Lege Artis Medicinae

[The Genious of Pilinszky ]

CZEIZEL Endre

SEPTEMBER 20, 2012

Lege Artis Medicinae - 2012;22(08-09)

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[Systemic diseases in pseudoexfoliation syndrome]

HOLLÓ Gábor

[Pseudoexfoliation syndrome is a condition associated with the production and accumulation of a pathological protein (pseudoexfoliation material). Originally, the syndrome was recognised on the basis of its intraocular symptoms and had been considered to be an isolated eye disease for a long time. However, some 20 years ago it became clear that in pseudoexfoliation syndrome pseudoexfoliation material is present all over in the body. In the past decade, vascular dysfunction associated with this syndrome has been also recognised. Recent studies have shown that pseudoexfoliation syndrome is caused by genetic alterations affecting a lysil oxidaselike (LOXL) protein, LOXL1. LOXL1 has an important role in the synthesis of extracellular material. To our current knowledge, pseudoexfoliation syndrome is a systemic elastosis associated with oxidative stress. Its complications are in part ocular (development of nuclear cataract, zonular damage and development of pseudoexfoliative glaucoma) and in part systemic (dysfunction of capillaries, muscular and elastic arteries, impairment of baroreflex function, increase of arterial rigidity, development of aorta aneurism, recurrent venous occlusions and neurosensory hearing loss). Despite the recognition of the above complications, currently it is not possible to set guidelines of a potential cardiovascular screening for patients with pseudoexfoliation syndrome, since the frequency and significance of systemic complications vary across different populations.]

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