Ehlers-Danlos Syndrome and the Eyes

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Ehlers-Danlos Syndrome (EDS) is a group of genetic connective tissue disorders that impact the structural integrity of collagen throughout the body. While EDS is commonly associated with joint hypermobility, skin fragility, and chronic pain, it also significantly affects the eyes. The eyes, composed largely of collagen, are particularly affected in individuals with Ehlers-Danlos syndrome, leading to various visual complications. This article explores the interplay between EDS and eye health, common ocular manifestations, and strategies for management.

Understanding the Link Between EDS and Eye Health

Collagen, the primary protein affected in EDS, is a vital component of the eye. It provides structural support to the cornea, sclera, and lens while contributing to the function of the retina and other ocular tissues. The weakened or faulty collagen in EDS can lead to various eye-related issues that impact vision and overall quality of life.

Common Ocular Manifestations in EDS

1. Corneal Abnormalities:
   • Thinning and Curvature Issues: Patients with EDS, particularly classical and kyphoscoliotic types, often have corneal thinning and steepness, leading to conditions like keratoconus, astigmatism, and myopia.
   • Treatment for Keratoconus: Discuss scleral contact lenses and corneal cross-linking as common treatments for keratoconus.
2. Myopia:
   • High myopia is frequently reported, particularly in the classical and hypermobile types of EDS. This is often due to the elongation of the eyeball caused by weakened connective tissues.
3. Retinal Detachments:
   • Due to scleral thinning, the retina is more prone to detachments. This risk is heightened by high myopia and structural fragility.
4. Dry Eye Syndrome:
   • Patients often report symptoms like burning, excessive tearing (from reflex tearing), and difficulty focusing. Autonomic dysfunction and lacrimal gland abnormalities may play a role.
5. Blue Sclera:
   • Commonly seen in kyphoscoliotic EDS due to scleral thinning. This condition can be cosmetically noticeable and indicate underlying fragility.
6. Lens Dislocation (Ectopia Lentis):
   • Noted particularly in vascular and arthrochalasia EDS types, leading to visual distortions and complications like pupillary block glaucoma.
7. Floppy Eyelids:
   • Increased laxity in eyelid tissues can cause chronic irritation and symptoms like mucoid discharge and light sensitivity.
8. Neurological and Secondary Effects:
   • Conditions like migraine-associated visual aura, papilledema from Chiari malformations, and prolonged concussion recovery affecting vision.
9. Physical Appearance:
   • Distinct ocular features such as blue sclera, downward-slanting eyelids, and periorbital dark circles are often noted in individuals with Ehlers-Danlos syndrome, contributing to its characteristic physical appearance.

Facial Features Around the Eyes and Face

EDS can also manifest in unique facial characteristics that provide diagnostic clues and contribute to the overall physical appearance:

1. Epicanthic Folds:
   • These skin folds covering the inner corner of the eye are not specific to EDS but may appear in some individuals and often coincide with other connective tissue-related features.
2. Dark Circles:
   • Fragile and translucent skin around the eyes often results in prominent dark circles due to visible blood vessels.
3. Downward-Slanting Eyelids:
   • This characteristic can add to the distinct facial appearance of individuals with EDS.
4. Nasal Features:
   • Cartilage weakness can sometimes contribute to subtle nasal abnormalities, though these are less commonly discussed in relation to EDS.

Serious Ocular Complications

1. Glaucoma:
   • A common concern due to impaired drainage or elevated intraocular pressure.
2. Carotid-Cavernous Sinus Fistulas:
   • Particularly life-threatening in vascular EDS, presenting with symptoms like pulsating vision and severe eye redness.
3. Macular Degeneration:
   • Both dry and wet forms are reported, with EDS potentially contributing through vascular fragility.

Impact of UV Exposure on EDS Eyes

Patients with EDS are especially vulnerable to UV-related eye damage due to their weakened collagen. UV exposure can exacerbate conditions like dry eyes and increase the risk of corneal damage. Protective measures include:

• Wearing sunglasses with 100% UV protection.
• Using wide-brimmed hats outdoors.
• Avoiding prolonged exposure to direct sunlight.

These strategies can help mitigate additional stress on already fragile ocular structures.

