Connecting The Vision - The Ocular Involvement in EDS/HSD

Apr 16, 2023 | Brii Sessions, EDS Moderator | @briisessions | Comments (9)

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.

Interested in more newsfeed posts like this? Go to the Ehlers-Danlos Syndrome blog.

Mine are related to thyroid eye from Graves’ autoimmune. I know the fact that one is still protruding & poor vision after 10 yr has to be due to tissue behind my eye but there’s no fix except invasive surgery.

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I am a retired/disabled optometrist. I have just been diagnosed with Lipo-Lymphedema. I will be going for an evaluation for HSD/hEDS soon. I have always had dry eyes, was a -4.50 myope before cataract surgery, and had floppy eyelids. In addition, I always felt I had "soft" corneas because my vision and corneal curvatures varied. I also had phobias that were hard to pin down because of the variabililty. I did not have keratoconus. When I was practicing, I was taught that floppy eye lid syndrome was a sign of possible Obstructive Sleep Apnea. As the years went by I also noticed a change in the appearance of the optic nerves and visual field changes of some of these patients. I'd love to see research done on the ocular signs and symptoms of these connective tissue disorders. As an optometrist I was able to notice things that enabled me to suggest further evaluation with other health care professionals. If more people can be diagnosed earlier, some pain and frustration might be avoided.

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@carleenod

I am a retired/disabled optometrist. I have just been diagnosed with Lipo-Lymphedema. I will be going for an evaluation for HSD/hEDS soon. I have always had dry eyes, was a -4.50 myope before cataract surgery, and had floppy eyelids. In addition, I always felt I had "soft" corneas because my vision and corneal curvatures varied. I also had phobias that were hard to pin down because of the variabililty. I did not have keratoconus. When I was practicing, I was taught that floppy eye lid syndrome was a sign of possible Obstructive Sleep Apnea. As the years went by I also noticed a change in the appearance of the optic nerves and visual field changes of some of these patients. I'd love to see research done on the ocular signs and symptoms of these connective tissue disorders. As an optometrist I was able to notice things that enabled me to suggest further evaluation with other health care professionals. If more people can be diagnosed earlier, some pain and frustration might be avoided.

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Spell check grr. I meant phorias and double vision. Not phobias.

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@carleenod

I am a retired/disabled optometrist. I have just been diagnosed with Lipo-Lymphedema. I will be going for an evaluation for HSD/hEDS soon. I have always had dry eyes, was a -4.50 myope before cataract surgery, and had floppy eyelids. In addition, I always felt I had "soft" corneas because my vision and corneal curvatures varied. I also had phobias that were hard to pin down because of the variabililty. I did not have keratoconus. When I was practicing, I was taught that floppy eye lid syndrome was a sign of possible Obstructive Sleep Apnea. As the years went by I also noticed a change in the appearance of the optic nerves and visual field changes of some of these patients. I'd love to see research done on the ocular signs and symptoms of these connective tissue disorders. As an optometrist I was able to notice things that enabled me to suggest further evaluation with other health care professionals. If more people can be diagnosed earlier, some pain and frustration might be avoided.

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@carleenod, was it the ocular symptoms that led to your going for an evaluation for HSD/hEDS?

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Very good article. But I believe there may be a missing link between Gastroparesis and related malabsorption and its impact on vision. My research has led me to believe that cataract (clouding of the lens) formation is dependent on nutrition and antioxidant levels.
I've already checked my DNA report, and it does not indicate a genetic predispostion to the development of cataracts. But I do have multiple variants on genes involved in the Methylation Cycle, which seems to be the basis of my health problems, including the GI issues.
As a result I've developed a severe amino acid deficiency due to the malabsorption.
A recent visit to my opthalmogist has shown a doubling of cataracts in both eyes in about 9 months. This seems to correlate with my declining amino acid levels. So besides working to correct the malabsorption, I will be increasing my antioxidant levels in hopes of slowing down their formation.
Keep in mind, I'm not a Dr, just a regular person trying to put two and two together. I'd love to hear any feedback if anyone else has noticed a similar correlation.

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@mizebra

Very good article. But I believe there may be a missing link between Gastroparesis and related malabsorption and its impact on vision. My research has led me to believe that cataract (clouding of the lens) formation is dependent on nutrition and antioxidant levels.
I've already checked my DNA report, and it does not indicate a genetic predispostion to the development of cataracts. But I do have multiple variants on genes involved in the Methylation Cycle, which seems to be the basis of my health problems, including the GI issues.
As a result I've developed a severe amino acid deficiency due to the malabsorption.
A recent visit to my opthalmogist has shown a doubling of cataracts in both eyes in about 9 months. This seems to correlate with my declining amino acid levels. So besides working to correct the malabsorption, I will be increasing my antioxidant levels in hopes of slowing down their formation.
Keep in mind, I'm not a Dr, just a regular person trying to put two and two together. I'd love to hear any feedback if anyone else has noticed a similar correlation.

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Welcome, @mizebra. Malabsorption can certainly affect nutrient intake and deficiencies that affect the eyes. You'll be interested to know that there is more research being done on this topic too, which will be exciting to see.

Here are a couple articles from Mayo Clinic for further reading:
- The best vitamins for your eyes - Mayo Clinic Press https://mcpress.mayoclinic.org/living-well/the-best-vitamins-for-your-eyes/
- Eating for Eye Health - Mayo Clinic News Network https://newsnetwork.mayoclinic.org/discussion/eating-for-eye-health/

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@colleenyoung

@carleenod, was it the ocular symptoms that led to your going for an evaluation for HSD/hEDS?

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No, I saw an article saying that people who have pain when their blood pressure is taken, may have lipedema. My mom had already been diagnosed with lymphedema. Both she and I find the blood pressure cuff very painful. My PCP referred me for evaluation and I was diagnosed with lipedema. From there I found that hEDS is a comorbidity. My three daughters and I have many of the hEDS symptoms.

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I'm so interested to find this info. regarding EDS/hEDS and ocular issues! I have been trying to put some connections together, and this article just did!

I was DX with OAG at 45 and very elevated ocular pressure that drops were difficult to resolve. I was so frustrated and worried, until my opthomologist suggested the Durysta implant to relieve the eye pressure. It worked . . . I'm at the 8 mo mark and told it usually lasts 8 to 18 mos.

Meanwhile I was also DX with hEDS and my complicated medical journey leads me to put connections together, and when I put these two together I saw the relationship. I sort of called out loudly - I KNEW IT!

I have some questions remaining: * might the collagen issue / hEDS be the reason I have glaucoma? * what can I expect the long term to be with hEDS and glaucoma? * are there certain ocular prescription meds I should steer clear of with EDS that could cause complications?

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Is hEDS associated with disorders of eye movement, such as tropias, phorias, diplopia, and patchy visual field loss?

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