Cardiac conduction in the kearns-sayre syndrome (a neuromuscular disorder associated with progressive external ophthalmoplegia and pigmentary retinopathy)

1979 ◽  
Vol 44 (7) ◽  
pp. 1396-1400 ◽  
Author(s):  
Nigel K. Roberts ◽  
Joseph K. Perloff ◽  
R.A.Pieter Kark
Keyword(s):  
Neuromuscular Disorder ◽  
Cardiac Conduction ◽  
Progressive External Ophthalmoplegia ◽  
Pigmentary Retinopathy ◽  
Kearns Sayre Syndrome

scholarly journals Kearns Sayer Syndrome- A Case Report

2020 ◽  
Vol 6 (6) ◽  
pp. 271-272
Author(s):  
Reshmi Mishra ◽  
Keyword(s):  
Case Report ◽  
Mitochondrial Disease ◽  
Prevalence Rate ◽  
Rare Case ◽  
Age Of Onset ◽  
Progressive External Ophthalmoplegia ◽  
Pigmentary Retinopathy ◽  
Kearns Sayre Syndrome

Kearns–Sayre syndrome (KSS) is a rare mitochondrial disease was first described in 1958. The characteristic triad is age of onset less than 20 years, progressive external ophthalmoplegia, pigmentary retinopathy, The prevalence rate of KSS is nearly 1–3 per 100 000 individuals. Here, we report a rare case of a 11-year-old male with KSS.

scholarly journals Multisystem Disorder in Late-Onset Chronic Progressive External Ophthalmoplegia

2011 ◽  
Vol 38 (1) ◽  
pp. 119-123 ◽  
Author(s):  
Gerald Pfeffer ◽  
Sandra Sirrs ◽  
N. Kevin Wade ◽  
Michelle M. Mezei
Keyword(s):  
Late Onset ◽  
Retrospective Chart Review ◽  
Cardiac Conduction ◽  
Progressive External Ophthalmoplegia ◽  
Chronic Progressive External Ophthalmoplegia ◽  
Mitochondrial Toxicity ◽  
Hepatitis C Infection ◽  
Multisystem Disorder ◽  
Pigmentary Retinopathy ◽  
Disease Spectrum

Abstract:Introduction:Chronic progressive external ophthalmoplegia (CPEO) is a mitochondrial syndrome on a disease spectrum with Kearns-Sayre syndrome (KSS). Clinical presentation is variable and our experience suggested that phenotypic differences exist in CPEO with onset after age 20.Methods:This descriptive study is a retrospective chart review of 40 patients with late-onset CPEO. Clinical features, laboratory and neurophysiology results were reviewed.Results:Multisystem dysfunction was very common in this series. Gastrointestinal dysfunction was more common than expected (60%) as was migraine headache (40%). Clinical characteristics on the KSS disease spectrum were uncommon in this series with only 2.5% having pigmentary retinopathy, 5% with cardiac conduction abnormality, and 22.5% having endocrinopathy (most often thyroid dysfunction rather than diabetes). Neurophysiology abnormalities included length-dependent axonal polyneuropathy in 44% (sometimes subclinical) and myopathic EMG changes in 26%. Exposure to sources of acquired mitochondrial toxicity including cigarette use and hepatitis C infection were more common than expected in this series.Discussion:Phenotype was different in this late-onset series compared with previous reports in CPEO patients. In this series of late-onset patients, multi-organ dysfunction was more common than previously reported in CPEO, and some classical mitochondrial manifestations, such as pigmentary retinopathy were rare. We suggest that acquired mitochondrial toxicity may have a role in the pathogenesis of adult-onset CPEO.

Ptosis and Neuromuscular Syndromes

2014 ◽  
pp. 83-119
Author(s):  
Shirley H. Wray
Keyword(s):  
Myasthenia Gravis ◽  
Neuromuscular Transmission ◽  
Clinical Importance ◽  
Progressive External Ophthalmoplegia ◽  
Oculopharyngeal Muscular Dystrophy ◽  
Fisher Syndrome ◽  
Ocular Myasthenia ◽  
Kearns Sayre Syndrome ◽  
Ocular Myasthenia Gravis

emphasizes the clinical importance of a careful patient history detailing the onset of ptosis, its variability, and its progression. A pattern of ocular and generalized muscle weakness is a central diagnostic attribute of impaired nerve conduction due to disease of the neuromuscular junction. Generalized myasthenia gravis, ocular myasthenia gravis, MuSK-myasthenia gravis, and a case of the Lambert-Eaton syndrome illustrate the spectrum of disorders of neuromuscular transmission. The syndrome known as chronic progressive external ophthalmoplegia is by far the most common of the mitochondrial myopathies progressing to the multisystem failure that is characteristic of the Kearns-Sayre syndrome. A case of Kearns-Sayre syndrome followed for 34 years is a unique case study. Two inherited forms of myopathy, oculopharyngeal muscular dystrophy and myotonic dystrophy, are included, together with a patient with the Guillain-Barré syndrome variant, Fisher syndrome. These disorders should always be considered in the differential diagnosis of bilateral progressive ptosis.

The Atypical Pigmentary Retinopathy of Kearns-Sayre Syndrome

Ophthalmology ◽  
1982 ◽  
Vol 89 (12) ◽  
pp. 1433-1440 ◽  
Author(s):  
Ralph C. Eagle ◽  
Thomas R. Hedges ◽  
Myron Yanoff
Keyword(s):  
Pigmentary Retinopathy ◽  
Kearns Sayre Syndrome

A PCR test for progressive external ophthalmoplegia and Kearns-Sayre syndrome on DNA from blood samples

1997 ◽  
Vol 149 (1) ◽  
pp. 37-40 ◽  
Author(s):  
I.F.M De Coo ◽  
T Gussinklo ◽  
P.J.W Arts ◽  
B.A Van Oost ◽  
H.J.M Smeets
Keyword(s):  
Progressive External Ophthalmoplegia ◽  
Blood Samples ◽  
Kearns Sayre Syndrome ◽  
Pcr Test

scholarly journals Kearns-Sayre Syndrome: A Rare Mitochondrial Disorder

2017 ◽  
Vol 19 (1) ◽  
pp. 66-69
Author(s):  
Quazi Tarikul Islam ◽  
Homayra Tahseen Hossain ◽  
Md Abul Kashem Khandaker ◽  
HAM Nazmul Ahasan ◽  
Maksudul Majumder ◽  
...  
Keyword(s):  
Mitochondrial Disease ