Ocular Pathologic Findings of Neurofibromatosis Type 2

McLaughlin, Margaret E.; Pepin, Susan M.; MacCollin, Mia; Choopong, Pitipol; Lessell, Simmons

doi:10.1001/archopht.125.3.389

Cited by 50 publications

(42 citation statements)

References 17 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Neurofibromatosis type 2-specific ocular findings include posterior subcapsular lenticular opacities, epiretinal membranes, combined pigment epithelial and retinal hamartomas, disc gliomas, and optic nerve sheath meningiomas (Bosch et al, 2006a;Ragge et al, 1994Ragge et al, , 1997McLaughlin et al, 2007). Associated findings may include motility disturbances, lid dysfunction, ex- ophthalmos, corneal hypoesthesia and neurotrophic keratopathy, disc edema, and optic atrophy (Bosch et al, 2006a).…”

Section: Commentmentioning

confidence: 99%

“…which links plasma membrane proteins to the cytoskeleton and thus stabilizing the cell-to-cell adherens junctions, is crucial in triggering hamartomatous or neoplastic growth (McLaughlin et al, 2007). Schwann cells, Mueller cells, and ependymal cells appear to be vulnerable to the loss of the NF2 gene (McLaughlin et al, 2007).…”

Section: Figure 2 Histopathological Sections On (A) Right Orbital Spementioning

confidence: 99%

“…Schwann cells, Mueller cells, and ependymal cells appear to be vulnerable to the loss of the NF2 gene (McLaughlin et al, 2007). Consequently, these patients usually develop meningiomas, gliomas, ependymomas, or astrocytomas mostly in the central nervous system (CNS) (McLaughlin et al, 2007;Jaaskelainen, 2000). Optic nerve sheath meningiomas originate from meningothelial cap cells of arachnoid villi and may be found in 6.8-27% of patients with NF2 at an early age (Bosch et al, 2006a(Bosch et al, , 2006b.…”

Section: Figure 2 Histopathological Sections On (A) Right Orbital Spementioning

confidence: 99%

“…Schwannoma is the hallmark of NF2, and the tumor is encountered most commonly in the CNS, spine, peripheral nerves, and subcutaneous tissues (McLaughlin et al, 2007;Jaaskelainen, 2000). Surprisingly, there is no precise information on any possible association between NF2 and orbital schwannoma or its incidence.…”

Section: Figure 2 Histopathological Sections On (A) Right Orbital Spementioning

confidence: 99%

See 3 more Smart Citations

Neurofibromatosis Type 2: Optic Nerve Sheath Meningioma in one Orbit, Intramuscular Schwannoma in the Other

Kıratlı

Yıldız

Söylemezoğlu

2008

Orbit

View full text Add to dashboard Cite

A highly unusual patient with neurofibromatosis type 2 (NF2) presenting with simultaneous bilateral orbital tumors is described. A 12-year-old girl with a family history of NF2 was examined because of bilateral proptosis. Visual acuities were light perception RE and 20/40 LE. Magnetic resonance imaging studies showed bilateral cerebellopontine angle tumors, a tumor surrounding the right intraorbital optic nerve, and a large left lateral orbital mass mixed with the lateral rectus muscle. The histopathological diagnoses following incisional biopsies were right optic nerve sheath meningioma and left intramuscular schwannoma. The left-sided orbital schwannoma and the right-sided vestibular schwannoma were treated with fractionated stereotactic radiotherapy. This patient enlarges the spectrum of clinical presentations that can be encountered at young age in patients with NF2.

show abstract

Section: Commentmentioning

confidence: 99%

Section: Figure 2 Histopathological Sections On (A) Right Orbital Spementioning

confidence: 99%

Section: Figure 2 Histopathological Sections On (A) Right Orbital Spementioning

confidence: 99%

Section: Figure 2 Histopathological Sections On (A) Right Orbital Spementioning

confidence: 99%

See 2 more Smart Citations

Neurofibromatosis Type 2: Optic Nerve Sheath Meningioma in one Orbit, Intramuscular Schwannoma in the Other

