Optic Nerve Biopsy Research Articles

Neurosarcoidosis Mimicking a Malignant Optic Glioma

A 55-year-old African-American man developed progressive unilateral optic neuropathy and periocular pain. MRI showed thickening and enhancement of the mid-orbital segment of the ipsilateral optic nerve. Optic neuritis was diagnosed, and he was treated with corticosteroids without improvement. After being lost to follow-up, he returned with worsening vision in the affected eye, aggravated pain, and proptosis. MRI now showed thickening and enhancement of the entire orbital and intracranial segments of the optic nerve. Because the patient had no light perception vision in that eye and a malignant glioma was suspected, he underwent optic nerve biopsy that revealed non-caseating granulomas throughout the optic nerve tissue. CT body imaging failed to disclose other evidence of sarcoidosis. Neurosarcoidosis limited to the optic nerve is rare but should always be suspected in such circumstances. An exhaustive effort to find extracranial evidence for this diagnosis should be undertaken before resorting to optic nerve biopsy.

Isolated optic nerve involvement in chronic lymphocytic leukaemia

Abstract Purpose We present a case of isolated optic nerve involvement by B‐cell small lymphocytic lymphoma/chronic lymphocytic lymphoma (SLL/CLL). Methods A 57 year old woman with CLL stage 1 developed right‐sided visual loss progressing to blindness. There was optic disc swelling and secondary central retinal vein occlusion (CRVO). Imaging revealed a thickened right optic nerve. A clinical diagnosis of optic nerve sheath meningioma was made. Biopsies were taken from optic nerve sheath and abnormal‐looking optic nerve tissue. Results Histopathology revealed infiltration of optic nerve by small B‐cell lymphoma, with CD5, CD20 and CD23 positive, cyclin D1 negative, neoplastic B‐cells, with kappa light chain restriction. Molecular genetic analysis with heavy chain primers confirmed a dominant band of PCR products, consistent with monoclonal B‐cell expansion. This lymphoma phenotype was consistent with that of the previously diagnosed stage 1 CLL. Optic nerve sheath dura was uninvolved, with reactive meningeal hyperplasia only. Conclusion Although primary intraocular lymphoma and optic nerve lymphoma are present in up to 20% of cases of primary central nervous system lymphoma, isolated optic nerve lymphoma is rare. We believe this case is only the sixth reported where optic nerve biopsy was diagnostic. Other authors have noted the lack of dural involvement by lymphoma in this condition. We wish to add that in addition to potential diagnostic failure if optic nerve sheath alone is biopsied, the presence of reactive meningeal hyperplasia might lead to an erroneous diagnosis of optic nerve sheath meningioma on an inadequate biopsy specimen. Also, it is possible for accurate diagnosis to be achieved without sacrificing the optic nerve, although visual loss may not be avoided.

Histologic Findings in T-cell Lymphoma Infiltration of the Optic Nerve

To report the clinical and histologic features of lymphomatous infiltration of the optic nerve by systemic T-cell non-Hodgkin's lymphoma (NHL). Interventional case report. A patient with peripheral T-cell NHL. A 39-year-old man with a diagnosis of peripheral T-cell NHL, stage IV, with CNS involvement and decreased vision was found to have lymphomatous infiltration of the optic nerves. Visual acuity. Despite treatment with chemotherapy and an optic nerve sheath fenestration, the patient lost vision in the right eye and subsequently underwent an optic nerve biopsy. The histopathology showed diffuse infiltration with a clonal population of lymphocytic cells that were CD3 positive and CD20 negative, consistent with T-cell NHL. Optic nerve infiltration from systemic B-cell lymphoma is rare and has been reported; we report an unusual case of bilateral optic nerve infiltration secondary to peripheral T-cell NHL.

Isolated Lymphoma of the Anterior Visual Pathway Diagnosed by Optic Nerve Biopsy

A 72-year-old previously healthy man developed rapidly progressive visual loss, and brain imaging showed features suggestive of a malignant glioma of the anterior visual pathway. Biopsy of one optic nerve yielded a diagnosis of lymphoma. There was no evidence of an extracranial non-Hodgkin lymphoma, so the conclusion was that this represented a primary central nervous system lymphoma (PCNSL). PCNSL isolated to the optic chiasm has been described only once in an immunocompetent patient. Our patient is unusual in that the lymphoma involved the optic nerve, chiasm, and tract in an immunocompetent patient.

