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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...

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Detalles Bibliográficos
Autores principales: Ennejjar, Amine, Moutamani, Salma, Boutaj, Taha, Touil, Wiame, Amazouzi, Abdellah, Cherkaoui, Ouafa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The African Field Epidemiology Network 2022
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
Descripción
Sumario: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.