Invisible Intraocular Tumors in Children: Detection with Multimodal Imaging
Jerry A. Shields, MD; Sandor Ferenczy, CRA; Carol L. Shields, MD
Wills Eye Hospital
Introduction: To review our experience with detection of childhood intraocular tumors which were not clinically visible with indirect ophthalmoscopy, but were later apparent on multimodal imaging. We called them ‘ghost tumors’.
Methods: Review of clinical and imaging features of affected patients.
Results: Approximately 1-2% of eyes with retinoblastoma, retinal hemangioblastoma, and retinal astrocytic hamartoma demonstrate subclinical tumors. In all cases, the fundus appeared normal by ophthalmoscopy and the tumor(s) were discovered on multimodal imaging. In some cases, the tumors were found in asymptomatic children. The diagnoses included invisible retinal hemangioblastoma in patients with von Hippel Lindau syndrome, only seen on fluorescein angiography (FA) or optical coherence tomography (OCT); invisible retinal astrocytic hamartoma(s) in patients with tuberous sclerosis complex found on OCT; and invisible retinoblastoma(s) in children with germline-mutation retinoblastoma found on FA and OCT.
Discussion: The imaging methods most likely to detect invisible tumor included OCT, FA, and autofluorescence.
Conclusion: Using modern multimodal imaging, earlier recognition of subclinical intraocular tumors is possible. This may allow for earlier diagnosis, prompt treatment, and ultimately improved visual outcome in children with intraocular invisible ‘ghost’ tumors.
References: Shields, JA, Shields, CL, Retinoblastoma. Diagnostic approaches. Intraocular Tumors. An atlas and textbook. ed 3. chapter 16, Philadelphia, PA. Wolter Kluwer