Research & Literature

A rare case of Kearns-Sayre syndrome in a 17-year-old Venezuelan male with bilateral ptosis as the initial presentation.

Leal M, Dhoble C, Lee J, et al.

Oxford medical case reports 2016; (2016(3)):34-6 doi:10.1093/omcr/omw007.

Clinical and Brain Magnetic Resonance Imaging Features in a Cohort of Chinese Patients with Kearns-Sayre Syndrome.

Yu M, Zhang Z, Wang QQ, et al.

Chinese medical journal 2016; (129(12)):1419-24 doi:10.4103/0366-6999.183417.

A case of hypopituitarism accompanying Kearns-Sayre syndrome treated with human chorionic gonadotropin: A case report and literature review.

Kang YX, Wang YJ, Zhang Q, et al.

Andrologia 2017; (49(8)) doi:10.1111/and.12711.

Corneal Involvement in Kearns-Sayre Syndrome Responsive to Coenzyme-Q?

Finsterer J, Zarrouk-Mahjoub S

Cornea 2016; (35(12)):e39 doi:10.1097/ICO.0000000000001043.

Response to Growth hormone deficiency in mitochondrial disorders.

Quintos JB, Hodax JK, Gonzales-Ellis BA, et al.

Journal of pediatric endocrinology & metabolism : JPEM 2017; (30(4)):483-484.

Macular findings in Spectral Domain Optical Coherence Tomography and OCT Angiography in a patient with Kearns-Sayre syndrome.

Ortiz A, Arias J, Cárdenas P, et al.

International journal of retina and vitreous 2017; (3()):24 doi:10.1186/s40942-017-0077-8.

Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society.

Parikh S, Goldstein A, Karaa A, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2017; (19(12)) doi:10.1038/gim.2017.107.

Pearson syndrome.

Farruggia P, Di Marco F, Dufour C

Expert review of hematology 2018; (11(3)):239-246 doi:10.1080/17474086.2018.1426454.

Diagnose Kearns-Sayre syndrome genetically and investigate the phenotype comprehensively.

Finsterer J, Zarrouk-Mahjoub S

Oxford medical case reports 2016; (2016(8)):omw059 doi:10.1093/omcr/omw059.

Diagnostic odyssey of patients with mitochondrial disease: Results of a survey.

Grier J, Hirano M, Karaa A, et al.

Neurology. Genetics 2018; (4(2)):e230 doi:10.1212/NXG.0000000000000230.

Heart Block, Ptosis, and Diagnostic Funduscopic Examination: Problems of the Heart Seen Through the Eyes.

Ramcharan CR

The Canadian journal of cardiology 2018; (34(5)):690.e1-690.e3 doi:10.1016/j.cjca.2018.02.007.

Prophylactic pacemaker placement at first signs of conduction disease in Kearns-Sayre syndrome.

Trivedi M, Goldstein A, Arora G

Cardiology in the young 2018; (28(12)):1487-1488 doi:10.1017/S1047951118001609.

Ophthalmoplegia in Mitochondrial Disease.

Lee SJ, Na JH, Han J, Lee YM

Yonsei medical journal 2018; (59(10)):1190-1196 doi:10.3349/ymj.2018.59.10.1190.

Diagnosis, management, and follow-up of mitochondrial disorders in childhood: a personalized medicine in the new era of genome sequence.

Paiva Coelho M, Martins E, Vilarinho L

European journal of pediatrics 2019; (178(1)):21-32 doi:10.1007/s00431-018-3292-x.

Teaching NeuroImages: Kearns-Sayre syndrome.

Nguyen MTB, Micieli J, Margolin E

Neurology 2019; (92(5)):e519-e520 doi:10.1212/WNL.0000000000006861.

The necessity of implantable cardioverter defibrillators in patients with Kearns-Sayre syndrome - systematic review of the articles.

Imamura T, Sumitomo N, Muraji S, et al.

International journal of cardiology 2019; (279()):105-111 doi:10.1016/j.ijcard.2018.12.064.

