Exfoliation (pseudoexfoliation) syndrome (XFS, with or without glaucoma) is associated with clinically significant non-vascular systemic diseases.

The Science behind the Tip

Systemic vascular dysfunction in XFS patients and statistically significant associations of systemic diseases with XFS have been extensively studied in the last decades. Recently in the Utah project on exfoliation syndrome, a large database study, significant associations were found between exfoliation syndrome and the risk of pelvic organ prolapse in women (HR: 1.48); indirect inguinal hernia (HR: 12.32); chronic obstructive pulmonary disease (OR: 1.41); and obstructive sleep apnea (OR: 1.27). These associations have been linked with an associated dysfunction of the elastic fibers coded by the LOXL1 gene. Single nucleotide polymorphisms of the LOXL1 gene are strongly associated with exfoliation syndrome, which explains elastic fibers related dysfunction both in the eye and the whole body. Therefore, active enquiry about systemic non-vascular conditions and obstructive or apnea related symptoms are proposed in the routine clinical glaucoma practice when patients with exfoliation syndrome or exfoliative glaucoma are investigated.

References

Dai J, Suo L, Xian H, Pan Z, Zhang C. Investigating the impact of sun/UV protection and ease of skin tanning on the risk of pseudoexfoliation glaucoma: a mendelian randomization study. Invest Ophthalmol Vis Sci. 2023;64(13):4. Besch BM, Curtin K, Ritch R, at al. Association of exfoliation syndrome with risk of indirect inguinal hernia: the Utah Project on Exfoliation Syndrome. JAMA Ophthalmol. 2018;136:1368-1374. Shumway C, Curtin K, Taylor S, at al. Association between obstructive sleep apnea and exfoliation syndrome: the Utah Project on Exfoliation Syndrome. Ophthalmol Glaucoma 2021;4:260-267. Hwang AY, Ahn HB, Jin SW. Comparison between primary Ahmed valve implantation and primary trabeculectomy with mitomycin C in pseudophakic patients with exfoliative glaucoma. Graefe's Arch. Clin. Exp. Ophthalmol, published online 03 October 2023, https://doi.org/10.1007/s00417-023-06233-8

Contributors: Exfoliation SIG, Gabor Hollo & Anastasios Konstas

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