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



Bazvand F¹ ; Keramatipour M² ; Riaziesfahani H¹ ; Mahmoudi A¹
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).