Retinal Glioneuronal Hamartoma in Neurofibromatosis Type 1

Lad, Eleonora M.; Karamchandani, Jason; Alcorn, Deborah M.; Moshfeghi, Darius M.; Egbert, Peter R.

doi:10.1001/archophthalmol.2012.2250

Cited by 10 publications

(8 citation statements)

References 13 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…They may be associated with multiple endocrine neoplasia type IIB and NF1. Since the first reported case of a choroidal neurofibroma containing ganglion cells in 1925, only a handful of cases have been discussed in the literature . Exceptionally, ganglion cells are also found in the ciliary body .…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Ciliochoroidal ganglioneuroma in neurofibromatosis type 1: Report of a case and review of the literature

et al. 2016

View full text Add to dashboard Cite

Orbitofacial neurofibromatosis (OFNF) is considered a variant of neurofibromatosis type 1 (NF1). OFNF most often affects the eye, orbit and one side of the face. It is characterized by the development of relatively aggressive and disfiguring lesions, including plexiform and diffuse neurofibromas. Ciliochoroidal ganglioneuromas have not been previously reported in patients with this syndrome. We report the case of a 50-year-old man with OFNF, ciliochoroidal ganglioneuroma and a large ipsilateral frontoethmoidal encephalocele.

show abstract

Section: Discussionmentioning

confidence: 99%

“…A review of the literature disclosed only 10 previous cases of uveal ganglioneuroma reported in the English literature. All of them were associated with NF1 (Table ) . The small number of cases reported to date precludes any valid assessment in terms of sex and age distribution of these uveal lesions.…”

Section: Discussionmentioning

confidence: 99%

Ciliochoroidal ganglioneuroma in neurofibromatosis type 1: Report of a case and review of the literature

et al. 2016

View full text Add to dashboard Cite

show abstract

“…Data obtained from serial sections and a panel of antibodies suggested an intraocular tumor of retinal origin, consistent with a glioneuroma with medulloepitheliomatous differentiation as described in the literature. 14,19 Some authors favor the term "glioneuronal hamartoma" on the basis of the clinicopathological behavior, 16 while for the same reasons the current authors lean toward the interpretation of a tumor.…”

Section: Research-article2013mentioning

confidence: 95%

Ocular glioneuroma with medulloepitheliomatous differentiation in a goldfish (Carassius auratus)

et al. 2014

View full text Add to dashboard Cite

Brief communicationSpontaneous ocular tumors arising from the retina are rare in fish. Reported lesions include adenocarcinoma of the retinal pigment epithelium in a guppy (Poecilia reticulata) and retinoblastoma in a spring cavefish (Forbesichthys agassizii; syn. Chologaster agassizi), porkfish (Anisotremus virginicus), and brown bullhead (Ameiurus nebulosus; syn. Ictalurus nebulosus).9,10,27 Two medulloepithelioma have been described in a goldfish (Carassius auratus) 17 and in a tinfoil barb (Barbonymus schwanenfeldii; syn. Barbodes subwanefeldi).13 Among other primitive ocular neoplasms with an ectodermic origin, a primitive neuroectodermal tumor was reported in a telescope goldfish. 3In veterinary medicine, there are no reports of glioneuroma to the authors' knowledge. This rare congenital embryonic tumor is reported in pediatric or young human patients. 1,14,19,31 Medulloepithelioma is a very rare tumor in dogs 2,8,15,26 and horses, 18 and is extremely rare in cats. 12 Isolated cases have been reported in other species, including birds 5 and llamas. 30 The present study describes the histomorphological and immunohistochemical features of a spontaneous intraocular tumor suggestive of a glioneuroma with medulloepitheliomatous differentiation in an adult goldfish (Carassius auratus).Glioneuroma and medulloepithelioma may arise from either the outer or the inner layer of the optic cup and from primitive medulloepithelium. 24 It is generally thought that medulloepithelioma is a true neoplasm originating from developing embryonal retinal cells, while glioneuroma is regarded as a choristomatous malformation consisting of glial and neuronal cells without obvious neoplastic potential. 14 An adult female goldfish living in a 50-liter hobbyist aquarium was presented with unilateral progressive exophthalmos of the left eye. While the animal's body condition deteriorated and the left eye continually enlarged, the fish maintained an appropriate body position in the water column for the several months prior to death. Only a few days before death, the fish listed to the left and its head dragged along the bottom. The right eye was normal in size and had a red pigmentation of the limbus. Neither medical treatment of the eye nor disinfection of the aquarium was carried out. The fish shared the aquarium with another goldfish found dead with gross and microscopic lesions of mycobacteriosis. Abstract. An intraocular mass in the left eye causing chronic severe exophthalmia in an adult female goldfish (Carassius auratus) is described. The fish shared an aquarium with another goldfish found dead with gross and microscopic lesions consistent with mycobacteriosis. Histological examination of the left eye, histochemical (periodic acid-Schiff [PAS], Alcian blue, Ziehl-Neelsen) and immunohistochemical tests (glial fibrillary acidic protein, human neuronal protein, vimentin, and cytokeratin AE1/AE3) were carried out on the intraocular mass. Neoplastic cells forming an unencapsulated highly cellular proliferation partially covered by a...

show abstract

“…Ganglioneuromas have been reported in the orbit, vertebral spines, liver, and lung but are extremely rare in the choroid. A literature search revealed only 13 published case reports [6][7][8][9][10][11][12][13][14][15][16][17][18]. In all of those cases, blindness and eye pain were present, and ganglioneuroma was not initially suspected.…”

Section: Introductionmentioning

confidence: 99%

Multimodal Imaging Features of Bilateral Choroidal Ganglioneuroma

Jiang

Zhang

Liu

et al. 2020

Journal of Ophthalmology

View full text Add to dashboard Cite

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.

show abstract

Retinal Glioneuronal Hamartoma in Neurofibromatosis Type 1

Cited by 10 publications

References 13 publications

Ciliochoroidal ganglioneuroma in neurofibromatosis type 1: Report of a case and review of the literature

Ciliochoroidal ganglioneuroma in neurofibromatosis type 1: Report of a case and review of the literature

Ocular glioneuroma with medulloepitheliomatous differentiation in a goldfish (Carassius auratus)

Multimodal Imaging Features of Bilateral Choroidal Ganglioneuroma

Contact Info

Product

Resources

About