| Identifier |
ehlers_danlos_syndrome_lee |
| Title |
Ehlers Danlos Syndrome |
| Creator |
Andrew G. Lee, MD; Chelsea Livingston |
| Affiliation |
(AGL) Chairman, Department of Ophthalmology, The Methodist Hospital, Houston, Texas; Professor of Ophthalmology, Weill Cornell Medicine, New York City, New York; (CL) Class of 2022, Baylor College of Medicine, Houston, Texas |
| Subject |
Ehlers Danlos Syndome; EDS; Collagen; Hypermobility; Cornea |
| Description |
Summary: • Ehlers Danlos Syndrome (EDS) o Inherited collagen disorder o Different collagen mutations produce the various types o Type I - Gravis form o Type II - Mitis form o Type III - Hypermobile form > Patient have hypermobility of their joints o Type IV - Arterial form > Vascular wall is weak > Arterial dissections, aneurysms, non-traumatic carotid-cavernous fistulas > Horner syndrome, pupil-involved CN III palsy, carotid-cavernous fistula o Type V - X-linked form > Similar to mitis form o Type VI - Ocular form > Associated with scoliosis > Thin ocular structures due to bad collagen • Thin sclera → blue sclera • Thin cornea → keratoconus • Thin retina → myopic degeneration, retinal detachments, angioid streaks • Thin muscles → strabismus • EDS types less frequently seen in the ophthalmology clinic: o Type VII - Arthrochalasis form > Congenital dislocations o Type VIII - Periodontal form. |
| Transcript |
Today we're going to be talking about Ehlers Danlos Syndrome (EDS). So the Ehlers Danlos Syndrome is an inherited collagen disorder, and there are different collagen mutations that produce the various types. And as an ophthalmologist you should be aware of some of the different Ehlers Danlos types because the types make a difference. So the first is gravis which is the classic form. And then there's a mini-me version of this which is the mitis form. And then we have the type 3 form which is the one that's the most obvious which is the hypermobility form. And in the hypermobility form they have hypermobility of their joints. And there's a number of scoring regimens that have been used (you can go Google all of these) where the patients can bend their fingers or touch around their thumbs and various different ways of bending their joints. They're basically human versions of Elastigirl. Number 4 is the one we really are afraid of which is the vascular form. And that vascular form is what produces arterial dissections, aneurysms, and non-traumatic carotid-cavernous fistulas because the wall is weak. The wall in the artery is weak, and it can come to us as a Horner syndrome, or a pupil-involved 3rd nerve palsy, or carotid-cavernous fistula. And then we have the X-linked form which is like a mitis except its inheritance pattern is the X-linked form. Then we have this ocular form which is also associated with scoliosis which is Ehlers Danlos 6. This ocular one has thinness of the ocular structures because the collagen is bad. So you could have thin sclera which shows up as blue sclera. You could have thin cornea which is keratoconus. You could have thin retina which is myopic degeneration and retinal detachments and angioid streaks which look like vessels but they're deeper. They're not really vessels. They're breaks in the Bruch's membrane. And you could have thin muscles causing strabismus. And then the two that don't come to us are the arthrochalasis form (the joint form, congenital dislocations) and the periodontal form. So both of these, the joint form and the tooth form, don't really come to us. So the ones that we see are the ocular forms (thin eye) and the vascular forms which are the dangerous ones. And so you need to know a little bit about Ehlers Danlos collagen disorder, inherited, different mutations. Think about it in patients who have thin blue sclera, keratoconus, myopic degeneration, angioid streaks, strabismus. And beware of the vascular form of EDS. |
| Date |
2021-04 |
| Language |
eng |
| Format |
video/mp4 |
| Type |
Image/MovingImage |
| Collection |
Neuro-Ophthalmology Virtual Education Library: Andrew G. Lee Collection: https://novel.utah.edu/Lee/ |
| Publisher |
North American Neuro-Ophthalmology Society |
| Holding Institution |
Spencer S. Eccles Health Sciences Library, University of Utah, 10 N 1900 E SLC, UT 84112-5890 |
| Rights Management |
Copyright 2019. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright |
| ARK |
ark:/87278/s6cg5mqh |
| Setname |
ehsl_novel_lee |
| ID |
1680601 |
| Reference URL |
https://collections.lib.utah.edu/ark:/87278/s6cg5mqh |
