mostly of fragmentation and mineralization of a number of elastic fibers, abnormalities of collagen fibril shape and size, and, less frequently, deposition of aggregates of matrix constituents in the extracellular space. The severity of alterations was more pronounced in the organs affected by the clinical manifestations of PXE. Interestingly, veins and arteries were similarly damaged, the adventitia and the perivascular connective tissue being the most affected areas. Therefore, alterations in PXE are systemic and affect all soft connective tissues, even in the absence of specific clinical manifestations. The localization of alterations suggests that fibroblasts and/or smooth muscle cells are very likely involved in the pathogenesis of the disorder. These findings may help in the diagnosis of PXE when clinical manifestations affect internal organs.

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“…When the condition is familial, optic disc drusen can be inherited either as an autosomal dominant trait characterized by incomplete penetrance and a variable expression [14], or as an autosomal recessive trait [15]. Optic disc drusen also can occur in association with angioid streaks, which are characterized by loss of pigmented epithelium with a consequent baring of the underlying choriocapillary layer, and disruption of Bruch's membrane [4]. Angioid streaks also have been found with mottled fundus [7,25,11], which can lead to the formation of angioid streaks [9].…”

Section: Introductionmentioning

confidence: 99%

“…Angioid streaks also have been found with mottled fundus [7,25,11], which can lead to the formation of angioid streaks [9]. Moreover, mottled fundus, angioid streaks, and optic disc drusen can be found in association with PXE [4,7,25]. PXE is due to mutations in the ABCC6 gene, which encodes a member of ATP-binding cassette (ABC) subfamily C [2,18,13].…”

Section: Introductionmentioning

confidence: 99%