EYE PROBLEMS

I am blind in my left eye and have strabismus.  It’s never bothered me as I don’t remember anything different, and for me it is normal to have monocular vision.  I had a cataract as a baby.  This could have been congenital, or could have been the result of a knock (which the doctor thought at the time).  With the benefit of hindsight (!), either of these explanations could have been due to the connective tissue issues of EDS.  I have always thought myself incredibly lucky to have had had one ‘good’ eye (though also short-sighted).

Eye problems are common in people with EDS since the eye is made up of 80% collagen.

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Diana Driscoll has a very helpful list which can be printed out and taken to eye appointments:

http://prettyill.com/downloads/Handout_for_Your_Eye_Doctor.pdf

 

Interesting articles:

“Ehlers-Danlos Syndrome: The Role of Collagen in the Eye”, Stephanie Kirschbaum et al, http://www.ednf.org/medical-professionals/ehlers-danlos-syndrome-role-collagen-eye-0

“Bruch’s membrane abnormalities in PRDM5-related brittle cornea syndrome”, Louise F. Porter, et al, http://www.ojrd.com/content/10/1/145

Interesting excerpts from Porter, et al:

“Brittle cornea syndrome (BCS) is a rare, generalized connective tissue disorder associated with extreme corneal thinning and a high risk of corneal rupture. Recessive mutations in transcription factors ZNF469 and PRDM5 cause BCS. Both transcription factors are suggested to act on a common pathway regulating extracellular matrix genes, particularly fibrillar collagens. We identified bilateral myopic choroidal neovascularization as the presenting feature of BCS in a 26-year-old-woman carrying a novel PRDM5 mutation (p.Glu134*). We performed immunohistochemistry of anterior and posterior segment ocular tissues, as expression of PRDM5 in the eye has not been described, or the effects of PRDM5-associated disease on the retina, particularly the extracellular matrix composition of Bruch’s membrane……
……PRDM5-related disease is known to affect the cornea, skin and joints [1]–[5]. Here we show that PRDM5 localizes not only in the human cornea, but is also widely expressed in the retina. PRDM5 expression has been reported to be predominantly nuclear, for example in intestinal crypts where stem cells reside, with cytoplasmic expression in some tissues, including colonic villi [8]. We show both cytoplasmic and nuclear PRDM5 expression in the retina. We show reduced expression of major collagenous components of Bruch’s membrane [12] (Additional file 1: Figure S2) in two patients with a deletion of exons 9–14 of PRDM5 (Fig. 4). An association between PRDM5 and altered collagen expression has been shown in previous studies [4]–[6]. Here we show that PRDM5 mutations lead to notable differences in the expression of ECM proteins in Bruch’s membrane that may impinge on its structural integrity…..
Conclusions     PDRM5-related disease is known to affect the cornea, skin and joints. Our study shows expression of PRDM5 in the human cornea and retina, and demonstrates downregulation of major structural components of Bruch’s membrane in the eyes of two patients with BCS type 2. These findings suggest that ECM abnormalities in PRDM5-associated disease are more widespread than previously reported.”