Faculty Bibliography

Patients with signs and symptoms consistent with acute monosymptomatic optic neuritis should undergo evaluation with gadolinium-enhanced MRI of the brain and orbits to determine whether or not they are at high risk for the development of clinically definite multiple sclerosis (CDMS). The presence of two or more white matter lesions (3 mm or larger in diameter, at least one lesion periventricular or ovoid) suggests high risk for CDMS, and should prompt immediate treatment as follows: Intravenous methylprednisolone sodium succinate (1 g intravenously per day for 3 days) followed by oral prednisone (1 mg/kg per day for 11 days) with a 4-day taper (20 mg on day 1, 10 mg on days 2 and 4). Interferon beta 1-a, which has been demonstrated to significantly reduce the 3-year probability of the development of CDMS and the development of clinically silent MRI lesions in high-risk patients with acute optic neuritis, should be considered following IV methylprednisolone treatment (30 &mgr;g intramuscularly weekly). In monosymptomatic patients with fewer than two white matter lesions by MRI, and in patients for whom a diagnosis of CDMS has been established, treatment with IV methylprednisolone followed by oral prednisone (as outlined), should be considered on an individual basis and may hasten visual recovery, but has not been demonstrated to affect long-term visual outcome. In all cases of typical acute monosymptomatic demyelinating optic neuritis, oral prednisone alone at a dose of 1 mg/kg per day, without prior treatment with IV methylprednisolone (1 g per day for 3 days), may increase the risk for recurrent optic neuritis, and should be avoided.

We report two patients who developed isolated visual symptoms and signs as initial manifestations of Creutzfeldt-Jakob disease (CJD). Both patients had normal conventional T1- and T2-weighted brain magnetic resonance (MR) images; in one patient, early cortical abnormalities were detected by diffusion-weighted and fluid attenuated inversion recovery (FLAIR) magnetic resonance imaging (MRI). Results from the cerebrospinal fluid assay for the 14-3-3 brain protein were also negative in one patient, despite pathologic confirmation of CJD at autopsy. The Heidenhain variant of CJD should be considered in all patients who present with isolated visual manifestations, including homonymous hemianopsia and normal conventional brain MRI. Diffusion-weighted and FLAIR MRI may demonstrate early cortical abnormalities in patients with CJD. The CSF assay for the 14-3-3 protein may be normal, even in pathologically confirmed cases.

PURPOSE: To examine the potential for visual acuity loss, and its relation to extent and location of optic pathway gliomas in a cohort of children with neurofibromatosis type 1 studied with magnetic resonance imaging. METHODS: We reviewed the neuro-ophthalmologic records and brain/orbital magnetic resonance imaging scans for 43 consecutive pediatric patients with neurofibromatosis type 1 and optic pathway gliomas who were followed at the Children's Hospital of Philadelphia. The presence of visual loss, defined as abnormal visual acuity for age in one or both eyes, was determined. Optic pathway gliomas were classified by tumor extent and location according to involvement of the optic nerves, chiasm, and postchiasmal structures by magnetic resonance imaging. RESULTS: Involvement of the optic tracts and other postchiasmal structures at tumor diagnosis was associated with a significantly higher probability of visual acuity loss (P =.048, chi-square test). Visual loss was noted in 20 of 43 patients (47%) at a median age of 4 years; however, three patients developed visual acuity loss for the first time during adolescence. CONCLUSIONS: In pediatric patients with neurofibromatosis type 1 and optic pathway gliomas, the likelihood of visual loss is dependent on the extent and location of the tumor by magnetic resonance imaging and is particularly associated with involvement of postchiasmal structures. Furthermore, older age during childhood (adolescence) does not preclude the occurrence of visual loss. Close follow-up beyond the early childhood years, particularly for those with postchiasmal tumor, is recommended.

We describe a 45-year-old man with biopsy proven cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). This patient demonstrated unique retinal findings, including arteriole narrowing and sheathing, irregular choroidal filling on fluorescein angiography, and patchy visual field loss. CADASIL is a hereditary, nonamyloid, nonathersclerotic microangiopathy. This disorder has been mapped to chromosome 19 with mutations in the Notch 3 gene. Deposits of granular osmiophilic material in the basal lamina of the smooth muscle cells of small vessels are considered pathognomonic for CADASIL and are typically seen only on electron microscopy. Although CADASIL is a systemic vascular disease affecting the entire arteriole tree, we are unaware of other reports describing the retinal findings observed in our patient.

