Ehlers-Danlos and Eyes

Therapeutic Optometrist Dr Diana Driscoll and her children have Ehlers-Danlos.  She and her eye specialist husband have researched what eye problems can effect people with Ehlers-Danlos.  They have prepared material that is intended to be used when you visit your eye specialist.  It contains a list of things for your doctor to check for.  It also contains the references to research done in this area.  We are grateful to Dr Driscoll for allowing us to publish this valuable resource on our website.

Download (PDF): Handout for Your Eye Doctor: Eye Care for Patients with Ehlers-Danlos

Reprinted with kind permission © 2008 Diana Driscoll, O.D., www.TotalEyeCare.net

Dr. Diana Driscoll
Therapeutic Optometrist
DDriscoll@TotalEyeCare.net

I have Ehlers-Danlos Syndrome Type ___________, which causes defective connective tissue in my collagen. Please be sure to check carefully for the following:

  • Epicanthal folds
  • High myopia
  • Keratoconus
  • Blue sclera
  • Lens subluxation
  • Angioid Streaks
  • Cataracts
  • Dry eyes
  • Glaucoma (with pachymetry for accuracy)
  • Photophobia
  • Retinal Detachments, holes, tears
  • Strabismus
  • Macular Degeneration
  • Posterior Staphyloma
  • Carotid-cavernous sinus fistulas
  • Accommodative difficulties
  • Dry eyes
  • Diplopia, monocular or binocular
  • Large phorias which may be symptomatic
  • Blepharoclonus

Recommended Ocular Testing for the Patient With EDS

  • Complete slit lamp exam with TBUT. Understand that I may be more prone to corneal dystrophies, dry eyes.
  • Dilated fundus exam; fundus photography
  • Ocular topography to rule out early keratoconus
  • RTA may be needed – Retinal Thickness Analyzer
  • Orbscan and/or pachymetry to check corneal thickness
  • EDS patients are not good candidates for LASIK.
  • Pupil testing (rule out APD), aperture measurements (check for ptosis), rule out blepharoclonus.
  • I may be more prone to recurrent corneal erosions ??
  • I may be more prone to migraine episodes and/or aura without the migraine headache.
  • I may be more prone to macular degeneration

For more information, please check into www.EDNF.org.
2008 Diana Driscoll, O.D., www.TotalEyeCare.net

Articles

Title: Orbscan mapping in Ehlers-Danlos Syndrome
Authors: Pesudov, Konrad
Date: August, 2004
Publisher: Elsevier
Citation: Pesudovs, K. 2004 Orbscan mapping in Ehlers-Danlos syndrome, “Journal of Cataract and Refractive Surgery”, Volume 30, No. 8, 1795-8
Abstract: A candidate for refractive surgery presented with classic (Type 1) Ehlers-Danlos syndrome (EDS). Clinical examination revealed blue sclera, limbus-limbus thinning, myopia, and astigmatism. Orbscan (Bausch & Lomb) pachymetery mapping provided a striking demonstration of the limbus-to-limbus thinning with a central corneal thickness of 360 microm in the right eye and 383 microm in the left eye and midperipheral corneal thickness ranging from 370 to 438 microm and 376 to 434 microm, respectively. Despite the theoretical biomechanical weakness from the thin cornea and defective collagen, regular surface topography was maintained without the development of keratoconus. Although all types of EDS remain a contraindication to laser refractive surgery, Orbscan mapping provides a valuable insight into corneal shape and thickness in this condition.

Title: Keratoconus and the Ehlers-Danlos Syndrome: a new aspect of keratoconus
Author: I. Robertson
Date: May, 1975
Publisher: Medical Journal of Australia
Abstract: Hypermobility of the joints is a frequent finding in patients who have keratoconus. Twenty-two of the 44 patients (50%) presenting in 1973 were found to have hypermobility of joints (mainly Ehlers-Danlos syndrome II or mitis type). The significance of this finding is discussed in relation to biochemical defects recently found in corneas with keratoconus. The hypothesis is presented that keratoconus is often a part of a generalized heritable disorder of connective tissue due to a biochemical defect causing a weakness in its structure.

