A novel homozygous variant in the SPG7 gene presenting with childhood optic nerve atrophy
Purpose: To describe a case of hereditary spastic ataxia (HSP) presenting with childhood optic nerve atrophy and report a novel homozygous variant in the SPG7 gene. Observations: A 57-year-old man suffering from progressive optic nerve atrophy since childhood eventually underwent genetic testing. A...
Main Authors: | Kathrine O. Eriksen, Andreas Reidar Wigers, Iselin Marie Wedding, Anne Kjersti Erichsen, Tuva Barøy, Kristoffer Søberg, Øystein Kalsnes Jørstad |
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Format: | Article |
Language: | English |
Published: |
Elsevier
2022-06-01
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Series: | American Journal of Ophthalmology Case Reports |
Subjects: | |
Online Access: | http://www.sciencedirect.com/science/article/pii/S2451993622001463 |
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