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TitelChoroidal neurofibromas: for once not hidden!
DoelNeurofibromatosis 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.
MethodesA 51-year old man presented with balance disorder, cognitive dysfunction and transient visual loss. He underwent an extensive ophthalmic, neurological and dermatological work-up.
ResultatenA 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.
ConclusieChoroidal 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.
BelangenverstrengelingNee
Auteur 1
NaamDEQUEKER
InitialenL
InstituutGhent University Hospital Ophthalmology
Auteur 2
NaamHemelsoet
InitialenD
InstituutGhent University Hospital Neurology
Auteur 3
NaamLaureys
InitialenG
InstituutGhent University Hospital Neurology
Auteur 4
NaamDe Zaeytijd
InitialenJ
InstituutGhent University Hospital Ophthalmology
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