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Article

SPOAN syndrome: a novel mutation and new ocular findings; a case report.

BMC neurology - 15 Jan 2021

Bazvand Fatemeh, Keramatipour Mohammad, Riazi-Esfahani Hamid, Mahmoudi Alireza

Abstract excerpt

BACKGROUND: To report a novel mutation and new clinical findings in a case with SPOAN syndrome (spastic paraplegia, optic atrophy, neuropathy). CASE PRESENTATION: Clinical examination, genetic testing and electroretinography were used to study a 2-year-old child who was referred to our clinic with no visual attention and documented SPOAN syndrome. Fundoscopy revealed optic atrophy, diffuse retinal pigment...

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Identifiers

PMID: 33451298
DOI: 10.1186/s12883-021-02051-9
PMCID: PMC7809849

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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