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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.
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I have EDS hypermobility type and among other things it has affected my eyes in that I have corneal dystrophy. You can see a whitish blue circle surrounding my pupil. It surfaced first 30 years ago as feeling of a foreign body in my eye. I am 78.
Hello! I have been diagnosed as HSD and I was very myopic growing up and had retinal detachments in both eyes when I was 26. One eye had a scleral buckle repair and the other eye had multiple laser repairs. I also suffer from extreme dry eyes.
Good questions @kannshep and @ersingh According to Mayo Clinic EDS specialist, Dr. Knight, "there is not enough evidence in the literature to show a strong connection between EDS and glaucoma. Treatment of glaucoma should be directed by ophthalmologist and a diagnosis of EDS may not likely change their strategy."
"Likewise, there is no clear evidence in the academic literature to show that eye movement is impaired, but this is something patients report from time to time."
I was diagnosed with BJHS at 40 (I believe it is actually hEDS), & glaucoma at 48. My husband gets tired of hearing me blame all my ailments on Hypermobility, but it seems to be true most of the time 🥲
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2 ReactionsAt age 53, I’m getting to the bottom of the curious injuries/ illnesses I’ve experienced since childhood; I’m finally being thoroughly tested for hEDS. Four years ago, I suddenly suffered bilateral retinal detachment. I’ve had ten procedures on my eyes: two scleral buckles with vitrectomy, two ERMs (epiretinal membrane), two cataract/IOL surgeries, three YAG procedures, and one Lasik procedure. (This doesn’t include the numerous interocular steroid injections.) Although I lack peripheral vision, I know I am extremely lucky to see at all. The speed at which cataracts developed after my buckle surgery and proteins developed after my cataract/IOL procedures shocked both of my surgeons. This experience was my tipping point to figure out the root cause. Surely no one could have so many random, unusually rare and unrelated illness and injuries. Well, here I am. Thanks hEDS.
I think you maybe right. It’s looking like this is what I’m dealing with too but on top on that my immune system has decided to attack my nervous system as well.
You may want to talk to your Dr(s) about Lysosomal Storage Disorders that can cause damage to the nervous system. There are a number of them and most are considered rare, but I suspect not as rare as most Drs think...just "missed".
I had some genetic testing done and am scheduled to see a Geneticist later this month. The testing I've had done shows potentially pathogenic variants in the following genes:
ASAH1 which is linked to Hereditary Sensory and Autonomic Neuropathy
GBA, GBAP1 which are linked to Gaucher's Disease
PPT1 - which is linked to Neuronal Ceroid Lipofuscinosis/Batten/Kuf's Disease
My rudimentary understanding is that the genetic variant causes an error in the creation of certain proteins, which makes them unusable for their original purpose, and the degradation of the errant protein causes neurological damage. In general, treatment includes Enzyme Replacement Therapy, Substrate Reduction, dietary changes and in some cases high doses of specific amino acids to try to block substitution of the incorrect amino acid in building the affected protein.
Many Lysosomal Storage Disorders are symptomatic at birth, other can present later...including adult onset in some cases. Symptoms are many and can vary in severity.
https://www.webmd.com/children/what-are-lysosomal-storage-disorders
https://medlineplus.gov/genetics/gene/asah1/
L-Serine Study Results
https://deaterfoundation.org/l-serine-study-results/
Neurological manifestations of lysosomal storage diseases https://pmc.ncbi.nlm.nih.gov/articles/PMC11543150/