Handling eye health in those with Ehlers-Danlos syndrome

What ocular complications does Ehlers-Danlos cause and how should optometrists treat patients with this condition? Léa Surugue reports.

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The first descriptions of a condition characterised by laxity and fragility of the skin and hyperextensibility of the joints were made at the end of the nineteenth century (Parapia and Jackson, 2008). But Ehlers-Danlos syndrome (EDS) – actually a group of 13 inherited disorders (Malfait et al, 2017) – remains poorly understood today, and progress in its diagnosis and treatment is slow.

Feeling fragile

In EDS, gene mutations cause abnormal collagen synthesis (Leeming and Karsdal, 2019), which leads to connective tissue becoming fragile and stretchy, in particular in the skin, the joints and the blood vessel walls. The eyes are also affected by these gene mutations. Probably one of the best-known features of EDS can be seen in those who exhibit the ability to extend their joints further than is usual, being “hypermobile” or “double-jointed”.

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