Ehlers-Danlos Syndromes (EDS) are a group of inherited disorders affecting connective tissues throughout the body. These conditions stem from genetic changes that impact the body’s ability to produce or process collagen correctly. Given that connective tissue provides support and structure to various organs, EDS can manifest in multiple bodily systems, including the eyes.
The Connective Tissue Foundation of Eye Concerns
Collagen is a protein that provides structural support to many parts of the eye, including the cornea, sclera, and lens, while also contributing to the function of the retina and other ocular tissues.
In individuals with EDS, defects in collagen and other connective tissues can lead to issues with fragility, elasticity, or structural integrity within the eye.
This compromised tissue can make the sclera (the white outer layer) abnormally thin or cause the cornea (the clear front window) to become abnormally shaped. The retina and delicate blood vessels can also be affected by these weaknesses.
Common Eye Conditions Associated with Ehlers-Danlos Syndrome
Individuals with Ehlers-Danlos Syndrome may experience various eye conditions due to connective tissue weaknesses:
Blue sclera, where the sclera thins, allowing underlying dark choroidal pigment to show through. This thinning also increases the risk of globe rupture from minor trauma.
Keratoconus, involving progressive thinning and outward bulging of the cornea into a cone shape, distorts vision.
Myopia (nearsightedness), often severe, due to elongation of the eyeball caused by weakened connective tissues.
Retinal detachment, where the retina separates from its underlying support tissue, is a concern due to structural fragility.
Fragile blood vessels increase susceptibility to bruising and bleeding within the eye.
Glaucoma, characterized by increased eye pressure that can damage the optic nerve, is a potential concern.
Dry eye syndrome, where tear production is insufficient or tear quality is poor, is a common complaint.
Strabismus (misaligned eyes) has been reported in individuals with EDS.
Poor wound healing can lead to complications after eye surgery due to altered connective tissue.
Identifying and Managing Ocular Manifestations
Identifying eye conditions in individuals with Ehlers-Danlos Syndrome begins with comprehensive eye examinations. These exams often include a slit-lamp examination to view eye structures and tonometry to measure intraocular pressure. Corneal topography may be performed to map the curvature of the cornea, useful for detecting conditions like keratoconus.
Genetic testing can confirm an EDS diagnosis and identify the specific subtype, which helps predict potential ocular risks. Management strategies are tailored to the specific eye condition and may involve regular monitoring to track progression. Corrective lenses are often used for myopia and astigmatism.
Eye drops can help manage symptoms of dry eyes or reduce intraocular pressure in cases of glaucoma. Surgical interventions may be necessary for conditions such as retinal detachment or advanced keratoconus, although special precautions are taken due to tissue fragility. A personalized and collaborative approach, often involving multiple specialists, is common for effective management.
Navigating Eye Care with Ehlers-Danlos Syndrome
Individuals with Ehlers-Danulos Syndrome benefit from seeking specialized eye care from ophthalmologists familiar with connective tissue disorders. Regular, comprehensive eye examinations are important to monitor for potential ocular issues. An initial baseline eye exam should be established, followed by annual check-ups.
Proactive communication between the ophthalmologist and other EDS specialists helps ensure coordinated care. Patients should also be educated about their specific ocular risks and symptoms, such as blurry vision, dry eyes, or light sensitivity. While EDS presents unique challenges, appropriate and consistent eye care can help maintain eye health effectively.