Spoan Syndrome: A Novel Mutation and New Ocular Findings; a Case Report

Spoan Syndrome: A Novel Mutation and New Ocular Findings; a Case Report Publisher Pubmed

Bazvand F¹ ; Keramatipour M² ; Riaziesfahani H¹ ; Mahmoudi A¹

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1. Farabi eye hospital, Eye research center, Tehran University of Medical Science, Farabi Eye Hospital, Qazvin square, South Kargar Street, Tehran, Iran
2. Department of Medical Genetics, Faculty of Medicine, Tehran University of Medical Sciences, Tehran, Iran

Source: BMC Neurology Published:2021

Abstract

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. © 2021, The Author(s).

Style	Citing Format
MLA	Bazvand F, et al.. "Spoan Syndrome: A Novel Mutation and New Ocular Findings; a Case Report." BMC Neurology, vol. 21, no. 1, 2021, pp. -.
APA	Bazvand F, Keramatipour M, Riaziesfahani H, Mahmoudi A (2021). Spoan Syndrome: A Novel Mutation and New Ocular Findings; a Case Report. BMC Neurology, 21(1), -.
Chicago	Bazvand F, Keramatipour M, Riaziesfahani H, Mahmoudi A. "Spoan Syndrome: A Novel Mutation and New Ocular Findings; a Case Report." BMC Neurology 21, no. 1 (2021): -.
Harvard	Bazvand F et al. (2021) 'Spoan Syndrome: A Novel Mutation and New Ocular Findings; a Case Report', BMC Neurology, 21(1), pp. -.
Vancouver	Bazvand F, Keramatipour M, Riaziesfahani H, Mahmoudi A. Spoan Syndrome: A Novel Mutation and New Ocular Findings; a Case Report. BMC Neurology. 2021;21(1):-.
BibTex	@article{ author = {Bazvand F and Keramatipour M and Riaziesfahani H and Mahmoudi A}, title = {Spoan Syndrome: A Novel Mutation and New Ocular Findings; a Case Report}, journal = {BMC Neurology}, volume = {21}, number = {1}, pages = {-}, year = {2021} }
RIS	TY - JOUR AU - Bazvand F AU - Keramatipour M AU - Riaziesfahani H AU - Mahmoudi A TI - Spoan Syndrome: A Novel Mutation and New Ocular Findings; a Case Report JO - BMC Neurology VL - 21 IS - 1 SP - EP - PY - 2021 ER -

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