Diagnostic Recommendations and Treatment

Comprehensive baseline testing is critical, including corneal thickness (pachymetry), topography, and dilated fundus exams. Annual follow-ups should monitor changes. It is also important to include a specific assessment of symptoms such as blurry vision, eye twitching, and intermittent double vision, which are common in EDS.

Treatment Strategies

1. Conservative Management:
   • Protective eyewear to prevent trauma.
   • Artificial tears and omega-3 supplements for dry eye.
   • Precautions against UV exposure to protect fragile ocular tissues.
2. Surgical Considerations:
   • Higher surgical risks due to tissue fragility. Special care in suturing and wound management is necessary.

Key Takeaways for EDS Patients

• Patients should promptly report symptoms such as flashes of light, curtain-like vision changes, or sudden visual loss. Early intervention is crucial for preserving vision.
• Much like the eyes, teeth are also impacted by EDS due to compromised connective tissue, often leading to dental fragility and enamel defects.

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FAQ

What are the symptoms of EDS in the eyes?

Common symptoms of EDS in the eyes include blurry vision, dry eyes, excessive tearing, double vision, light sensitivity, and occasional eye twitching. These symptoms often result from weakened connective tissues that support the ocular structure.

What color are Ehlers-Danlos eyes?

People with EDS often exhibit blue sclera due to the thinning of the scleral tissue, which allows the underlying choroid to show through. Additionally, dark circles under the eyes may be noticeable because of fragile and translucent skin.

Why do my eyes shake sometimes?

Eye shaking, or nystagmus, can occur due to neurological or muscular issues. In EDS, it may be linked to muscle instability or autonomic dysfunction, which can affect the control of eye movements.

What are epicanthic folds in EDS?

Epicanthic folds are skin folds of the upper eyelid that can cover the inner corner of the eye. While not specific to EDS, some individuals may exhibit similar features, often accompanied by other connective tissue-related facial characteristics.

Can Ehlers-Danlos cause blurry vision?

Yes, people with Ehlers-Danlos Syndrome (EDS) can experience blurry vision, often intermittently. In EDS, this may result from weakened connective tissues affecting eye stability, dry eye syndrome, or neurological symptoms like dysautonomia. In CFS and POTS, people may experience blurry vision or seeing spots during episodes of orthostatic intolerance due to reduced blood flow to the eyes and brain, but this often improves when the person sits or lies down.

References

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3. Heim, A., Raghunath, M., Meiss, L., Heise, U., Myllyla, R., Kohlschutter, A., & Steinmann, B. (1998). Ehlers-Danlos syndrome type VI (EDSVE): problems of diagnosis and management. Acta Paediatrica, 87, 708-710.
4. Malfait, F., Wenstrup, R. J., & De Paepe, A. (2010). Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type. Genetics in Medicine, 12(10), 597-605.
5. Gharbiya, M., et al. (2012). Ocular Features in Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome Hypermobility Type: A Clinical and In Vivo Confocal Microscopy Study. American Journal of Ophthalmology, 154, 593-600.
6. Ritelli, M., Venturini, M., Cinquina, V., Chiarelli, N., & Colombi, M. (2020). Multisystemic manifestations in a cohort of 75 classical Ehlers-Danlos syndrome patients: natural history and nosological perspectives. Orphanet Journal of Rare Diseases, 15(1), 197.
7. Villani, E., Garoli, E., Bassotti, A., et al. (2013). The cornea in classic type Ehlers-Danlos syndrome: macro- and microstructural changes. Investigative Ophthalmology & Visual Science, 54(13), 8062-8068.
8. Whitaker, J. K., Alexander, P., Chau, D. Y., & Tint, N. L. (2012). Severe conjunctivochalasis in association with classic type Ehlers-Danlos syndrome. BMC Ophthalmology, 12, 47.
9. Lindor, N. M., & Bristow, J. (2005). Tenascin-X deficiency in autosomal recessive Ehlers-Danlos syndrome. American Journal of Medical Genetics A, 135(1), 75-80.
10. Sangiovanni, J. P., Agron, E., Meleth, A. D., et al. (2009). Omega-3 long-chain polyunsaturated fatty acid intake and 12-y incidence of neovascular age-related macular degeneration and central geographic atrophy: AREDS report 30. American Journal of Clinical Nutrition, 90(6), 1601-1607.

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