Bilateral Primary Optic Nerve Lymphoma

A 69-year-old man was examined for bilateral infiltrative optic neuropathy. Optic nerve biopsy confirmed a malignant B cell lymphoma. Systemic examination and investigations failed to show involvement of other sites.

A case of neurofibromatosis 1 presenting with optic pathway glioma with an early onset and an aggressive course

Optic pathway glioma associated with neurofibromatosis 1 has a classically indolent course. However, involvement of the optic radiations is relatively rare and is associated with a more aggressive course. A three-year-old girl presented with strabismus and loss of vision in the left eye with relative afferent pupillary defect and optic disc pallor. She had multiple cafiota au lait spots. Visually evoked potential was suggestive of an optic nerve conduction defect and magnetic resonance imaging of the brain was suggestive of an optic pathway glioma involving the optic nerves, the optic chiasma and the optic tracts. The optic radiations and the dendate nuclei had hamartomas. Optic nerve biopsy confirmed pilocytic astrocytoma. Radical radiotherapy under general anesthesia was subsequently given. This case report aims to highlight the involvement of the optic radiations and the unusually aggressive clinical course in this case.

Unilateral Blastomyces dermatitidis Optic Neuropathy : Case Report and Systematic Literature Review

To describe the clinical and histopathologic findings of a unique case of isolated optic nerve Blastomyces dermatitidis infection and to summarize the ophthalmic blastomycosis literature. Case report and systematic literature review. A 70-year-old healthy man experienced impaired vision in his left eye. Magnetic resonance imaging (MRI) showed an enhancing process of the left optic nerve sheath. Although vision initially improved with oral dexamethasone, visual acuity subsequently decreased from 20/25 to no light perception over 8 weeks. An optic nerve biopsy revealed blastomycosis. Because ophthalmic blastomycosis infections are unusual, the Cochrane Library, PubMed, OVID, and UpToDate databases were searched using the term blastomycosis with the limits English and humans. Articles that predated the databases were gathered from current references. Visual acuity of the left eye and MRI of the orbits and brain. Histopathologic examination of the nerve specimen showed B. dermatitidis infection. Needle biopsy and culture results of a suspicious lung scar were positive for Blastomyces. The patient was treated with intravenous amphotericin B followed by oral itraconazole for 6 months. The left eye remained blind 23 months after the biopsy. Approximately 40 articles describing ophthalmic infection were found in the literature search. Ophthalmic blastomycosis infections can cause rapid, complete vision loss. Prompt treatment is required, but infections are uncommon and usually are misdiagnosed, often because of lack of biopsy results. Tissue must be biopsied, cultured, or both for a definitive diagnosis. Because virtually all blastomycosis cases begin in the lungs, a chest radiograph or computed tomographic scan should be obtained. Any questionable lung lesion should be biopsied to corroborate possible ophthalmic disease.

MR Findings in a Patient With Isolated Intrinsic Optic Nerve Lymphoma

We present a case of unilateral isolated intrinsic optic nerve small B-cell lymphoma confirmed by optic nerve biopsy in a patient with lymphoplasmacytoid lymphoma. Brain and orbital MRI with gadolinium revealed fusiform enlargement of the optic nerve from the level of the optic nerve head to the prechiasmatic region, with associated homogeneous enhancement of the nerve itself.

