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A 19-year-old man presented with 3 years of gradually progressive, painless vision loss in both eyes. The ophthalmic examination showed bilateral diminished visual acuity, dyschromatopsia, and temporal optic nerve pallor. The neurological examination was consistent with a mild myelopathy with decreased pin-prick sensation starting at T6--T7 and descending through the lower extremities. Hyperreflexia was also present in the lower more than upper extremities. Infectious, inflammatory, and nutritional serum workup and cerebrospinal fluid analysis were both unrevealing. MRI of the brain and spinal cord showed abnormal T2 hyperintensity of the fornix, corpus callosum, optic nerves, and lateral columns of the cervical and thoracic spine, with diffusion restriction in the inferior--posterior corpus callosum and fornix. Biotinidase serum enzyme activity was tested and showed a decreased level of activity. Biotinidase gene testing showed a homozygous pathogenic variant, c.424C.A (p.P142T), confirming the diagnosis of biotinidase defi- ciency and prompting oral biotin supplementation. Three months after starting treatment, the patient's visual acuity, color vision, visual fields, and MRI spine abnormalities all improved significantly. Biotinidase deficiency is an important diagnostic consideration in patients with unexplained optic neuropathy and/or myelopathy. [ABSTRACT FROM AUTHOR]

Background: MRI can help distinguish various causes of optic neuropathy including optic neuritis. Importantly, neuromyelitis optica spectrum disorder (NMOSD) has a propensity to cause enhancement of the prechiasmatic optic nerves. To determine whether the prechiasmatic optic nerve (PC-ON) demonstrates a different intensity from the midorbital optic nerve (MO-ON) on MRI among patients without optic neuropathy. Methods: Data were retrospectively obtained from 75 patients who underwent brain MRI for an ocular motor nerve palsy between January 2005 and April 2021. Inclusion criteria were patients aged 18 years or older with visual acuities of at least 20/25 and no evidence of optic neuropathy on neuro-ophthalmic examination. A total of 67 right eyes and 68 left eyes were assessed. A neuroradiologist performed quantitative intensity measurements of the MOON and PC-ON on precontrast and postcontrast T1 axial images. Normal-appearing temporalis muscle intensity was also measured and used as a reference to calculate an intensity ratio to calibrate across images. Results: The mean PC-ON intensity ratio was significantly higher than the MO-ON intensity ratio on both precontrast (19.6%, P, 0.01) and postcontrast images (14.2%, P, 0.01). Age, gender, and laterality did not independently affect measurements. Conclusions: The prechiasmatic optic nerve shows brighter intensity ratios on both precontrast and postcontrast T1 images than the midorbital optic nerve among normal optic nerves. Clinicians should recognize this subtle signa discrepancy when assessing patients with presumed optic neuropathy. [ABSTRACT FROM AUTHOR]

Background: Although nonarteritic anterior ischemic optic neuropathy is a well-known cause of vision loss, it typically presents unilaterally. Simultaneous, bilateral nonarteritic anterior ischemic optic neuropathy (sNAION) is rare and poorly studied in comparison. This study seeks to characterize the clinical features and risk factors of patients with sNAION compared with unilateral NAION (uNAION). Methods: In this retrospective case–control study, we reviewed 76 eyes (38 patients) with sNAION and 38 eyes (38 patients) with uNAION (controls) from 4 academic institutions examined between 2009 and 2020. Demographic information, medical history, medication use, symptom course, paraclinical evaluation, and visual outcomes were collected for all patients. Results: No significant differences were observed in demographics, comorbidities and their treatments, and medication usage between sNAION and uNAION patients. sNAION patients were more likely to undergo an investigative work-up with erythrocyte sedimentation rate measurement (P = 0.0061), temporal artery biopsy (P = 0.013), lumbar puncture (P = 0.013), and MRI (P < 0.0001). There were no significant differences between the 2 groups for visual acuity, mean visual field deviation, peripapillary retinal nerve fiber layer thickness, or ganglion cell-inner plexiform layer thickness at presentation, nor at final visit for those with ≥3 months of follow-up. The sNAION eyes with ≥3 months of follow-up had a smaller cup-to-disc ratio (CDR) at final visit (P = 0.033). Ten patients presented with incipient NAION, of which 9 suffered vision loss by final visit. Conclusion: Aside from CDR differences, the risk factor profile and visual outcomes of sNAION patients seem similar to those of uNAION patients, suggesting similar pathophysiology. [ABSTRACT FROM AUTHOR]

Spinal cord tumors (SCTs) may rarely cause increased intracranial pressure without hydrocephalus (IICPWH). A review of the English literature published after 1970 revealed 29 cases of IICPWH secondary to SCT. The following data were acquired: demographics, tumor characteristics, ophthalmic and neurological manifestations, and cerebral spinal fluid (CSF) features. We summarize the existing literature regarding various theories of pathophysiology, spinal imaging recommendations, and treatment modalities used in managing such patients. Patients with papilledema who also have neurological signs or symptoms of myelopathy or elevated CSF protein particularly in the setting of an atypical demographic for pseudotumor cerebri should raise a suspicion for a spinal tumor and prompt further investigation with a spinal MRI. [ABSTRACT FROM AUTHOR]