Kearns-Sayre syndrome, first described by Kearns and Sayre in 1958, is a rare disorder consisting of ptosis, limited movement of both eyes and atypical retinal pigmentary change (salt-pepper like appearance). Most cases have shown an increase in the concentration of mitochondria and ragged-red fiber under Gomori-trichrome staining on muscle biopsy. Occasionally, it is combined with other neurologic and endocrinologic symptoms such as ataxia, dementia, diabetes, and hyperaldosteronism. We recently experienced three cases of male teenaged patients who expressed the clinical features of Kearns-Sayre syndrome.
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[Kearns-Sayre Syndrome: A case report in Rabat University Hospital Center and literature review].
J Fr Ophtalmol
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Service d'ophtalmologie A, hôpital des spécialités, CHU Ibn Sina, avenue Abderrahim-Bouabid, 10100 Rabat, Maroc.
Syndromic Retinitis Pigmentosa.
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Department of Ophthalmology, Leiden University Medical Center, Leiden, the Netherlands; Department of Ophthalmology, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, the Netherlands.
Retinitis pigmentosa (RP) is a progressive inherited retinal dystrophy, characterized by the degeneration of photoreceptors, presenting as a rod-cone dystrophy. Approximately 20-30% of patients with RP also exhibit extra-ocular manifestations in the context of a syndrome. This manuscript discusses the broad spectrum of syndromes associated with RP, pathogenic mechanisms, clinical manifestations, differential diagnoses, clinical management approaches, and future perspectives.
View Article and Find Full Text PDFAnti-VEGF therapy for proliferative diabetic retinopathy in Kearns-Sayre syndrome.
Doc Ophthalmol
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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.
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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.
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INMG-PGNM, UMR CNRS 5261 - INSERM U1315, Université Lyon 1, Lyon, France; Centre de Biotechnologie Cellulaire, Hospices Civils De Lyon, Lyon, France.
Article Synopsis
- The study assessed the link between inherited mitochondrial dysfunction and neuromuscular junction (NMJ) remodeling in patients with mitochondrial disorders, analyzing muscle biopsies from 15 patients and 10 controls.
- Results showed that patients with mitochondrial disorders had significantly more remodeled and neoformed NMJ endplates, with a trend towards increased Schwann cell extensions, indicating NMJ alterations even without muscle weakness.
- The findings suggest that mitochondrial disorders may lead to NMJ remodeling as a primary issue, separate from structural muscle damage, though the exact mechanisms and clinical indicators warrant further investigation.
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