Exophthalmos in Kearns-Sayre syndrome.

Tauber J, Polla DJ, Park S

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus 2019; (23(5)):295-297 doi:10.1016/j.jaapos.2019.05.005.

Growth and differentiation factor 15 as a biomarker for mitochondrial myopathy.

Poulsen NS, Madsen KL, Hornsyld TM, et al.

Mitochondrion 2020; (50()):35-41 doi:10.1016/j.mito.2019.10.005.

Broadening the phenotypic spectrum of Pearson syndrome: Five new cases and a review of the literature.

Wild KT, Goldstein AC, Muraresku C, Ganetzky RD

American journal of medical genetics. Part A 2020; (182(2)):365-373 doi:10.1002/ajmg.a.61433.

Unusual Phenotype and Disease Trajectory in Kearns-Sayre Syndrome.

Finsterer J, Winklehner M, Stöllberger C, Hummel T

Case reports in neurological medicine 2020; (2020()):7368527 doi:10.1155/2020/7368527.

Mitochondrial diseases in adults.

La Morgia C, Maresca A, Caporali L, et al.

Journal of internal medicine 2020; (287(6)):592-608 doi:10.1111/joim.13064.

Clinical Phenotype and Genetic Features of a Pair of Chinese Twins with Kearns-Sayre Syndrome.

Guo L, Wang X, Ji H

DNA and cell biology 2020; (39(8)):1449-1457 doi:10.1089/dna.2019.5010.

Mitochondrial DNA deletion and duplication in Kearns-Sayre Syndrome (KSS) with initial presentation as Pearson Marrow-Pancreas Syndrome (PMPS): Two case reports in Barranquilla, Colombia.

Sabella-Jiménez V, Otero-Herrera C, Silvera-Redondo C, Garavito-Galofre P

Molecular genetics & genomic medicine 2020; (8(11)):e1509 doi:10.1002/mgg3.1509.

The Phenotypic Spectrum of 47 Czech Patients with Single, Large-Scale Mitochondrial DNA Deletions.

Anteneová N, Kelifová S, Kolářová H, et al.

Brain sciences 2020; (10(11)) doi:10.3390/brainsci10110766.

Progressive involvement of cardiac conduction system in paediatric patients with Kearns-Sayre syndrome: how to predict occurrence of complete heart block and sudden cardiac death?

Di Mambro C, Tamborrino PP, Silvetti MS, et al.

Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology 2021; (23(6)):948-957 doi:10.1093/europace/euaa335.

Nutritional issues in a diabetic patient with Kearns-Sayre syndrome.

Szwilling A, Dzygalo K, Nowaczyk J

Endocrinology, diabetes & metabolism case reports 2020; (2020()).

Serum biomarkers in primary mitochondrial disorders.

Varhaug KN, Hikmat O, Nakkestad HL, et al.

Brain communications 2021; (3(1)):fcaa222 doi:10.1093/braincomms/fcaa222.

PINK1 and parkin shape the organism-wide distribution of a deleterious mitochondrial genome.

Ahier A, Dai CY, Kirmes I, et al.

Cell reports 2021; (35(9)):109203 doi:10.1016/j.celrep.2021.109203.

Ageing with neuromuscular disease: Implications for a lifeworld-led care through a humanising approach.

Møller LA, Martinsen B, Werlauf U, Dreyer P

Journal of clinical nursing 2022; (31(17-18)):2507-2517 doi:10.1111/jocn.16065.

Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study.

Schon KR, Horvath R, Wei W, et al.

BMJ (Clinical research ed.) 2021; (375()):e066288 doi:10.1136/bmj-2021-066288.

Whole Mitochondrial Genome Analysis in Turkish Patients with Mitochondrial Diseases

Gencer Öncül EB, Duman D, Eminoğlu FT, et al.

Balkan medical journal 2022; (39(2)):96-106 doi:10.5152/balkanmedj.2021.21141.

Should Patients with Kearns-Sayre Syndrome and Corneal Endothelial Failure Be Genotyped for a TCF4 Trinucleotide Repeat, Commonly Associated with Fuchs Endothelial Corneal Dystrophy?

