Brief Title
Function of the Pigment Epithelium in Patients With Type 1 Neurofibromatosis
Official Title
Function of the Pigment Epithelium in Patients With Type 1 Neurofibromatosis
Brief Summary
The objective of this study is to study the function of the pigment epithelium in patients
with neurofibromatosis type 1 using electro-oculogram to confirm abnormally high values
reported in previous studies, but also to correlate this hyperactivity of the pigment
epithelium with the presence and size of choroidal hyperreflective areas observed in
infra-red imaging of the fundus.
The hypothesis of the study is that the function of the pigment epithelium measured by the
electro-oculogram correlates with the surface of choroidal hyperreflective areas. Finally,
the potential consequences of a supra-normal function of the pigment epithelium on the global
retinal function are not known. A full-field electroretinogram will evaluate the global
neurosensory retinal function.
Detailed Description
Patients with neurofibromatosis type 1 have numerous eye problems: glioma of the optic
pathways, Lisch nodules, palpebral involvement by plexiform neurofibromas, orbital dysplasia,
etc. With the emergence of multimodal imaging in ophthalmology a new ocular involvement has
been described: choroidal hyperreflective areas. They are located in the most superficial
layers of the choroid, adjacent to the retinal pigment epithelium, visible only on infra-red
imaging of the fundus. These areas are frequently observed, about 90% in adults and 70 to 80%
in children. With a sensitivity of 0.83 and a specificity of 0.96, these lesions would have
their place as a diagnostic criterion for neurofibromatosis type 1.
In parallel, two successive studies have evaluated the function of the retinal pigment
epithelium using electro-oculograms; they showed in patients with neurofibromatosis type 1 a
significant increase in the Arden ratio, reflecting hyperactivity of the pigment epithelium.
The objective of this study is to study the function of the pigment epithelium in patients
with neurofibromatosis type 1, using electro-oculogram to confirm these abnormally high
values, but also to correlate this hyperactivity of the pigment epithelium to the presence
and total area of choroidal lesions observed in infra-red imaging of the fundus.
The hypothesis of the study is that the function of the pigment epithelium measured by the
electro-oculogram correlates with the surface of the choroidal hyperreflective areas.
Finally, the potential consequences of a supra-normal function of the pigment epithelium on
the global retinal function are not known. A full-field electroretinogram will evaluate the
global neurosensory retinal function.
Study Type
Observational
Primary Outcome
Dark trough value
Secondary Outcome
Number and area of infrared hyperreflective areas
Condition
Neurofibromatosis Type 1
Intervention
Electro-oculogram
Study Arms / Comparison Groups
Infrared hyperreflective area
Description: Patients with neurofibromatosis type 1 and with infrared hyperreflective areas
Publications
* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.
Recruitment Information
Recruitment Status
Other
Estimated Enrollment
30
Start Date
May 11, 2020
Completion Date
July 21, 2020
Primary Completion Date
July 21, 2020
Eligibility Criteria
Inclusion Criteria:
- Patients with neurofibromatosis type 1, aged 7 years or older:
- Presence of hyper-reflective choroidal lesions in infra-red imaging in the group
with choroidal lesions.
- Absence of hyper-reflective choroidal lesions in infra-red imaging in the group
without choroidal lesions.
- Control patients free from retinal or choroidal pathology, matched for age to patients
in the group with neurofibromatosis type 1.
- Patients consulting the ophthalmology department of Necker-Enfants Malades Hospital.
- Non-opposition of the holders of the parental authority and the minor patient;
non-opposition of the major patient.
Exclusion Criteria:
- Impossibility to perform an electro-oculogram, especially because of an oculomotor
disorder, or an electroretinogram, for example because of hyperactivity.
- Significant impairment of visual function.
- Retinal pathology proved.
Gender
All
Ages
7 Years - N/A
Accepts Healthy Volunteers
No
Contacts
Matthieu Robert, MD, PhD, ,
Location Countries
France
Location Countries
France
Administrative Informations
NCT ID
NCT04153344
Organization ID
APHP190937
Secondary IDs
2019-A02526-51
Responsible Party
Sponsor
Study Sponsor
Assistance Publique - Hôpitaux de Paris
Study Sponsor
Matthieu Robert, MD, PhD, Principal Investigator, Assistance Publique - Hôpitaux de Paris
Verification Date
May 2020