Function of the Pigment Epithelium in Patients With Type 1 Neurofibromatosis

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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