Title: Joint Hypermobility in Keratoconus
Author: Woodward EG, Morris MT
Date: Oct, 1990
Publisher: Department of Optometry and Visual Science , City University, London,
UK Ophthalmic Physiological Optometry
Abstract: There are several reports linking keratoconus and connective tissue disorders, such as Ehlers-Danlos syndrome, osteogenesis imperfecta and mitral valve prolapse, suggesting that keratoconus may be the result of a localized dysfunction in collagen metabolism. In view of this the incidence of hypermobility of the joints among a group of patients with keratoconus was compared with a normal (matched) control group. Eighty-four patients were examined using the Beighton modification of the Carter and Wilkinson scoring system. A control group matched for sex, age and ethic group was also assessed. No statistically significant difference between the groups was found for the trunk or knees; a difference was found for the metacarpo-phalyngeal and wrist joints. The findings support the theory that keratoconus is a localized manifestation of a mild connective tissue disorder. Also, it can be stated that patients with Keratoconus are five times more likely to show hypermobility of the metacarpo-phalyngeal and wrist joints.

Title: Corneal Topography in Ehlers-Danlos Syndrome
Authors: McDermott ML, Holladay J., Liu D, Puklin JE, Shin DH, Cowden JW
Date: Sept 1998
Publisher: Journal of Cataract and Refractive Surgery
Abstract: Purpose: To assess the use of corneal topography in conjunction with slitlamp biomicroscopy and retinoscopy to diagnose keratoconus in a large group of patients (72 eyes) with Ehlers-Danlos Syndrome (EDS). Result: In 72 eyes, no keratoconus was found using slitlamp biomicroscopy . No eye had an I-S value greater than 1.60 diopters, 2 eyes had a CCP greater than 46.50 D, and 2 eyes had a Q value less than -1.00. Conclusions: Slitlamp biomicroscopy of the cornea was unremarkable in all patients. Only 1 patient had Q values and profile difference maps that were mildly suggestive of keratoconus. Even after adding topography to the examination, it appears that keratoconus in a known population of patients with EDS remains rare.
Title: Blepharoclonus and Arnold-Chiari Malformation
Authors: Jacome DF
Date: August 2001
Publisher: Acta Neurol Scand
Abstract: Objective: Blepharoclonus (BLC) denotes large amplitude, involuntary
tremors of the orbicularis oculi muscles, observed during gentle closure of the eyelids.
BLC may follow major head trauma. Four patients with Armold-Chiari malformation
(ACM) and BLC are described. Conclusion: BLC is an underdiagnosed neuroophthalmological
sign of ACM.

Title: Tretinoin Pre-Treatment but not Direct Treatment Shows a Beneficial Effect of
Wound Healing in Diabetic Mice

Authors: Hans W, Ghermai U, Gosslar A, Bittner M, Furst A, Jacob K, Mesterma S,
Goppelt A
Date: September 2004
Publisher: European Society for Dermatological Research
Abstract: (condensed): There is circumstantial evidence that topical pre-treatment with tretinoin (all-trans retinoic acid) might improve the healing of human ulcers. Especially in diabetic patients with long lasting ulcers the delayed healing process is a persistent problem. We investigated and compared the effect of tretinoin pre-treatment and direct on impaired wounds in genetically diabetic mice. Wounds of db/db mice display delayed wound healing due to lessened wound contraction and delayed granulation tissue formation. We learned that the beneficial effect of tretinoin can be offset by the irritation caused by the retinoid and that when treatment and wounding start at the same time, positive effects, like thickening of skin, increase of collagen and wound contraction, set in too late to be beneficial in this wound healing model. In conclusion, the incisional wound healing model with pre-treatment of the skin of db/db mice can be used to investigate the effects on tensile strength of retinoids and their derivatives, of which those lacking the extremely irritating properties of retinoin would get the most promising drug candidates for ulcers that are often observed in diabetic patients.

Title: Brittle Cornea Syndrome and its Delineation from the kyphoscoliotic type of
Ehlers-Danlos Syndrome (EDS VI): report on 23 patients and review of the literature.

Authors: Al-Hussain H, Zeisberger SM, Huber PR, Giunta C, Steinmann B
Date: January 2004
Publisher: American Journal of Genetics
Abstract: The brittle cornea syndrome (BCS) is a generalized connective tissue disorder characterized by corneal rupture following only minor trauma, keratoconus or keratoglobus, blue sclerae, hyperelasticity of the skin without execessive fragility, and hypermobility of the joints. Because of the similarities between the BCS and the kyphoscoliotic type of the Ehlers-Danlos syndrome (EDS VI), both disorders tend to have been confounded. Here, we show that all of our BCS patients tested in this regard had biochemical findings reflective of normal activity, of lysyl hydroxylase, characteristically deficient in EDS VI, such as normal urinary total pyridinoline ratios and/or normal electrophoretic migration of collagen chains produced by dermal fibroblasts. The BCS is, therefore, an entity distinct from the kyphoscoliotic type of EDS, which has a much poorer prognosis.

