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

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

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...

Full description

Bibliographic Details
Main Authors: Fatemeh Bazvand, Mohammad Keramatipour, Hamid Riazi-Esfahani, Alireza Mahmoudi
Format: Article
Language:English
Published: BMC 2021-01-01
Series:BMC Neurology
Subjects:
SPOAN syndrome
Retinopathy
Electroretinography
Online Access:https://doi.org/10.1186/s12883-021-02051-9
Description
Summary: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.
ISSN:1471-2377

Similar Items