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

Overview

Journal Case Rep Genet

Publisher Wiley

Date 2022 May 3

PMID 35502402

Authors

Shir Wey Gloria Pang

Hencher Han Chih Lee

Carol Ng Wing Kei

Eric Kin Cheong Yau

Joannie Hui

Affiliations

Soon will be listed here.

Abstract

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.

Citing Articles

Endocrine disorders in Kearns-Sayre syndrome with different severity of symptoms: two case reports and a literature review.

Amergoolov I, Khruleva Y, Pavlova M, Likhodey N, Sulaev A, Surkova E Eur J Transl Myol. 2024; 34(4.

PMID: 39479991 PMC: 11726174. DOI: 10.4081/ejtm.2024.12897.

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