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Spastic Paraplegia Type 7-Associated Optic Neuropathy: A Case Series
Carter A Bell1, Melissa W Ko, Devin D Mackay
1Department of Neurology (CAB, SNG), New York University Grossman School of Medicine, New York, New York; Departments of Neurology, Ophthalmology, and Neurosurgery (MWK, DDM), Indiana University School of Medicine, Indianapolis, Indiana; Department of Ophthalmology (LLCDB), Schulich School of Medicine & Dentistry, Western University, London, Canada; and Clinical Neurological Sciences (LLCDB), Western University, London, Canada.
Genetic testing for the SPG7 gene is recommended for patients with unexplained optic neuropathy. This study highlights the phenotypic heterogeneity of SPG7-associated optic neuropathy, which can co-occur with peripheral neuropathy.
Area of Science:
- Ophthalmology
- Genetics
- Neurology
Background:
- Hereditary optic neuropathies are diverse genetic disorders.
- SPG7 gene mutations have been linked to optic neuropathy, but presentation is unclear.
- This study focuses on patients with SPG7 mutations presenting with optic neuropathy.
Purpose of the Study:
- To describe the clinical presentation and genetic findings of SPG7-associated optic neuropathy.
- To investigate the phenotypic heterogeneity within a cohort of patients with SPG7 mutations.
- To assess the potential association between SPG7 mutations, optic neuropathy, and peripheral neuropathy.
Main Methods:
- Retrospective case series of 5 patients with SPG7 mutations and optic atrophy.
- Data collected included demographic, clinical, diagnostic, and treatment information.
- Neuro-ophthalmic examinations, visual field testing, and optical coherence tomography were performed.
Main Results:
- Five patients (ages 8-48) presented with progressive, typically bilateral, vision loss.
- All patients had pathogenic SPG7 variants; three carried the Ala510Val variant.
- Four patients had a prior diagnosis of peripheral neuropathy, suggesting a potential dual association.
Conclusions:
- SPG7 testing should be considered for unexplained progressive optic neuropathies.
- SPG7-associated optic neuropathy is phenotypically heterogeneous.
- SPG7 mutations may be linked to both optic and peripheral neuropathy.
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