Connecting The Vision - The Ocular Involvement in EDS/HSD

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Apr 16 3:27pm | Brii Sessions, EDS Moderator | @briisessions | Comments (1)

Author: Mahima Master, MBBS

How can eyes be affected by a connective tissue disorder?

This question needs to be understood and properly evaluated. Collagen works as a building block in connective tissue and occupies almost 80% of our eye structures. Sclera, the protective covering of our eyeball and cornea are mostly made of collagen. EDS, which comprises 13 named subtypes, can be related to genetic mutations in collagen formation.

There are different ocular pathologies associated with EDS based on types of collagens, such as common ocular conditions like myopia, refractive error, glaucoma, keratoconus, dry eyes, and scleral thinning, to more severe conditions, like brittle cornea, scleral rupture, ocular trauma, retinal detachment, and retinal tears. In very rare types of EDS such as vEDS there can be vascular complications due to collagen mutations, which increases the risk of cervical artery dissection leading to blurred vision and visual field defects.

In the hEDS/HSD population, the most common ocular conditions encountered are xeropthalmia (dry eye), and myopia. For patients with hEDS, regular eye checkups help to prevent complications of dry eyes like eye infection, corneal abrasions, and erosions. Due to the collagen alteration in the cornea, EDS patients are prone to a flat cornea that can lead to an increase in axial diameter of the eye causing near-sightedness. Another rare EDS subtype, Brittle Cornea Syndrome (BCS) can increase the risk for corneal thinning due to alterations in corneal curvature leading to strabismus, keratoconus, and risk of ocular injuries.

It is vital to not only to understand the root cause of ocular conditions, but also to screen ocular pathologies in hEDS for effective prevention. At Mayo Clinic, we screen and educate patients regarding various symptoms associated with all types of EDS for comprehensive care. A thorough routine ophthalmologic examination can help understand the symptoms threatening vision. While definitive genetic testing for hEDS/HSD is still a challenge, Mayo Clinic is contributing to the advancement of healthcare by evolving preventive strategies and educating people to understand their condition.

Have you had experience with vision problems? We would love to hear your comments below.