{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,14]],"date-time":"2025-05-14T02:47:24Z","timestamp":1747190844643,"version":"3.40.5"},"reference-count":29,"publisher":"Wiley","license":[{"start":{"date-parts":[[2022,4,23]],"date-time":"2022-04-23T00:00:00Z","timestamp":1650672000000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Case Reports in Genetics"],"published-print":{"date-parts":[[2022,4,23]]},"abstract":"<jats:p>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\u2013Sayre 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.<\/jats:p>","DOI":"10.1155\/2022\/4153357","type":"journal-article","created":{"date-parts":[[2022,4,23]],"date-time":"2022-04-23T18:35:07Z","timestamp":1650738907000},"page":"1-8","source":"Crossref","is-referenced-by-count":1,"title":["Kearns\u2013Sayre Syndrome Minus: Two Cases of Identical Large-Scale Mitochondrial DNA Deletions with Presentations outside the Classical Triad"],"prefix":"10.1155","volume":"2022","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2905-3814","authenticated-orcid":true,"given":"Shir Wey","family":"Gloria Pang","sequence":"first","affiliation":[{"name":"Department of Paediatrics and Adolescent Medicine, Hong Kong Children\u2019s Hospital, Kowloon Bay, Hong Kong"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0162-5681","authenticated-orcid":true,"given":"Hencher Han","family":"Chih Lee","sequence":"additional","affiliation":[{"name":"Department of Pathology, Princess Margaret Hospital, Kwai Chung, Hong Kong"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9066-8180","authenticated-orcid":true,"given":"Carol","family":"Ng Wing kei","sequence":"additional","affiliation":[{"name":"Department of Paediatrics and Adolescent Medicine, Hong Kong Children\u2019s Hospital, Kowloon Bay, Hong Kong"},{"name":"Department of Radiology, Hong Kong Children\u2019s Hospital, Kowloon Bay, Hong Kong"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6546-7902","authenticated-orcid":true,"given":"Eric Kin Cheong","family":"Yau","sequence":"additional","affiliation":[{"name":"Department of Paediatrics and Adolescent Medicine, Princess Margaret Hospital, Kwai Chung, Hong Kong"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7408-9859","authenticated-orcid":true,"given":"Joannie","family":"Hui","sequence":"additional","affiliation":[{"name":"Department of Paediatrics and Adolescent Medicine, Hong Kong Children\u2019s Hospital, Kowloon Bay, Hong Kong"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","reference":[{"key":"1","doi-asserted-by":"publisher","DOI":"10.1001\/archopht.1958.00940080296016"},{"volume-title":"Gene Reviews","year":"2003","author":"S. 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