Choroidal Ganglioneuroma in a Patient With Orbitopalpebral Neurofibromatosis

Yazıcı, Bülent; Özgün, Gonca; Adım, Şaduman Balaban

doi:10.1097/iop.0b013e3182a74e55

Cited by 12 publications

(11 citation statements)

References 10 publications

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“…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%

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

et al. 2016

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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.

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Section: Discussionmentioning

confidence: 99%

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

et al. 2016

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“…Reports on choroidal GN with NF1 have been scarce in the literature, with a PubMed search retrieving only 6 published case reports [5,6,7,8,9,10]. In all cases, the GN was not suspected clinically.…”

Section: Discussionmentioning

confidence: 99%

Unsuspected Ganglioneuroma of the Choroid Diagnosed after Enucleation

et al. 2015

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We report a case of an unsuspected ganglioneuroma of the choroid in a patient with neurofibromatosis type 1. A 5-year-old girl presented from an outside institution with right proptosis and glaucoma since birth. Magnetic resonance imaging was obtained and showed a cavernous sinus mass extending into the right orbit and multiple orbital lesions. Additionally, increased signal in the posterior globe of the right eye was noted, but its etiology was unclear at the time. She was lost to follow-up for 3 years and later returned with a blind painful eye. Enucleation was performed, and histopathology was significant for diffuse choroidal ganglioneuroma and advanced glaucoma. We report the atypical history, examination findings, and histopathology to support the diagnosis.

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“…These tumors can present with buphthalmos, intractable glaucoma, or as a blind, painful eye [1,2,3,4,5,6,7,8,9,10]. On review of the literature, we found only 9 prior cases of uveal ganglioneuroma reported [1,2,3,4,5,6,7,8,9,10], 7 of which were in the setting of newly diagnosed or previously established NF1 [1,2,3,4,5,6,7,8]. One case of choroidal ganglioneuroma without confirmed NF1 has been reported in the German literature [9], and 1 case was reported in the French literature of which details were not accessible [10].…”

Section: Discussionmentioning

confidence: 99%

“…Ganglioneuroma of the choroid is a rare tumor usually associated with neurofibromatosis type 1 (NF1), with only 9 cases previously reported [1,2,3,4,5,6,7,8,9,10]. Cowden syndrome is caused by a germline mutation in the PTEN tumor suppressor gene and is characterized by hamartomatous growths as well as an increased risk for breast, thyroid, endometrial, renal, and gastrointestinal cancer [11].…”

Section: Introductionmentioning

confidence: 99%

Uveal Ganglioneuroma due to Germline <b><i>PTEN</i></b> Mutation (Cowden Syndrome) Presenting as Unilateral Infantile Glaucoma

et al. 2016

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Purpose: Uveal ganglioneuroma is a rare tumor that usually occurs in association with neurofibromatosis type 1. Here, we present a rare case of a uveal ganglioneuroma leading to a diagnosis of the tumor predisposition condition Cowden syndrome. Procedures: A 5-year-old girl with unilateral refractory glaucoma secondary to diffuse iris and choroidal thickening developed a blind, painful eye. Enucleation was performed, and histopathology revealed infiltration of the entire uveal tract by neoplastic spindle cells containing admixed ganglion cells diagnostic of uveal ganglioneuroma. Targeted next-generation sequencing of 510 cancer-associated genes was performed on tumor tissue and peripheral blood. Results: A germline nonsense mutation in the PTEN gene was found, accompanied by loss of heterozygosity in the tumor. A diagnosis of Cowden syndrome was made, for which the family sought genetic counseling and initiated the recommended cancer screening. Conclusions: A novel association is found between uveal ganglioneuroma and Cowden syndrome, emphasizing the value of genetic tissue testing in managing patients with rare ocular tumors.

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Choroidal Ganglioneuroma in a Patient With Orbitopalpebral Neurofibromatosis

Cited by 12 publications

References 10 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

Unsuspected Ganglioneuroma of the Choroid Diagnosed after Enucleation

Uveal Ganglioneuroma due to Germline <b><i>PTEN</i></b> Mutation (Cowden Syndrome) Presenting as Unilateral Infantile Glaucoma

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