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Ophthalmologic school-based screening revealing Kearns-Sayre syndrome: a case report
Kearns-Sayre syndrome is a rare mitochondrial disorder. It had a triad of features, including progressive external ophthalmoplegia, pigmentary retinopathy, and an alteration of cardiac conduction. The ocular manifestations include bilateral ptosis, progressive external ophthalmoplegia, and atypical...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
The African Field Epidemiology Network
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9167473/ https://www.ncbi.nlm.nih.gov/pubmed/35721635 http://dx.doi.org/10.11604/pamj.2022.41.226.33085 |
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author | Ennejjar, Amine Moutamani, Salma Boutaj, Taha Touil, Wiame Amazouzi, Abdellah Cherkaoui, Ouafa |
author_facet | Ennejjar, Amine Moutamani, Salma Boutaj, Taha Touil, Wiame Amazouzi, Abdellah Cherkaoui, Ouafa |
author_sort | Ennejjar, Amine |
collection | PubMed |
description | Kearns-Sayre syndrome is a rare mitochondrial disorder. It had a triad of features, including progressive external ophthalmoplegia, pigmentary retinopathy, and an alteration of cardiac conduction. The ocular manifestations include bilateral ptosis, progressive external ophthalmoplegia, and atypical pigmentary retinopathy. We report the case of a 9-year-old Moroccan patient who has been diagnosed with Kearns-Sayre syndrome during an ophthalmologic school-based screening. This case highlights the interest of school-based screening in the diagnosis and management of a rare disease. |
format | Online Article Text |
id | pubmed-9167473 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | The African Field Epidemiology Network |
record_format | MEDLINE/PubMed |
spelling | pubmed-91674732022-06-17 Ophthalmologic school-based screening revealing Kearns-Sayre syndrome: a case report Ennejjar, Amine Moutamani, Salma Boutaj, Taha Touil, Wiame Amazouzi, Abdellah Cherkaoui, Ouafa Pan Afr Med J Case Report Kearns-Sayre syndrome is a rare mitochondrial disorder. It had a triad of features, including progressive external ophthalmoplegia, pigmentary retinopathy, and an alteration of cardiac conduction. The ocular manifestations include bilateral ptosis, progressive external ophthalmoplegia, and atypical pigmentary retinopathy. We report the case of a 9-year-old Moroccan patient who has been diagnosed with Kearns-Sayre syndrome during an ophthalmologic school-based screening. This case highlights the interest of school-based screening in the diagnosis and management of a rare disease. The African Field Epidemiology Network 2022-03-18 /pmc/articles/PMC9167473/ /pubmed/35721635 http://dx.doi.org/10.11604/pamj.2022.41.226.33085 Text en Copyright: Amine Ennejjar et al. https://creativecommons.org/licenses/by/4.0/The Pan African Medical Journal (ISSN: 1937-8688). This is an Open Access article distributed under the terms of the Creative Commons Attribution International 4.0 License (https://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Case Report Ennejjar, Amine Moutamani, Salma Boutaj, Taha Touil, Wiame Amazouzi, Abdellah Cherkaoui, Ouafa Ophthalmologic school-based screening revealing Kearns-Sayre syndrome: a case report |
title | Ophthalmologic school-based screening revealing Kearns-Sayre syndrome: a case report |
title_full | Ophthalmologic school-based screening revealing Kearns-Sayre syndrome: a case report |
title_fullStr | Ophthalmologic school-based screening revealing Kearns-Sayre syndrome: a case report |
title_full_unstemmed | Ophthalmologic school-based screening revealing Kearns-Sayre syndrome: a case report |
title_short | Ophthalmologic school-based screening revealing Kearns-Sayre syndrome: a case report |
title_sort | ophthalmologic school-based screening revealing kearns-sayre syndrome: a case report |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9167473/ https://www.ncbi.nlm.nih.gov/pubmed/35721635 http://dx.doi.org/10.11604/pamj.2022.41.226.33085 |
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