Fatemeh Bazvand1, Mohammad Keramatipour2, Hamid Riazi-Esfahani1, Alireza Mahmoudi3. 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. 3. Farabi eye hospital, Eye research center, Tehran University of Medical Science, Farabi Eye Hospital, Qazvin square, South Kargar Street, Tehran, Iran. Mahmoudi.alireza86@gmail.com.
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.
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.
Authors: Uirá S Melo; Lucia I Macedo-Souza; Thalita Figueiredo; Alysson R Muotri; Joseph G Gleeson; Gabriela Coux; Pablo Armas; Nora B Calcaterra; João P Kitajima; Simone Amorim; Thiago R Olávio; Karina Griesi-Oliveira; Giuliana C Coatti; Clarissa R R Rocha; Marinalva Martins-Pinheiro; Carlos F M Menck; Maha S Zaki; Fernando Kok; Mayana Zatz; Silvana Santos Journal: Hum Mol Genet Date: 2015-09-18 Impact factor: 6.150
Authors: Paul A Constable; Michael Bach; Laura J Frishman; Brett G Jeffrey; Anthony G Robson Journal: Doc Ophthalmol Date: 2017-01-21 Impact factor: 2.379