Neuro-ophthalmologic disorders, affecting the afferent and efferent visual systems, are frequently encountered by ophthalmologists in clinical practice. This article focuses on aspects of ocular, orbital, and neuroanatomy that are most important to the diagnosis of afferent and efferent visual pathway lesions. The use of optic disc and fundus appearance, visual fields, and ocular motility and pupillary findings are emphasized in the discussions of topographical diagnosis.

The clinical characteristics, differential diagnosis, and treatment options are presented for five different categories of neuro-ophthalmic disease. Nystagmus, optic neuritis, diplopia, pseudotumor cerebri, and temporal arteritis, are frequently encountered in neuro-ophthalmic practice. This article focuses on current therapies for these neuro-ophthalmic disorders. Potential differences in approach to pediatric versus adult patients are emphasized.

Visual impairment is one of the most common clinical manifestations of Multiple Sclerosis (MS), and is strongly related to overall health-related quality of life (HRQOL) in MS and other disorders. However, the assessment of vision-specific HRQOL in patients with MS has been limited. The purpose of this study was to examine self-reported visual dysfunction in a clinically heterogeneous MS cohort using the 25-Item National Eye Institute Visual Function Questionnaire (VFQ-25). The VFQ-25 was administered by telephone interview to a subset of participants in a follow-up study to a phase III trial of interferon beta-1a for relapsing-remitting MS. Mean VFQ-25 composite scores and selected sub-scale scores were significantly lower (worse) among patients in our MS cohort (n=35) compared with a published reference group of patients with no history of chronic eye disease (n= 118). These differences were observed despite a relatively younger age and tighter distribution of binocular visual acuities in the MS cohort Patients with MS in this study thus demonstrated a greater degree of self-reported visual dysfunction, as measured by the VFQ-25, compared with an eye disease-free reference group. The VFQ-25 is a potentially useful measure of vision-specific HRQOL in patients with MS.

Multiple myeloma and plasmacytoma are rare causes of mass lesions at the skull base and cavernous sinus. Sixth nerve palsy, in isolation or in combination with other cranial neuropathies, may occur rarely as the initial presenting feature of multiple myeloma. We report the neuro-ophthalmologic, radiologic, and pathologic findings for two patients who developed sixth nerve palsies as an initial manifestation of intracranial plasmacytoma and multiple myeloma. One patient presented with an isolated sixth nerve palsy in the setting of multiple vasculopathic risk factors. Treatable skull base lesions, including plasmacytoma and multiple myeloma, must be considered in patients with sixth nerve palsies, especially among those who demonstrate a progressive course or multiple cranial neuropathies.

AIM: This study was designed to test the ability of a portable computer driven, head mounted visual field testing system to perform automated perimetry on patients at their bedside and to compare these results with the "gold standard" for bedside examinations, confrontation visual fields. METHODS: The Kasha visual field system is a portable automated perimeter which utilises a virtual reality headset. 37 neurosurgery patients were examined at their bedside with a central 24 degree suprathreshold testing strategy after confrontation visual field testing. The patterns of visual field defects were categorised and compared with the results of confrontation testing. RESULTS: A total of 42 field examinations were completed on 37 patients, and the average testing time for both eyes was 4.8 minutes with the perimetry system. Each of the 11 fields (100%) classified with defects on confrontation testing was similarly categorised on head mounted perimetry. 26 out of 31 (84%) visual fields were normal on both confrontation and perimetry testing, while five out of the 31 fields (16%) which were full on confrontation had visual field defects identified by head mounted perimetry. CONCLUSION: The head mounted, automated perimetry system proved easily portable and convenient for examining neurosurgical patients at their bedside in the perioperative period. The device demonstrated equal sensitivity to confrontation visual field testing methods in detecting field defects and offers the advantage of standardised, quantifiable testing with graphic results for follow up examinations.