Article
Spastic Paraplegia Type 7-Associated Optic Neuropathy: A Case Series.
Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society - 1 Dec 2024
Bell Carter A, Ko Melissa W, Mackay Devin D, Bursztyn Lulu L C D, Grossman Scott N
Abstract excerpt
BACKGROUND: Hereditary optic neuropathies comprise a group of clinically and genetically heterogeneous disorders. Optic neuropathy has been previously reported in families with spastic paraplegia type 7 ( SPG7) gene mutations. However, the typical time course and clinical presentation of SPG7 -associated optic neuropathy is poorly understood. We report a series of 5 patients harboring pathogenic SPG7 mutations...
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