Cargando…
Goldmann-Favre/Enhanced S Cone Syndrome, 30 years mysdiagnosed as gyrate atrophy
PURPOSE: Case report of a Goldmann-Favre/Enhanced S Cone syndrome (GFS/ESCS) misdiagnosed for 30 years. OBSERVATIONS: Clinical case, the patient had been experiencing with poor nocturnal visual acuity since childhood. The fundus examination showed extensive areas of peripheral chorioretinal atrophy...
Autores principales: | , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2021
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7876538/ https://www.ncbi.nlm.nih.gov/pubmed/33604489 http://dx.doi.org/10.1016/j.ajoc.2021.101028 |
_version_ | 1783649995770036224 |
---|---|
author | García Caride, Sara López Guajardo, Lorenzo Donate López, Juan |
author_facet | García Caride, Sara López Guajardo, Lorenzo Donate López, Juan |
author_sort | García Caride, Sara |
collection | PubMed |
description | PURPOSE: Case report of a Goldmann-Favre/Enhanced S Cone syndrome (GFS/ESCS) misdiagnosed for 30 years. OBSERVATIONS: Clinical case, the patient had been experiencing with poor nocturnal visual acuity since childhood. The fundus examination showed extensive areas of peripheral chorioretinal atrophy with posterior demarcation borders, and a clinical diagnosis of gyrate atrophy was established, although normal levels of ornithine should have made this diagnosis doubtful. 30 years later it was reassessed with electrophysiologic and genetic studies and diagnosed as Goldman-Favre/Enhanced S Cone Syndrome (GFS/ESCS). CONCLUSIONS AND IMPORTANCE: High phenotypic variability of GFS/ESCS makes it difficult to distinguish clinically from diseases such as retinitis pigmentosa, congenital retinoschisis, and gyrate atrophy. Electrophysiology and genetic studies aid in diagnosis. GFS/ESCS is a clinical diagnosis and should be suspected before molecular test. We present a novel mutation for this disease. |
format | Online Article Text |
id | pubmed-7876538 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | Elsevier |
record_format | MEDLINE/PubMed |
spelling | pubmed-78765382021-02-17 Goldmann-Favre/Enhanced S Cone Syndrome, 30 years mysdiagnosed as gyrate atrophy García Caride, Sara López Guajardo, Lorenzo Donate López, Juan Am J Ophthalmol Case Rep Case Report PURPOSE: Case report of a Goldmann-Favre/Enhanced S Cone syndrome (GFS/ESCS) misdiagnosed for 30 years. OBSERVATIONS: Clinical case, the patient had been experiencing with poor nocturnal visual acuity since childhood. The fundus examination showed extensive areas of peripheral chorioretinal atrophy with posterior demarcation borders, and a clinical diagnosis of gyrate atrophy was established, although normal levels of ornithine should have made this diagnosis doubtful. 30 years later it was reassessed with electrophysiologic and genetic studies and diagnosed as Goldman-Favre/Enhanced S Cone Syndrome (GFS/ESCS). CONCLUSIONS AND IMPORTANCE: High phenotypic variability of GFS/ESCS makes it difficult to distinguish clinically from diseases such as retinitis pigmentosa, congenital retinoschisis, and gyrate atrophy. Electrophysiology and genetic studies aid in diagnosis. GFS/ESCS is a clinical diagnosis and should be suspected before molecular test. We present a novel mutation for this disease. Elsevier 2021-02-04 /pmc/articles/PMC7876538/ /pubmed/33604489 http://dx.doi.org/10.1016/j.ajoc.2021.101028 Text en © 2021 Published by Elsevier Inc. http://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/). |
spellingShingle | Case Report García Caride, Sara López Guajardo, Lorenzo Donate López, Juan Goldmann-Favre/Enhanced S Cone Syndrome, 30 years mysdiagnosed as gyrate atrophy |
title | Goldmann-Favre/Enhanced S Cone Syndrome, 30 years mysdiagnosed as gyrate atrophy |
title_full | Goldmann-Favre/Enhanced S Cone Syndrome, 30 years mysdiagnosed as gyrate atrophy |
title_fullStr | Goldmann-Favre/Enhanced S Cone Syndrome, 30 years mysdiagnosed as gyrate atrophy |
title_full_unstemmed | Goldmann-Favre/Enhanced S Cone Syndrome, 30 years mysdiagnosed as gyrate atrophy |
title_short | Goldmann-Favre/Enhanced S Cone Syndrome, 30 years mysdiagnosed as gyrate atrophy |
title_sort | goldmann-favre/enhanced s cone syndrome, 30 years mysdiagnosed as gyrate atrophy |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7876538/ https://www.ncbi.nlm.nih.gov/pubmed/33604489 http://dx.doi.org/10.1016/j.ajoc.2021.101028 |
work_keys_str_mv | AT garciacaridesara goldmannfavreenhancedsconesyndrome30yearsmysdiagnosedasgyrateatrophy AT lopezguajardolorenzo goldmannfavreenhancedsconesyndrome30yearsmysdiagnosedasgyrateatrophy AT donatelopezjuan goldmannfavreenhancedsconesyndrome30yearsmysdiagnosedasgyrateatrophy |