Isolated Optic Nerve Lymphoma Diagnosed by Optic Nerve Biopsy

To report a case of isolated optic nerve lymphoma diagnosed by optic nerve biopsy. Case report. A 66-year-old woman was referred to the Neuro-Ophthalmology Service because of a decrease in visual acuity and right optic disk edema. A magnetic resonance image of the brain showed only enhancement of the optic nerve. An examination that included ANA, c-ANCA, p-ANCA, Lyme titers, FTA-ABS, ACE level, chest x-ray, and lumbar puncture was negative. Because of rapid progression on clinical examination and serial imaging, an optic nerve biopsy was performed, which showed B-cell lymphoma. Optic nerve lymphoma can be confused with a variety of inflammatory and neoplastic infiltrations of the optic nerve on clinical and radiographic examinations. Optic nerve biopsy can be valuable in diagnosing isolated optic nerve lymphoma if other diagnostic tests are unrevealing, but the procedure carries considerable risk of loss of visual acuity and should be recommended judiciously.

Australasian orbital and adnexal Wegener's granulomatosis.

To report a retrospective case series of 29 Australian and New Zealand patients with orbital and adnexal Wegener's granulomatosis (WG). Retrospective case series. Twenty-nine cases of orbital and adnexal WG were identified. A number of oculoplastic surgeons and other clinicians in Australia and New Zealand was asked about their experience with orbital and adnexal WG. Clinical data regarding these cases were conveyed by means of a questionnaire. Cases of ophthalmic WG without features of orbital or adnexal disease were excluded. Data obtained from the questionnaire includes age, gender, limited or generalized disease, antineutrophil cytoplasmic antibody (ANCA) status, symptoms and signs: nasolacrimal obstruction, sinusitis, fistula/orbital bone erosion, orbital mass/proptosis, extraocular muscle/diplopia, visual acuity reduction caused by optic nerve compression, orbital pain, lid edema/erythema, biopsy status, and treatment status. Twenty-nine patients with orbital and adnexal WG were identified and described. Symptoms included awareness of an orbital mass, epiphora, orbital pain and diplopia. Signs included an orbital mass or proptosis (69%), nasolacrimal duct obstruction (52%), limited ocular rotations (52%), lid erythema and edema (31%), bony destruction (21%), and reduced visual acuity (17%). Two patients had a persistent nasolacrimocanthal fistula. Cytoplasmic pattern antineutrophil cytoplasmic antibodies (c-ANCA) were present in 52% of patients, and in 9 of 10 patients with generalized disease. However, c-ANCA was positive in only 32% (6 of 19) of patients with limited WG. Perinuclear pattern antineutrophil cytoplasmic antibodies (p-ANCA) was positive in 10% of cases. To diagnose and treat ophthalmic WG effectively, the clinician must be aware of its protean orbital and adnexal manifestations. WG may occur with or without systemic involvement, and c-ANCA was negative in approximately half our cases. Our cases also demonstrated two orbital fistulae, an observation previously believed to be rare.

Extraocular extension of unrecognized choroidal melanoma simulating a primary optic nerve tumor: Report of two cases

BackgroundOrbital extraocular extension of choroidal melanoma is well known and is usually detected in eyes with medium and large tumors, but it is very rare with small melanomas. It is particularly unusual for choroidal melanomas of any size to invade the optic nerve or its meninges. DesignTwo case reports. ParticipantsTwo patients with small, relatively inconspicuous juxtapapillary pigmented choroidal lesions were referred with the diagnosis of primary optic nerve tumor. Both demonstrated a large nodular tumor in the meninges of the optic nerve, immediately posterior to the globe. MethodsRetrospective review of clinical records and histopathology. ResultsIn both cases, orbital magnetic resonance imaging confirmed the presence of a hyperintense enhancing nodular mass near the anterior portion of the optic nerve, prompting optic nerve biopsy in one case. Subsequent fundus examination disclosed a small juxtapapillary pigmented choroidal lesion measuring 1.0 mm or less in thickness. These observations suggested that the optic nerve tumor might be nodular extraocular extension of a small choroidal melanoma. Modified enucleation was performed in both cases, and histopathologic examination revealed a nodule of malignant melanoma within the meninges that compressed the optic nerve and extended extraocularly from a small, relatively inapparent juxtapapillary choroidal melanoma. In both cases, the extraocular component was large and symptomatic, whereas the intraocular component was inconspicuous. ConclusionsSmall juxtapapillary choroidal melanomas can exhibit prominent extension into the orbit. All patients with orbital tumors should have careful ophthalmoscopy.

