Function of the Pigment Epithelium in Patients With Type 1 Neurofibromatosis (NEF-1)

September 8, 2025 updated by: Assistance Publique - Hôpitaux de Paris

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.

Study Overview

Status

Completed

Conditions

Intervention / Treatment

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

Enrollment (Actual)

30

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • France
      • Paris, France, 75015
        • Hôpital Necker-Enfants Malades

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

7 years and older (Child, Adult, Older Adult)

Accepts Healthy Volunteers

No

Sampling Method

Non-Probability Sample

Study Population

Patients consulting the ophthalmology department of Necker-Enfants Malades Hospital:

  • 10 patients with neurofibromatosis type 1 without infrared hyperreflective areas
  • 10 patients with neurofibromatosis type 1 and infrared hyperreflective areas
  • 10 control patients with no retinal disease

Description

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.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort
Intervention / Treatment
Infrared hyperreflective area
Patients with neurofibromatosis type 1 and with infrared hyperreflective areas
Other: Electro-oculogram
Electrophysiological recording of changes in electrical potential across the retinal pigmentary epithelium during successive periods of dark and light adaptation, according to ISCEV standards. Results will comprise dark trough value and light/dark (Arden) ratio.
Other: Full-field electroretinogram
Electrophysiological recording of retinal function. Results will comprise amplitudes and latencies of each electroretinography response (dark-adapted 0.01, dark-adapted 3.0, dark-adapted 10.0, dark-adapted 3.0 oscillatory potentials, light-adapted 3.0, light-adapted 3.0 flicker).
No infrared hyperreflective areas
Patients with neurofibromatosis type 1 and with no infrared hyperreflective areas
Other: Electro-oculogram
Electrophysiological recording of changes in electrical potential across the retinal pigmentary epithelium during successive periods of dark and light adaptation, according to ISCEV standards. Results will comprise dark trough value and light/dark (Arden) ratio.
Other: Full-field electroretinogram
Electrophysiological recording of retinal function. Results will comprise amplitudes and latencies of each electroretinography response (dark-adapted 0.01, dark-adapted 3.0, dark-adapted 10.0, dark-adapted 3.0 oscillatory potentials, light-adapted 3.0, light-adapted 3.0 flicker).
Controls
Patients with no neurofibromatosis type 1
Other: Electro-oculogram
Electrophysiological recording of changes in electrical potential across the retinal pigmentary epithelium during successive periods of dark and light adaptation, according to ISCEV standards. Results will comprise dark trough value and light/dark (Arden) ratio.
Other: Full-field electroretinogram
Electrophysiological recording of retinal function. Results will comprise amplitudes and latencies of each electroretinography response (dark-adapted 0.01, dark-adapted 3.0, dark-adapted 10.0, dark-adapted 3.0 oscillatory potentials, light-adapted 3.0, light-adapted 3.0 flicker).

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Dark trough value
Time Frame: 12 months
Electro-oculogram : dark trough value (μV).
12 months
Light/dark (Arden) ratio
Time Frame: 12 months
Electro-oculogram : ratio between the light and dark potentials.
12 months

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Number and area of infrared hyperreflective areas
Time Frame: 12 months
Infrared fundus picture.
12 months
Values of the amplitudes
Time Frame: 12 months
Electroretinogram : values of the amplitudes (μV) of a- and/or b-waves for dark-adapted 0.01, dark adapted 3.0, dark-adapted 10.0, dark-adapted 3.0 oscillatory potentials, light-adapted 3.0, and light-adapted 3.0 flicker.
12 months
Values of the peak times
Time Frame: 12 months
Electroretinogram : values of the peak times (ms) of a- and/or b-waves for dark-adapted 0.01, dark adapted 3.0, dark-adapted 10.0, dark-adapted 3.0 oscillatory potentials, light-adapted 3.0, and value of the peak-to-peak time (ms) for light-adapted 3.0 flicker.
12 months

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Assistance Publique - Hôpitaux de Paris

Collaborators

URC Necker Cochin, France

Investigators

  • Study Director: Dominique Bremond-Gignac, MD, PhD, Assistance Publique - Hôpitaux de Paris
  • Principal Investigator: Matthieu Robert, MD, PhD, Assistance Publique - Hôpitaux de Paris

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

May 11, 2020

Primary Completion (Actual)

July 21, 2020

Study Completion (Actual)

July 21, 2020

Study Registration Dates

First Submitted

November 4, 2019

First Submitted That Met QC Criteria

November 5, 2019

First Posted (Actual)

November 6, 2019

Study Record Updates

Last Update Posted (Estimated)

September 12, 2025

Last Update Submitted That Met QC Criteria

September 8, 2025

Last Verified

September 1, 2025

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • APHP190937
  • 2019-A02526-51 (Other Identifier: ID RCB)

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

NO

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

product manufactured in and exported from the U.S.

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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