Multimodal Imaging Features of Bilateral Choroidal Ganglioneuroma

Abstract

Purpose. Bilateral choroidal ganglioneuroma is extremely rare, and no cases have been described in the literature. Multimodal images are crucial for its diagnosis. Here, we evaluated multimodal images in the early stage of choroidal ganglioneuroma. Methods. A 6-year-old boy was recruited who had experienced gradually progressive vision loss and rapidly progressive myopia in both eyes over the past 2 years. His eyes were comprehensively evaluated via slit-lamp microscopy, ultrasound biomicroscopy, swept-source optical coherence tomography (SS-OCT), fundoscopy, fundus fluorescein angiography, indocyanine green angiography (ICGA), ultrasound B scanning, and magnetic resonance imaging. Electrophysiological examinations included electrooculography and electroretinography. Choroid biopsy and pathological examination were performed. Results. Over the past 2 years, the patient’s best-corrected visual acuity had gradually decreased to hand motions at 10 cm in the right eye and 20/63 in the left, with axial length growth to 25.89 mm in the right and 28.99 mm in the left. Diffuse thickening in bilateral eyewalls was depicted in B scanning and magnetic resonance imaging. Secondary exudative retinal detachment was evident in SS-OCT and B scanning. SS-OCT depicted low optical reflections in the choroidal layer, revealing a lack of choroidal vasculature. Diffuse hypofluorescence in ICGA photography confirmed extensive loss of choroidal vasculature. In electrophysiological function investigations, electrooculography revealed remarkable bilateral low Arden ratios, with almost extinguished electroretinogram in the right eye. Right-eye choroid biopsy was performed, resulting in a histological diagnosis of choroidal ganglioneuroma. Conclusion. Choroidal ganglioneuroma is rare. To our knowledge, no bilateral cases have been described in the literature. Major clinical features include a rapid increase in axial length, diffuse choroidal thickening, hyper-reflectivity in the choroid on optical coherence tomography, and loss of choroidal vasculature on ICGA. The current report provides multimodal imaging of choroidal ganglioneuroma for the first time and can be valuable for early diagnosis.

New PTEN mutation identified in a patient with rare bilateral choroidal ganglioneuroma

“…There was a high probability of occurrence of a choroidal tumor, and a choroid biopsy confirmed the histological diagnosis of choroidal ganglioneuroma. More details on the multimodal images can be found in our previous report [ 20 ].

Fig.

…”

“…According to the previous reports, blindness and painful eyes were common features, and 12 out of 13 cases had neurofibromatosis type 1 (NF-1), which suggests that choroidal ganglioneuromas could be a rare manifestation within the clinicopathologic spectrum of NF-1 syndrome [ 19 ]. Recently, we encountered the first case of bilateral choroidal ganglioneuromas, and reported the multimodal imaging features in the early stage [ 20 ].…”

New mutation in PTEN identified in patient with rare bilateral choroidal ganglioneuroma

“…There were no clinical features that supporting NF-1 throughout extensive examinations. Choroidal biopsy was performed and revealed the diagnosis of ganglioneuroma 20 . Interestingly, this is the rst case of bilateral choroidal ganglioneuroma.…”

“…Choroidal tumor was highly suspected, and following choroid biopsy demonstrated the histological diagnosis of choroidal ganglioneuroma. More details on the multimodal images can be found in our previous report 20 .…”

“…According to the previous reports, blind painful eye was the common feature, and 12 cases have established neuro bromatosis type 1 (NF-1), which lead to the suggestion that choroidal ganglioneuromas could be recognized as a rare manifestation within the clinicopathologic spectrum of NF-1 syndrome 19 . Recently, we confronted with the rst case of bilateral choroidal ganglioneuromas, and reported the multimodal imaging features in the early stage 20 .…”