Purpose: To describe a case of hereditary spastic ataxia (HSP) presenting with childhood optic nerve atrophy and report a novel homozygous variant in the gene.
Observations: A 57-year-old man suffering from progressive optic nerve atrophy since childhood eventually underwent genetic testing. A targeted whole exome gene sequencing panel for optic neuropathy identified a novel homozygous variant in the gene, c.
Purpose: To present a case of symptomatic optic nerve sheath calcification and highlight clues and pitfalls for the final diagnosis: bilateral optic nerve sheath meningioma.
Observations: A 48-year-old man presented with painless vision loss in his left eye and findings consistent with left optic nerve atrophy. Magnetic resonance imaging (MRI) displayed thinning of the left optic nerve without contrast-enhancement or evidence of compressive lesions.
Background: A possible benefit of optical coherence tomography (OCT) in the approach to tumors involving the optic chiasm may be the ability to foresee visual deterioration. This study investigated the value of OCT in watchful waiting for compressive optic neuropathy as the primary management of suprasellar masses.
Methods: The research was conducted as a 2-year observational study of a patient cohort with conservatively managed mass lesions involving the optic chiasm on MRI.
Objective: To estimate the macular ganglion cell complex (GCC) asymmetry in patients with suprasellar tumours, to compare its diagnostic performance to the nasal GCC thickness and visual field (VF) and to investigate how the parameters correlate with magnetic resonance imaging (MRI) findings.
Methods And Analysis: Cross-sectional study of patients with suprasellar tumours affecting the optic chiasm. Macular optical coherence tomography (OCT) scans were evaluated for nasal GCC sector thinning and loss of normal GCC asymmetry between corresponding nasal-temporal sectors.