Function of the Pigment Epithelium in Patients With Type 1 Neurofibromatosis

NCT04153344 | Completed

• 2 other identifiers: APHP1909372019-A02526-51
• Study Type: observational
• Target: 30
• Locations: 1 country
• Sites: 1

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.

Conditions

Neurofibromatosis Type 1

Keywords

Neurofibromatosis type 1; Infrared hyperreflective areas; Hyperactivity of the pigment epithelium; Electro-oculogram; Electroretinogram

Outcome Measures

Primary Outcomes (2)

• Dark trough value

  Electro-oculogram : dark trough value (μV).

  12 months

• Light/dark (Arden) ratio

  Electro-oculogram : ratio between the light and dark potentials.

  12 months

Secondary Outcomes (3)

• Number and area of infrared hyperreflective areas

  12 months

• Values of the amplitudes

  12 months

• Values of the peak times

  12 months

Study Arms (3)

Infrared hyperreflective area

Patients with neurofibromatosis type 1 and with infrared hyperreflective areas

Other: Electro-oculogram; Other: Full-field electroretinogram

No infrared hyperreflective areas

Patients with neurofibromatosis type 1 and with no infrared hyperreflective areas

Other: Electro-oculogram; Other: Full-field electroretinogram

Controls

Patients with no neurofibromatosis type 1

Other: Electro-oculogram; Other: Full-field electroretinogram

Interventions

Electro-oculogram OTHER

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.

Controls; Infrared hyperreflective area; No infrared hyperreflective areas

Full-field electroretinogram OTHER

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; Infrared hyperreflective area; No infrared hyperreflective areas

Eligibility Criteria

• Age: 7 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• 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

You may qualify if:

• 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.

You may not qualify if:

• 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.

Sponsors & Collaborators

• Assistance Publique - Hôpitaux de Paris: lead
• URC-CIC Paris Descartes Necker Cochin: collaborator

Study Sites (1)

Hôpital Necker-Enfants Malades

Paris, 75015, France

Location

Related Publications (3)

• Lubinski W, Zajaczek S, Sych Z, Penkala K, Palacz O, Lubinski J. Electro-oculogram in patients with neurofibromatosis type 1. Doc Ophthalmol. 2001 Sep;103(2):91-103. doi: 10.1023/a:1012271206258.

  PMID: 11720259 BACKGROUND

• Viola F, Villani E, Natacci F, Selicorni A, Melloni G, Vezzola D, Barteselli G, Mapelli C, Pirondini C, Ratiglia R. Choroidal abnormalities detected by near-infrared reflectance imaging as a new diagnostic criterion for neurofibromatosis 1. Ophthalmology. 2012 Feb;119(2):369-75. doi: 10.1016/j.ophtha.2011.07.046. Epub 2011 Oct 2.

  PMID: 21963267 BACKGROUND

• Touze R, Abitbol MM, Bremond-Gignac D, Robert MP. Function of the Retinal Pigment Epithelium in Patients With Neurofibromatosis Type 1. Invest Ophthalmol Vis Sci. 2022 Apr 1;63(4):6. doi: 10.1167/iovs.63.4.6.

  PMID: 35394491 BACKGROUND

MeSH Terms

Conditions

Neurofibromatosis 1

Condition Hierarchy (Ancestors)

Neurofibromatoses; Neurofibroma; Nerve Sheath Neoplasms; Neoplasms, Nerve Tissue; Neoplasms by Histologic Type; Neoplasms; Neoplastic Syndromes, Hereditary; Neurocutaneous Syndromes; Nervous System Diseases; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Peripheral Nervous System Diseases; Neuromuscular Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

• Matthieu Robert, MD, PhD

  Assistance Publique - Hôpitaux de Paris

  PRINCIPAL INVESTIGATOR

• Dominique Brémond-Gignac, MD, PhD

  Assistance Publique - Hôpitaux de Paris

  STUDY DIRECTOR

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: November 4, 2019
• First Posted: November 6, 2019
• Study Start: May 11, 2020
• Primary Completion: July 21, 2020
• Study Completion: July 21, 2020
• Last Updated: September 12, 2025

Record last verified: 2025-09

Data Sharing

• IPD Sharing: Will not share

Locations

FR (1)