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Titre

Choroidal neurofibromas: for once not hidden!

But	Neurofibromatosis 1 (NF1) presents with hamartomatous proliferations of neural crest derived tissue including the eye. Lish noduli are easily observed. Choroidal lesions however are usually invisible on fundoscopy but are detected in up to 100% with near-infrared reflectance (NIR). Extremely rare, NF1 choroidal lesions manifest as fundoscopic visible brown-yellowish blunt lesions.
Méthodes	A 51-year old man presented with balance disorder, cognitive dysfunction and transient visual loss. He underwent an extensive ophthalmic, neurological and dermatological work-up.
Résultats	A 51-year old man with a general history of liposarcoma was admitted for neurologic deterioration. Brain MRI showed numerous confluent flair hyperintense periventricular lesions. A biopsy confirmed diffuse gliomatosis cerebri. Fundoscopy for transient visual loss revealed bilateral, multiple mixed yellow and pigmented flecks of various size spread over the posterior pole. These appeared bright on NIR, stained hyperfluorescent on FFA and were hypocyanescent on ICG. The brain and multispectral ocular imaging together with skin-colored nodules on arms and trunk directed towards a new and very late diagnosis of NF1. Skin biopsy confirmed the clinical diagnosis.
Conclusion	Choroidal neurofibromas of NF1 are often difficult to detect via fundoscopy. When present, the mixture of yellow and pigmented blunt lesions of variable size may pose a diagnostic challenge. This is especially true in the absence of a general diagnosis of NF1. However, multispectral imaging, history taking and skin inspection will guide towards NF1 and necessary ongoing surveillance.
Conflit d'intérêt	Non

Auteur 1

Nom	DEQUEKER
Initiales	L
Institut	Ghent University Hospital Ophthalmology

Auteur 2

Nom	Hemelsoet
Initiales	D
Institut	Ghent University Hospital Neurology

Auteur 3

Nom	Laureys
Initiales	G
Institut	Ghent University Hospital Neurology

Auteur 4

Nom	De Zaeytijd
Initiales	J
Institut	Ghent University Hospital Ophthalmology