Kearns–Sayre Syndrome Minus: Two Cases of Identical Large-Scale Mitochondrial DNA Deletions with Presentations outside the Classical Triad

A curious triad of retinitis pigmentosa, external ophthalmoplegia, and complete heart block was presented by Sayre et al. in 1958. Since then, the disorder named Kearns–Sayre syndrome (KSS) has come to represent patients with mitochondrial DNA deletions presenting before adulthood, primarily with ch...

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Autores principales: Gloria Pang, Shir Wey, Chih Lee, Hencher Han, Ng Wing kei, Carol, Yau, Eric Kin Cheong, Hui, Joannie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9056216/
https://www.ncbi.nlm.nih.gov/pubmed/35502402
http://dx.doi.org/10.1155/2022/4153357
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author Gloria Pang, Shir Wey
Chih Lee, Hencher Han
Ng Wing kei, Carol
Yau, Eric Kin Cheong
Hui, Joannie
author_facet Gloria Pang, Shir Wey
Chih Lee, Hencher Han
Ng Wing kei, Carol
Yau, Eric Kin Cheong
Hui, Joannie
author_sort Gloria Pang, Shir Wey
collection PubMed
description A curious triad of retinitis pigmentosa, external ophthalmoplegia, and complete heart block was presented by Sayre et al. in 1958. Since then, the disorder named Kearns–Sayre syndrome (KSS) has come to represent patients with mitochondrial DNA deletions presenting before adulthood, primarily with chronic progressive external ophthalmoplegia (CPEO) and pigmentary retinopathy. However, it is increasingly noted that the presentations can well be variable despite similar genetic deletions. Here, we present two cases with identical large-scale mitochondrial DNA deletions but very dissimilar outlook.
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spelling pubmed-90562162022-05-01 Kearns–Sayre Syndrome Minus: Two Cases of Identical Large-Scale Mitochondrial DNA Deletions with Presentations outside the Classical Triad Gloria Pang, Shir Wey Chih Lee, Hencher Han Ng Wing kei, Carol Yau, Eric Kin Cheong Hui, Joannie Case Rep Genet Case Report A curious triad of retinitis pigmentosa, external ophthalmoplegia, and complete heart block was presented by Sayre et al. in 1958. Since then, the disorder named Kearns–Sayre syndrome (KSS) has come to represent patients with mitochondrial DNA deletions presenting before adulthood, primarily with chronic progressive external ophthalmoplegia (CPEO) and pigmentary retinopathy. However, it is increasingly noted that the presentations can well be variable despite similar genetic deletions. Here, we present two cases with identical large-scale mitochondrial DNA deletions but very dissimilar outlook. Hindawi 2022-04-23 /pmc/articles/PMC9056216/ /pubmed/35502402 http://dx.doi.org/10.1155/2022/4153357 Text en Copyright © 2022 Shir Wey Gloria Pang et al. https://creativecommons.org/licenses/by/4.0/This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Gloria Pang, Shir Wey
Chih Lee, Hencher Han
Ng Wing kei, Carol
Yau, Eric Kin Cheong
Hui, Joannie
Kearns–Sayre Syndrome Minus: Two Cases of Identical Large-Scale Mitochondrial DNA Deletions with Presentations outside the Classical Triad
title Kearns–Sayre Syndrome Minus: Two Cases of Identical Large-Scale Mitochondrial DNA Deletions with Presentations outside the Classical Triad
title_full Kearns–Sayre Syndrome Minus: Two Cases of Identical Large-Scale Mitochondrial DNA Deletions with Presentations outside the Classical Triad
title_fullStr Kearns–Sayre Syndrome Minus: Two Cases of Identical Large-Scale Mitochondrial DNA Deletions with Presentations outside the Classical Triad
title_full_unstemmed Kearns–Sayre Syndrome Minus: Two Cases of Identical Large-Scale Mitochondrial DNA Deletions with Presentations outside the Classical Triad
title_short Kearns–Sayre Syndrome Minus: Two Cases of Identical Large-Scale Mitochondrial DNA Deletions with Presentations outside the Classical Triad
title_sort kearns–sayre syndrome minus: two cases of identical large-scale mitochondrial dna deletions with presentations outside the classical triad
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9056216/
https://www.ncbi.nlm.nih.gov/pubmed/35502402
http://dx.doi.org/10.1155/2022/4153357
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