Clinical trial · Observational
Function of the Pigment Epithelium in Patients With Type 1 Neurofibromatosis
- Source
- ClinicalTrials.gov
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Run
- ING-CLINICALTRIALS-20260908-000001
Summary
Brief summary (as posted)
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
Conditions (1)
Free-text conditions as registered, with the CancerIndex entity they were reconciled to and the match type.
| Condition (as posted) | Mapped entity | Match | Confidence |
|---|---|---|---|
| Neurofibromatosis Type 1 | — | UNRESOLVED | — |
Interventions
Interventions (2)
| Intervention | Type | Mapped drug | Match |
|---|---|---|---|
| Electro-oculogram | Other | — | UNRESOLVED |
| Full-field electroretinogram | Other | — | UNRESOLVED |
Design
Arms and outcomes
Arms (3)
- label
- Infrared hyperreflective area
- description
- Patients with neurofibromatosis type 1 and with infrared hyperreflective areas
- interventionNames
- Other: Electro-oculogram
- Other: Full-field electroretinogram
- label
- No infrared hyperreflective areas
- description
- Patients with neurofibromatosis type 1 and with no infrared hyperreflective areas
- interventionNames
- Other: Electro-oculogram
- Other: Full-field electroretinogram
- label
- Controls
- description
- Patients with no neurofibromatosis type 1
- interventionNames
- Other: Electro-oculogram
Eligibility
Eligibility (as posted)
- Sex
- All
- Minimum age
- 7 Years
Show eligibility criteria text
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.
References
Publications (3)
- BACKGROUNDLubinski 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
- BACKGROUNDViola 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
- RESULTTouze 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