Title: Effectiveness of short-contact topical tretinoin in promoting wound healing in
db/db mice.

Authors: Toyama T, Ohura N, Kurita M, Momosawa A, Haril K
Date: 2006
Publisher: Taylor & Francis, Basingstoke, Royaume-uni
Scandinavian Journal of Plastic and Reconstructive Surgery and Hand Surgery.
Abstract: We have investigated the effects of short-contact topical application of tretinoin using 16 male db/db mice by creating two full-thickness wounds on the skin of the back. A 0.1% tretinoin aqueous gel was applied to one wound for five minutes daily for five successive days while only aqueous gel was applied to the other (control). The mean (SD) percentage surface area unhealed before and after treatment were 0.88 (o.3) and 0.64 (0.15). In tretinoin-treated mice and non-treated mice (controls), the mean (SD) thicknesses of granulation were 1,383 (697) micrometers and 683 (413 micrometers), the density of capillary vessels in granulation was 12.2 (5.5%) and 5.7(3.9%), respectively. Differences between the two groups were significant for each variable. Wound healing was accelerated with short-contact topical application of tretinoin in db/db mice.

Download (PDF): Handout for Your Eye Doctor: Eye Care for Patients with Ehlers-Danlos

7 Responses to “Ehlers-Danlos and Eyes”

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  1. Avatar for Dawn Coppes Dawn Coppes says:

    Looking for answers-

    Hi Diana,

    I have 5 children. All were born prematurely at about 34 weeks.My oldest daughter who is 18 has recently been diagnosed with Ehlers Danlos Hypermoblity type along with POTS/Dysautonomia.

    We we live in Colorado but moved here only 5 years ago from the state of Georgia. It would seem ever since our move here to Colorado that all of us in regard to our health has started to decline. This has me wondering if the altitude here in Colorado maybe making the EDS and POTS/Dysautonomia worse.

    My daughter has now developed severe braycardia symptoms, extremely low blood pressure. She has now in the last 3 days started to have more passing out episodes as well.

    Last Monday she woke up in her bedroom floor after she had taken a shower, not knowing how she exactly got there. This left her upset as she began to realize she must have passed out. She remembers feeling dizzy and lightheaded prior.

    Also since we’ve lived here she has suffered from several concussions during basketball games. She has had an avulsion fracture to her hip in 8th grade during a relay race.

    In 2009 she had an ACL tear which was repaired by surgery but 2 weeks later had to have a knee manipulation surgery to break up all the scar tissue that was quickly forming that was keeping her leg from healing correctly.

    Her knee is still not right and will probably never be the same and go straight ever again, even with lots of physical therapy.

    Since my daughter has been diagnosed, I am thinking I myself should now be tested for EDS.

    If it turns out that I have EDS, it would explain years of medical mysteries for me.

    I wear a pacemaker now but only needed one after moving to Colorado after 4 months of living here.

    I was born with a heart defect of an atrial septal defect with partial drainage of the right pulmonary veins into the right atrium. Pulmonary systemic flow was huge. 7.2 times 1, with pulmonary pressure only slightly elevated.

    I then had surgery to repair the defect at age 4. I also have a persistant left vena cava that drains into the coronary sinus.

    As a child I always complained of severe leg cramps that was explained as only growing pains by my doctor, that I would grow out of. I have had pneumonia several times.

    I have always had headaches, at the age of 18, I started seeing a chiropractor which helped me significantly but the chiropractor is puzzled as to why I seem to always have a lateral atlas subluxation almost daily, when the atlas goes out the pain comes back.

    My atlas has been describe as my coat hanger as it protrudes out to the right and can be felt by others.

    Now that I am older I am having more and more problems with my SI joint going out.

    I have ribs in my back that continue to sublax quite often, again without chiropractic care, I would be in much more pain.

    Of course looking at me and my children we all seem to look completely normal, but of course it just seems that our bodies are falling apart.

    Oh also a few weeks ago the eye doctor noted to me that my nearsightness and antistigmatism was the same with no changes but that I am starting to show some kind of thickening of fluid in the eye.

    She said this happens as we age but she wouldn’t expect to see this much at my age of 42.