Sarcoid Masquerading as Optic Nerve Sheath Meningioma

Sarcoid manifesting as an optic nerve tumor without evidence of systemic disease is uncommon. Throughout a 2-year period, a 22-year-old white woman had progressive monocular loss of vision to the level of no light perception. Optic atrophy but no uveitis was noted in the affected eye. Magnetic resonance imaging revealed thickening and enhancement of the apical optic nerve, with "tram-tracking." The presumptive diagnosis was optic nerve sheath meningioma; however, a biopsy specimen from the optic nerve revealed sarcoid. Extensive postoperative investigations revealed no systemic sarcoidosis. To our knowledge, 17 cases similar to ours, with the diagnosis proved by optic nerve biopsy, have been previously reported in the English-language literature. Most of these were mistaken preoperatively for optic nerve sheath meningioma. None of the patients had evidence of systemic sarcoidosis on initial postoperative testing. Neuroimaging, serum level of angiotensin-converting enzyme, and clinical characteristics such as age, race, sex, and optochoroidal collaterals do not distinguish optic nerve sheath meningioma from sarcoid of the optic nerve. In the absence of uveitis or systemic involvement, optic nerve sarcoid manifesting as an orbital tumor is virtually impossible to diagnose without results of biopsy.

Optic nerve enlargement and chronic visual loss

We present four patients with sarcoidosis of the anterior visual pathways. The first patient presented with unilateral visual loss, a mass lesion at the optic nerve head, and an enlarged orbital optic nerve. The second patient presented with bilateral progressive painless visual loss, associated with optic nerve pallor and visual field loss. In these two patients, optic nerve biopsy was diagnostic of sarcoidosis. The third patient developed optic nerve and chiasmal involvement after sarcoidosis was established by lacrimal gland biopsy. The fourth pateint had optic nerve, pulmonary, and lymph node involvement with sarcoidosis. A conjunctival and lung biopsy were diagnostic. Computed tomography and magnetic resonance imaging have greatly facilitated diagnosis of sarcoidosis of the anterior visual pathways. Sarcoidosis of the anterior visual pathways may occur alone or in association with other ocular or systemic manifestations. A conjunctival or lacrimal gland biopsy may be preferable as the initial diagnostic approach. Treatment of patients with this condition may require systemic immunosuppression, in addition to corticosteroids, to prevent permanent visual loss.

Ganglioglioma of the optic pathway: A case report

A case of ganglioglioma of the optic pathway associated with congenital exophthalmos and strabismus is presented. Since the tumor extended from the right optic nerve to the right geniculate body, it was diagnosed as an optic glioma before operation. However, optic nerve biopsy showed that the lesion was a ganglioglioma. Although a literature review yielded two previous cases of ganglioglioma of the optic pathway, this is the first case in which the tumor involved the whole optic pathway.

Isolated Metastasis to Optic Nerve from Medulloblastoma

Isolated involvement of the optic nerve with metastatic tumor is uncommon. A 19-year-old man had a midline cerebellar medulloblastoma; a gross total removal was performed. He received postoperative radiation therapy to the whole brain, posterior fossa, and craniospinal axis. A progressive optic neuropathy developed 28 months later with radiologic evidence of an enlarged optic nerve. There was no evidence of metastatic disease elsewhere. An optic nerve biopsy showed metastatic medulloblastoma. An intramedullary metastasis developed 48 months after the primary diagnosis, and the patient died 5 months later.

Optic Atrophy Following Prophylactic Chemotherapy and Cranial Radiation for Acute Lymphocytic Leukemia

Two patients with acute lymphocytic leukemia developed progressive optic nerve and chiasmal lesions eight to nine months after the initiation of identical chemotherapy protocols that included intrathecal medication and prophylactic radiation of only 2,400 rads to the central nervous system. Both patients eventually lost all vision despite additional radiotherapy, and there was no evidence of leukemia involving the central nervous system after acute lymphocytic leukemia was diagnosed. Optic nerve biopsy in one case showed changes consistent with radiation necrosis.