Kıratlı

Yıldız

Söylemezoğlu

2008

Orbit

View full text Add to dashboard Cite

show abstract

“…Ocular involvement in NF2 is common and in about 10% the first presenting sign. These ocular manifestations include anomalies in the anterior segment of the eye such as corneal opacities, intrascleral schwannomas, Lisch nodules, and melanocytic lesions of the iris [3] and most frequently subcapsular cataract formation with a frequency of occurrence of 38-81% [4]. To our knowledge, the formation of a corneal myofibroma (keloid) has not yet been described in the literature in NF2 in the setting of lagophthalmos following surgery for an acoustic neuroma so far.…”

Section: Introductionmentioning

confidence: 99%

Corneal Myofibroma (Keloid) in a Young Patient with Neurofibromatosis Type 2

et al. 2017

View full text Add to dashboard Cite

We present a 27-year-old male patient with neurofibromatosis type 2 (NF2), facial palsy, and lagophthalmos following acoustic neuroma removal and an impressing vascularized corneal tumor, which was excised. Histology showed a fibrous tumor with small vessels, and immunohistochemistry was positive for vimentin and negative for smooth muscle actin, S100, and GFAP. We assume a corneal myofibroma (keloid), which in this case rather represents a reactive lesion. This entity has not been described before in NF2 or in facial palsy-associated lagophthalmos in general.

show abstract

Evidence That Anterior Episcleral Nerve Sheath Tumors Arise From the Axenfeld Nerve Loop

Chang¹

2009

Arch Ophthalmol

View full text Add to dashboard Cite

logic and immunohistochemical findings, the diagnosis of a perineurioma with atypical histological features in the bulbar conjunctiva was made. After the resection, the patient was lost to follow-up.Comment. Although perineurial cell proliferation may be suspected histologically with routine hematoxylineosin staining, a definite identification needs the demonstration of perineurial cell features using immunohistochemical studies. The morphologic criteria include spindle cells with curved or wavy thin nuclei and thin, elongated cytoplasmic processes, arranged in lamellae, and a storiform growth pattern forming loose whorls and bundles. By immunohistochemistry, perineurial cells stain positive for EMA, GLUT-1, and claudin-1; may stain positive for protein gene product 9.5 and CD34; and stain negative for S-100 protein, CD57, and neurofilaments. 6 Perineuriomas are benign soft-tissue neoplasms, but atypical and malignant examples have been reported. 1,3,4 According to Hornick and Fletcher, 1 cases with atypical pleomorphic cytologic results that show abrupt transition from typical cytomorphologic findings and storiform architecture to markedly hypercellular areas with a fascicular growth pattern and diffuse infiltration of adjacent skeletal muscle have been classified as atypical perineuriomas. Hornick and Fletcher also state that the mitotic count is variable. These histological features have no clinical significance and may be comparable to the degenerative changes observed in ancient schwannoma. 1 In benign and atypical forms of perineurioma, surgical resection with free margins is curative; only 5% of cases have shown recurrence, and there are no reported cases with metastases. 1,4,5 The differential diagnosis of soft-tissue perineurioma includes cellular schwannoma (S-100 protein ϩ; CD34 ϩ/−; EMA −), low-grade fibromyxoid sarcoma of Evans (S-100 protein −; EMA ϩ/−; CD34 −), solitary fibrous tumor (CD34 ϩ; S-100 protein −; EMA −), and benign fibrous histiocytoma or low-grade malignant fibrous histiocytoma (CD34 −; S-100 protein −; EMA −; CD68 ϩ). Immunohistochemical studies will help separate these 4 entities. [1][2][3][4][5][6] To our knowledge, this is the first case of atypical perineurioma arising in the bulbar conjunctiva reported in the English-language literature.

show abstract

Ocular Pathologic Findings of Neurofibromatosis Type 2

Cited by 50 publications

References 17 publications

Neurofibromatosis Type 2: Optic Nerve Sheath Meningioma in one Orbit, Intramuscular Schwannoma in the Other

Neurofibromatosis Type 2: Optic Nerve Sheath Meningioma in one Orbit, Intramuscular Schwannoma in the Other

Corneal Myofibroma (Keloid) in a Young Patient with Neurofibromatosis Type 2

Evidence That Anterior Episcleral Nerve Sheath Tumors Arise From the Axenfeld Nerve Loop

Contact Info

Product

Resources

About