    She suggested I take a supplement of fish oil to help with the problem. I am writing to you to get your opinion of all of this.

    Do you think EDS very likely for me? Anyway, I could tell you a lot more but I’ll stop with this. Hope I have not overwhelmed you too much.

    Any insight or advice you might have would be much appreciated.

    Thank you,
    Dawn of Colorado

    • Avatar for Julia Julia says:

      Hi Dawn,

      I’m really glad you wrote down the medical events you have experienced. I can’t begin to imagine what it has been like to live through them all.

      Writing things down helps us move information from one part of our brain to another. It helps us to see patterns. It helps us get some perspective and understand what to do next.

      It certainly seems appropriate to consult a doctor to find out whether you have Ehlers-Danlos. Once you know what you are dealing with you can arm yourself with information and strategies.

      Most importantly you can find yourself a community of people who relate to the issues you and your family are dealing with.

      On the home page of our website jointpainrelief you will find a link to some great resources for people with Ehlers-Danlos.

      One thing I am sure of is that your experiences are valuable to other people. Just hearing your story will make others feel less alone in what they are going through.

      I am also sure that having to deal with so many big experiences has also made you a remarkable person.

      Thanks again for taking the time to tell your story. I wish you all the best.

      Regards
      Julia

  2. Hi Dawn,

    I’ll reach out to you via skype, OK? There’s lots to talk about with you!

    :) Dr. Diana

  3. Avatar for Ruth Ruth says:

    I have Ehlers Danlos type three and am in my mid fifties. I have the typical smooth skin, subluxing joints and chronic joint pain common to the condition. I am interested that the article says that Lasix eye surgery is not suitable for EDS sufferers. I had surgery on both eyes six years ago and it has been VERY successful thus far. I am wondering if there are nasty surprises to come or if I have simply been lucky!

  4. Avatar for Claire Stockley Claire Stockley says:

    Hi Diana,
    I have a mix of EDS types (1,2,3 and possibly4 I am told). I have always had hypo mobility and sublaxing/dislocating joints, smooth skin etc. But always managed symptoms pretty much by myself when younger not knowing what I had.
    Due to my dislocations increasing and bruising/bleeding I was tested and found to have EDS at the age of 45yrs.
    Approx 6mths after diagnosis my symptoms escalated and others appeared. I was retired from my position in February due to my inability to complete my role as a therapist’s assistant because of the bruising,dislocations and eye problems.
    I have been told that my Eye condition is not due to EDS by some specialist and is due to it by other, I have been through approximately six Optometrist’s now and no one seems to know exactly what to tell me and contradict each other.
    My eyes crossed over on February 17th and have been like that ever since, they do flick back to “normal” on occasions but move again. It is more my right eye than left but both do it. I also loose blocks of vision on my right eye at the outside vision or sometimes complete (like a grey curtain).
    I was told it was accommodation squint to start with and prescribed with patching , then prysm glasses. Then I was told it was accommodation spasm and prescribed atropine twice daily. After that I was given 1.5 glasses for all times and 3.0 glasses for close work. Now I have bifocals with similar 1.5 and 3.0 with a tint as my eyes have been made even more light sensitive than they were pre treatment of atropine. I have been recently told by another Optometrist that i do not have accommodation spasm.
    I am completely confused and feel like I am treading treacle waiting for a “true” diagnosis and an honest prognosis so as I can get some normality again. This is not the only symptom that has escalated but it takes away a lot of my independence when out as I see double unless I close one eye then the focus goes in and out.
    I am wondering if you can tell me if double vision is in your opinion EDS related or could it be happening for some other reason. I also have a syrinx which was recently found on an MRI scan at C-2 to C-7 level.
    Any information I can get is a help to fathom out my problems
    Thanks
    Claire

  5. Avatar for Lorraine mc Lorraine mc says:

    Hi I have EDS III ,and Raynauds syndrome . I have the opportunity of having free laser eye surgery to correct my vision, it is part of a wonderful prize package I won recently. Is everybody suffering from EDS unsuitable for laser eye surgery as a rule? I really want to do it but don’t want to take unneccesary risks. Thanks Lorraine

    • Avatar for Leona Leona says:

      Hi Lorraine. I was not eligible for laser due to cornea being to thin. This, I now know is related to my EDS classic type which was diagnosed this year. I was however eligible for implantable contact lenses which I had some 5 years ago. The surgery is similar to cataract surgery, but without removing my lens. Hoping you are eligible for either procedure as, it has been life changing for me. Leona

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