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The rare Axenfeld–Rieger syndrome with systemic anomalies: A case report and brief review of literature
RATIONALE: Axenfeld–Rieger syndrome (ARS) is a rare autosomal dominant disorder with ocular anterior segment dysgenesis and systemic anomalies. PATIENT CONCERNS: A 28-year-old Chinese Han female was referred to Beijing Tongren Eye Center for progressive decrease of the visual acuity on her right eye...
Autores principales: | , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Wolters Kluwer Health
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5571701/ https://www.ncbi.nlm.nih.gov/pubmed/28816964 http://dx.doi.org/10.1097/MD.0000000000007791 |
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author | Song, Wei Hu, Xiaodan |
author_facet | Song, Wei Hu, Xiaodan |
author_sort | Song, Wei |
collection | PubMed |
description | RATIONALE: Axenfeld–Rieger syndrome (ARS) is a rare autosomal dominant disorder with ocular anterior segment dysgenesis and systemic anomalies. PATIENT CONCERNS: A 28-year-old Chinese Han female was referred to Beijing Tongren Eye Center for progressive decrease of the visual acuity on her right eye in the past month. DIAGNOSES: The patient was diagnosed as ARS with retinal detachment based on series of ophthalmic examinations performed. INTERVENTIONS: A pars plana vitrectomy was performed to manage the retinal detachment. OUTCOMES: Her best-corrected visual acuity was slightly improved after surgery. LESSONS: ARS is a developmental defect of ocular anterior segment with various clinical manifestations which might cause misdiagnosis. |
format | Online Article Text |
id | pubmed-5571701 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2017 |
publisher | Wolters Kluwer Health |
record_format | MEDLINE/PubMed |
spelling | pubmed-55717012017-09-07 The rare Axenfeld–Rieger syndrome with systemic anomalies: A case report and brief review of literature Song, Wei Hu, Xiaodan Medicine (Baltimore) 5800 RATIONALE: Axenfeld–Rieger syndrome (ARS) is a rare autosomal dominant disorder with ocular anterior segment dysgenesis and systemic anomalies. PATIENT CONCERNS: A 28-year-old Chinese Han female was referred to Beijing Tongren Eye Center for progressive decrease of the visual acuity on her right eye in the past month. DIAGNOSES: The patient was diagnosed as ARS with retinal detachment based on series of ophthalmic examinations performed. INTERVENTIONS: A pars plana vitrectomy was performed to manage the retinal detachment. OUTCOMES: Her best-corrected visual acuity was slightly improved after surgery. LESSONS: ARS is a developmental defect of ocular anterior segment with various clinical manifestations which might cause misdiagnosis. Wolters Kluwer Health 2017-08-18 /pmc/articles/PMC5571701/ /pubmed/28816964 http://dx.doi.org/10.1097/MD.0000000000007791 Text en Copyright © 2017 the Author(s). Published by Wolters Kluwer Health, Inc. http://creativecommons.org/licenses/by-nc-nd/4.0 This is an open access article distributed under the terms of the Creative Commons Attribution-Non Commercial-No Derivatives License 4.0 (CCBY-NC-ND), where it is permissible to download and share the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal. http://creativecommons.org/licenses/by-nc-nd/4.0 |
spellingShingle | 5800 Song, Wei Hu, Xiaodan The rare Axenfeld–Rieger syndrome with systemic anomalies: A case report and brief review of literature |
title | The rare Axenfeld–Rieger syndrome with systemic anomalies: A case report and brief review of literature |
title_full | The rare Axenfeld–Rieger syndrome with systemic anomalies: A case report and brief review of literature |
title_fullStr | The rare Axenfeld–Rieger syndrome with systemic anomalies: A case report and brief review of literature |
title_full_unstemmed | The rare Axenfeld–Rieger syndrome with systemic anomalies: A case report and brief review of literature |
title_short | The rare Axenfeld–Rieger syndrome with systemic anomalies: A case report and brief review of literature |
title_sort | rare axenfeld–rieger syndrome with systemic anomalies: a case report and brief review of literature |
topic | 5800 |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5571701/ https://www.ncbi.nlm.nih.gov/pubmed/28816964 http://dx.doi.org/10.1097/MD.0000000000007791 |
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