Dudakova L, Skalicka P, Davidson AE, et al.

Genes 2021; (12(12)) doi:10.3390/genes12121918.

Kearns-Sayre syndrome: expanding spectrum of a "novel" mitochondrial leukomyeloencephalopathy.

Moscatelli M, Ardissone A, Lamantea E, et al.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2022; (43(3)):2081-2084 doi:10.1007/s10072-022-05881-8.

Kearns-Sayre syndrome with a novel large-scale deletion: a case report.

Zhu Q, Chen C, Yao J

BMC ophthalmology 2022; (22(1)):35 doi:10.1186/s12886-021-02224-7.

Kearns-Sayre syndrome with rare imaging finding of SLC25A4 Mutation.

Zhao H, Shi M, Yang F, Yang X

Neurosciences (Riyadh, Saudi Arabia) 2022; (27(2)):111-115 doi:10.17712/nsj.2022.2.20210123.

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

Gloria Pang SW, Chih Lee HH, Ng Wing Kei C, et al.

Case reports in genetics 2022; (2022()):4153357 doi:10.1155/2022/4153357.

Ophthalmologic school-based screening revealing Kearns-Sayre syndrome: a case report.

Ennejjar A, Moutamani S, Boutaj T, et al.

The Pan African medical journal 2022; (41()):226 doi:10.11604/pamj.2022.41.226.33085.

Use of Next-Generation Sequencing for Identifying Mitochondrial Disorders.

Mahmud S, Biswas S, Afrose S, et al.

Current issues in molecular biology 2022; (44(3)):1127-1148 doi:10.3390/cimb44030074.

Mitochondrial disorders: Understanding mitochondrial DNA point mutations and deletion syndromes.

Heuer B, Seibert DC

Journal of the American Association of Nurse Practitioners 2022; (34(8)):954-956 doi:10.1097/JXX.0000000000000755.

KEARNS-SAYRE SYNDROME MASQUERADING AS MYASTHENIA GRAVIS.

Sokol JT, Hoyek S, Fulton AB, Patel NA

Retinal cases & brief reports 2024; (18(3)):396-399 doi:10.1097/ICB.0000000000001397.

Increased Sphingomyelin and Free Sialic Acid in Cerebrospinal Fluid of Kearns-Sayre Syndrome: New Findings Using Untargeted Metabolomics.

Salvador CL, Oppebøen M, Vassli AØ, et al.

Pediatric neurology 2023; (143()):68-76 doi:10.1016/j.pediatrneurol.2023.02.016.

Kearns-Sayre syndrome: Two case reports and a review for the primary care physician.

Richmond C, Powell L, Brittingham ZD, Mancuso A

Journal of family medicine and primary care 2023; (12(4)):792-795 doi:10.4103/jfmpc.jfmpc_1790_22.

Understanding the impact of pediatric single large-scale mtDNA deletion syndromes on caregivers: Burdens and challenges.

Chappell M, Parikh S, Reynolds E

JIMD reports 2023; (64(5)):375-386 doi:10.1002/jmd2.12385.

Successful cord blood transplantation for del7q myelodysplastic syndrome in Pearson marrow pancreas syndrome.

Belgacem ZH, Dubois SM, Jacoby E, et al.

American journal of hematology 2023; (98(12)):E376-E379 doi:10.1002/ajh.27107.

Propofol and Kearns-Sayre Syndrome: An idiographic approach.

Maddali MM, Munasinghe TD, Al Aamri I, et al.

Sultan Qaboos University medical journal 2023; (23(Spec Iss)):63-67 doi:10.18295/squmj.12.2023.080.

Management of Ptosis in Kearns-Sayre Syndrome: A Case Report and Literature Review.

Moustaine MO, Azemour Z, Mohammed F, et al.

Archives of plastic surgery 2024; (51(2)):182-186 doi:10.1055/a-2207-7587.

Five Questions to Help Prompt End-of-Life Planning in Neuromuscular Disease.

