|Title||Multimodal imaging of choroidal nodules in neurofibromatosis type 1 (nf 1) : case report|
|Purpose||To illustrate the interest of multimodal imaging in the diagnosis of choroidal nodules in NF 1|
|Methods||A 33-year-old man with a diagnosis of NF1 was referred for evaluation; He underwent an ophthalmic examination with the Heidelberg Spectralis HRA+OCT.|
|Results||His BCVA was 1.0 in RE and 0.4 in LE ( because of amblyopia secondary to micro esotropia since childhood ). Iris Lisch nodules were noted in both eyes.
The relevant multimodal imaging findings were: bilateral bright orange lesions on multicolor imaging and hyperreflective on infrared imaging, corresponding to choroidal nodules on EDI-OCT.
NF1 is an AD disorder and involves aberrant proliferation of multiple tissues of neural crest origin.
The diagnosis of NF1 is currently based on two or more of the following signs:
≥ 2 Lisch nodules, optic glioma, ≥ 6 café au lait spots, ≥ 2 skin neurofibromas, axillary or inguinal freckling, 1 plexiform neurofibroma, distinctive osseous lesions and a first- degree relative with NF1.
Choroidal nodules are ovoidal bodies consisting of proliferative Schwann cells arranged in concentric rings around an axon. They increase in number with age and severity of the pathology.
They are easily detected by infrared and multicolor imaging and could represent an additional diagnostic criteria of NF1.
|Conclusion||Choroidal neurofibromatosis, that could represent an additional diagnostic criteria of NF1, can be easily detected by near- infrared and multicolor imaging.|
|Conflict of interest||No|
|Details of conflicting interests||The authors have no proprietary or commercial interest in any materials discussed in this abstract.|