SUMMARY OF RESEARCH BEING UNDERTAKEN
Epidermolysis Bullosa is a set of genetically inherited
conditions affecting 1:17,000 of the population. A fault in a gene causes the skin to be
extremely fragile. The layers of the skin do not adhere properly and painful, widespread
blisters appear.
Ocular defects occur in all forms of EB, most commonly in junctional and recessive
dystrophic EB. The basement membrane region abnormality that leads to skin fragility also
occurs in mucous membranes, such as the eyes, mouth, throat and genital tract. The skin of
the lids, the lining of the lids and the surface of the eye (conjunctiva) and the
transparent front one third of the eye (cornea) may all be affected.
Summary of Research
The purpose of this project is to assess the nature and magnitude of eye disease due to
EB and its effect upon the patients’ quality of life. All patients with EB in the UK
will be examined at their local hospital, the finds recorded and a database created.
Guidelines for primary eye care will be introduced and a referral centre and helpline
for patients who need eye care will be established.
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