Lipanot BJ, Bosslet G

Seminars in respiratory and critical care medicine 2025; (46(3)):233-239 doi:10.1055/s-0044-1787994.

Demographic characteristics, diagnostic challenges, treatment patterns, and caregiver burden of mitochondrial diseases: a retrospective cross-sectional study.

Zhao X, Yu M, Zhang W, et al.

Orphanet journal of rare diseases 2024; (19(1)):287 doi:10.1186/s13023-024-03289-5.

Analysis of Mutational Burden of Mitochondrial Genome in Cells of Different Human Organs and Tissues.

Sazonova MA, Sinyov VV, Ryzhkova AI, et al.

Current medicinal chemistry 2025; (32(15)):3028-3043 doi:10.2174/0109298673296881240816065357.

Anti-VEGF therapy for proliferative diabetic retinopathy in Kearns-Sayre syndrome.

Leung V, Wong JG, Grigg JR

Documenta ophthalmologica. Advances in ophthalmology 2025; (150(1)):41-46 doi:10.1007/s10633-024-09999-2.

Recognizing the evolution of clinical syndrome spectrum progression in individuals with single large-scale mitochondrial DNA deletion syndromes (SLSMDS).

Ganetzky R, Stanley KD, MacMullen LE, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2025; (27(5)):101386 doi:10.1016/j.gim.2025.101386.

Kearns-Sayre syndrome presenting with progressive external ophthalmoplegia and third-degree atrioventricular block diagnostic challenge in resource-limited settings: a case report.

Azibte GT, Ayalew ZS, Molla BA, et al.

Journal of medical case reports 2025; (19(1)):127 doi:10.1186/s13256-025-05086-5.

Kearns-Sayre syndrome with restricted diffusion in subcortical white matter and extraocular muscle atrophy.

Matsukawa M, Maeda M, Tanaka F, et al.

Radiology case reports 2025; (20(6)):2646-2650 doi:10.1016/j.radcr.2025.02.088.

Polyendocrinopathy and multisystem involvement are common phenotypic features of Kearns-Sayre syndrome.

Finsterer J

European journal of translational myology 2025; (35(2)) doi:10.4081/ejtm.2025.13634.

Kearns-Sayre syndrome presenting with fanconi syndrome: a case report.

Lu Y, Jian S, Qian M, et al.

Translational pediatrics 2025; (14(5)):1059-1064 doi:10.21037/tp-2025-138.

Expanding the Genetic and Phenotypic Spectrum of Kearns-Sayre Syndrome: A Case Report.

Messina C

Cureus 2025; (17(5)):e84293 doi:10.7759/cureus.84293.

Fatal pneumonia in a patient with Kearns-Sayre syndrome case report and literature review.

Zhang J, Song Z, Zhou H, et al.

Frontiers in medicine 2025; (12()):1575384 doi:10.3389/fmed.2025.1575384.

Molecular Aspects of Mitochondrial Dysfunction in Diabetes, Pearson and Kearns-Sayre Syndromes, and Neurodegenerative Disorders.

Shafiee A, Akhlaghi AA, Ellstrom A, et al.

International journal of general medicine 2025; (18()):5355-5366 doi:10.2147/IJGM.S539967.

Detecting mitochondrial electron transport chain enzyme defects in low-heteroplasmy single large-scale mtDNA deletion syndromes (SLSMDSs).

Pan X, Wang Y, Liu N, et al.

Molecular genetics and metabolism 2025; (146(3)):109260 doi:10.1016/j.ymgme.2025.109260.

CRISPR prime editing of mitochondrial heteroplasmy in rare Kearns-Sayre syndrome: ocular and cardiac synergies.

Shahab SH, Habib F

Annals of medicine and surgery (2012) 2026; (88(1)):1019-1020 doi:10.1097/MS9.0000000000004366.

Progressive Conduction Disease in a Mitochondrial Disorder.

Amaro T, Bueno S, Guirão C, et al.

JACC. Case reports 2026; 107749 doi:10.1016/j.jaccas.2026.107749.