Kearns-Sayre syndrome (KSS) is a rare mitochondrial disorder, and the effects of radiotherapy on such a population group are unknown. A 60-year-old male with a history of KSS was diagnosed with locally advanced basal cell carcinoma along the left inner canthus. He was treated at our institution with curative intent radiotherapy alone and tolerated it well with no major acute or late toxicities. There was a complete clinical and radiological response of the tumor, with no evidence of recurrence 2.5 years after treatment. Further research is needed to explore the effects of ionizing radiation on patients with mitochondrial DNA defects.
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http://dx.doi.org/10.7759/cureus.42229 | DOI Listing |
Doc Ophthalmol
December 2024
Save Sight Institute Faculty of Medicine and Health, University of Sydney, Sydney, Australia.
Purpose: Multiple mitochondrial syndromes, such as Kearns-Sayre, involve the concurrence of diabetes mellitus and inherited pigmentary retinopathy. It is rare, however, for proliferative disease to develop in these patients as existing inner retinal dysfunction is thought to be protective.
Methods: To our knowledge this is the first description of proliferative diabetic retinopathy (PDR) in Kearns-Sayre syndrome.
Noncoding RNA
November 2024
Department of Medicine, Division of Cardiology, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.
Primary mitochondrial disease (MD) is a group of rare genetic diseases reported to have a prevalence of 1:5000 and is currently without a cure. This group of diseases includes mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS), maternally inherited diabetes and deafness (MIDD), Leber's hereditary optic neuropathy (LHON), Leigh syndrome (LS), Kearns-Sayre syndrome (KSS), and myoclonic epilepsy and ragged-red fiber disease (MERRF). Additionally, secondary mitochondrial dysfunction has been implicated in the most common current causes of mortality and morbidity, including cardiovascular disease (CVD) and cancer.
View Article and Find Full Text PDFNeuromuscul Disord
December 2024
INMG-PGNM, UMR CNRS 5261 - INSERM U1315, Université Lyon 1, Lyon, France; Centre de Biotechnologie Cellulaire, Hospices Civils De Lyon, Lyon, France.
Eur J Transl Myol
October 2024
Box Hill Hospital, Eastern Health, Melbourne.
Kearns-Sayre Syndrome (KSS) is a variant of mitochondrial disorder caused by a Mitochondrial Deoxyribonucleic Acid (mtDNA) deletion. Clinical manifestations of KSS can include different organ and system involvement. Different organ malfunctions, more often cardiac dysfunction, can lead to death.
View Article and Find Full Text PDFPediatr Blood Cancer
January 2025
Division of Pediatric Hematology and Oncology, The Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Israel.
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