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Function of the Pigment Epithelium in Patients With Type 1 Neurofibromatosis

NCT04153344 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 30

Last updated 2025-09-12

No results posted yet for this study

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.

Conditions

  • Neurofibromatosis Type 1

Interventions

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).

Sponsors & Collaborators

  • URC-CIC Paris Descartes Necker Cochin

    collaborator OTHER

  • Assistance Publique - Hôpitaux de Paris

    lead OTHER

Principal Investigators

  • Matthieu Robert, MD, PhD · Assistance Publique - Hôpitaux de Paris

  • Dominique Brémond-Gignac, MD, PhD · Assistance Publique - Hôpitaux de Paris

Eligibility

Min Age
7 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2020-05-11
Primary Completion
2020-07-21
Completion
2020-07-21

Countries

  • France

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT04153344 on ClinicalTrials.gov