Pseudoxanthoma elasticum, ocular manifestations, complications and treatment

Abstract

Pseudoxanthoma elasticum (PXE), also known as Groenblad syndrome, is an inherited disorder characterised by mineralisation and fragmentation of elastic fibres in a number of organs including the skin, eyes and arterial blood vessels. The clinical manifestations of PXE centre on three major organ systems: skin, cardiovascular system and the eyes. This review focuses on the ocular manifestations of pseudoxanthoma elasticum, namely, peau d'orange, angioid streaks and choroidal neovascularisation, the clinical course of patients, the diagnostic approaches and current therapeutic strategies, such as laser photocoagulation whether transpupillary thermotherapy or photodynamic therapy, macular translocation surgery and anti‐vascular endothelial growth factor treatment.

Key words:

• Groenblad syndrome
• pseudoxanthoma elasticum
• retina
• visual acuity

Notes

*  Hardy–Weinberg law: p²+ 2pq + q²= 1, with p and q being the frequency of wild type and mutated alleles, respectively, p² the frequency of homozygosity for the wild type allele, 2pq the frequency of heterozygosity and q² the frequency of the disease. Here, q²= 1/25,000, ; p = 1 ‐ q = 1 ‐ 0.0063 = 0.9937. Thus, the frequency of heterozygous carriers (2pq) can be calculated as 2 × 0.9937 × 0.0063∼0.0125 (1.25%).¹⁴