Investigate clinical anomalies in the intraocular tissues, especially the accommodation system, in RDEB patients.
ID
Source
Brief title
Condition
- Eye disorders congenital
- Ocular structural change, deposit and degeneration NEC
Synonym
Research involving
Sponsors and support
Intervention
Outcome measures
Primary outcome
Outcome of standard ophthalmic investigations, supplemented with fundus
imaging, Pentacam and 3D-OCT investigations.
Completion of these clinical investigations, documentation of the outcome in
the research file, deriving and storing anonimyzed information out of that
file, and interpreting the data. Data used for this study will be encrypted and
only involved researchers have access to the data.
Secondary outcome
NA
Background summary
Collagen type VII (Col VII) is an anchoring fibril forming protein that is
primarily known from a dermatological point of view. Col VII anchors tissue
layers together, for example the dermal-epidermal layers (thus skin). In fact,
it has a lot of resemblance with Velcro. In pathological conditions, this
anchoring protein is not fully functional, freely available, or even absent.
These conditions are known as dystrophic epidermolysis bullosa. In the
recessive variant (RDEB), there is no functional Col VII available. Patients
are therefore suffering from extensive blistering of their skin and mucosa,
leading to recurrent scar tissue formation and deformations. Many patients die
before age 35 because of skin cancer or sepsis. RDEB patients have a low
quality of life.
It is known that Col VII is present in the superficial layers of the eye
(cornea, conjunctiva). Here, the scar formation also leads to deformations and
loss of vision (corneal clouding etc.) Recently, Col VII was discovered in the
inner layers of the eye, at the vitreoretinal junction and in the retina. Pilot
studies (our group) have also indicated a possible role in the accommodation
system, thus the apparatus that modifies the lens shape in order to focus. We
therefore expect abnormalities within the eyes of RDEB patients, or, when this
is not the case, possible compensation mechanisms. We want to investigate
whether intraocular Col VII has the same anchoring role it has in skin and
cornea. Donor eyes are not available. Animal models are not necessarily
representative for humans. RDEB patients could be investigated relatively
easily and non-invasively in order to compare and comprehend the laboratory
data from our earlier pilot studies.
Study objective
Investigate clinical anomalies in the intraocular tissues, especially the
accommodation system, in RDEB patients.
Study design
A consecutive clinical case series, in an explorative/descriptive study design
(no cause & effect).
Study burden and risks
There are no risks in participating. Countermeasures are taken against damaging
participants skin if necessary. Previous experiences however, have shown no
such skin reactions. Participants can stop at any time. This would have no
consequences for their treatment at ophthalmology or elsewhere in the UMCG.
Participant could benefit from early detection of ocular anomalies, or, if no
such anomalies are found, are set at ease with the knowledge their eyes are
functioning normally.
Hanzeplein 1
Groningen 9713 GZ
NL
Hanzeplein 1
Groningen 9713 GZ
NL
Listed location countries
Age
Inclusion criteria
All RDEB patients that are willing and able (above 8 years of age, both genders, foreign UMCG/blister center visitors).
Exclusion criteria
A clinical condition that would render participation undesirable (very ill patients). Very young children that will not (or cannot) keep still during investigations.
Design
Recruitment
Followed up by the following (possibly more current) registration
No registrations found.
Other (possibly less up-to-date) registrations in this register
No registrations found.
In other registers
| Register | ID |
|---|---|
| CCMO | NL57005.042.16 |