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...
| Main Authors: | , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
BMC
2021-01-01
|
| Series: | BMC Neurology |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s12883-021-02051-9 |
| _version_ | 1828947817376251904 |
|---|---|
| author | Fatemeh Bazvand Mohammad Keramatipour Hamid Riazi-Esfahani Alireza Mahmoudi |
| author_facet | Fatemeh Bazvand Mohammad Keramatipour Hamid Riazi-Esfahani Alireza Mahmoudi |
| author_sort | Fatemeh Bazvand |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-14T05:36:13Z |
| format | Article |
| id | doaj.art-0b67351d3ed24de78fa0f69544276d4f |
| institution | Directory Open Access Journal |
| issn | 1471-2377 |
| language | English |
| last_indexed | 2024-12-14T05:36:13Z |
| publishDate | 2021-01-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Neurology |
| spelling | doaj.art-0b67351d3ed24de78fa0f69544276d4f2022-12-21T23:15:10ZengBMCBMC Neurology1471-23772021-01-012111510.1186/s12883-021-02051-9SPOAN syndrome: a novel mutation and new ocular findings; a case reportFatemeh Bazvand0Mohammad Keramatipour1Hamid Riazi-Esfahani2Alireza Mahmoudi3Farabi eye hospital, Eye research center, Tehran University of Medical ScienceDepartment of Medical Genetics, Faculty of Medicine, Tehran University of Medical SciencesFarabi eye hospital, Eye research center, Tehran University of Medical ScienceFarabi eye hospital, Eye research center, Tehran University of Medical ScienceAbstract 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.https://doi.org/10.1186/s12883-021-02051-9SPOAN syndromeRetinopathyElectroretinography |
| spellingShingle | Fatemeh Bazvand Mohammad Keramatipour Hamid Riazi-Esfahani Alireza Mahmoudi SPOAN syndrome: a novel mutation and new ocular findings; a case report BMC Neurology SPOAN syndrome Retinopathy Electroretinography |
| 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 | SPOAN syndrome Retinopathy Electroretinography |
| url | https://doi.org/10.1186/s12883-021-02051-9 |
| work_keys_str_mv | AT fatemehbazvand spoansyndromeanovelmutationandnewocularfindingsacasereport AT mohammadkeramatipour spoansyndromeanovelmutationandnewocularfindingsacasereport AT hamidriaziesfahani spoansyndromeanovelmutationandnewocularfindingsacasereport AT alirezamahmoudi spoansyndromeanovelmutationandnewocularfindingsacasereport |