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Microsoft word - dld eds handout.doc

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

Glaucoma (with pachymetry for accuracy)
Recommended Ocular Testing for the Patient With EDS

Complete slit lamp exam with TBUT. Understand that I may be more prone to 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 ?? I may be more prone to recurrent corneal erosions ?? I may be more prone to migraine episodes and/or aura without the migraine I may be more prone to macular degeneration For more information, please check into
 2008 Diana Driscoll, O.D., Articles
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
 2008 Diana Driscoll, O.D., 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
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.

: 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 neuro-
ophthalmological sign of ACM.
 2008 Diana Driscoll, O.D.,
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.
 2008 Diana Driscoll, O.D.,
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.
 2008 Diana Driscoll, O.D.,


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