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

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 n...

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Autores principales: Bazvand, Fatemeh, Keramatipour, Mohammad, Riazi-Esfahani, Hamid, Mahmoudi, Alireza
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7809849/
https://www.ncbi.nlm.nih.gov/pubmed/33451298
http://dx.doi.org/10.1186/s12883-021-02051-9
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author Bazvand, Fatemeh
Keramatipour, Mohammad
Riazi-Esfahani, Hamid
Mahmoudi, Alireza
author_facet Bazvand, Fatemeh
Keramatipour, Mohammad
Riazi-Esfahani, Hamid
Mahmoudi, Alireza
author_sort Bazvand, Fatemeh
collection PubMed
description 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 mottling, severe vascular attenuation, and completely non-vascularized peripheral retina in both eyes. Full-field electroretinogram (ERG) revealed flat responses. CONCLUSIONS: Severe retinopathy and flat full-field ERG responses can occur in SPOAN syndrome.
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spelling pubmed-78098492021-01-18 SPOAN syndrome: a novel mutation and new ocular findings; a case report Bazvand, Fatemeh Keramatipour, Mohammad Riazi-Esfahani, Hamid Mahmoudi, Alireza BMC Neurol Case Report 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 mottling, severe vascular attenuation, and completely non-vascularized peripheral retina in both eyes. Full-field electroretinogram (ERG) revealed flat responses. CONCLUSIONS: Severe retinopathy and flat full-field ERG responses can occur in SPOAN syndrome. BioMed Central 2021-01-15 /pmc/articles/PMC7809849/ /pubmed/33451298 http://dx.doi.org/10.1186/s12883-021-02051-9 Text en © The Author(s) 2021 Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data.
spellingShingle Case Report
Bazvand, Fatemeh
Keramatipour, Mohammad
Riazi-Esfahani, Hamid
Mahmoudi, Alireza
SPOAN syndrome: a novel mutation and new ocular findings; a case report
title SPOAN syndrome: a novel mutation and new ocular findings; a case report
title_full SPOAN syndrome: a novel mutation and new ocular findings; a case report
title_fullStr SPOAN syndrome: a novel mutation and new ocular findings; a case report
title_full_unstemmed SPOAN syndrome: a novel mutation and new ocular findings; a case report
title_short SPOAN syndrome: a novel mutation and new ocular findings; a case report
title_sort spoan syndrome: a novel mutation and new ocular findings; a case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7809849/
https://www.ncbi.nlm.nih.gov/pubmed/33451298
http://dx.doi.org/10.1186/s12883-021-02051-9
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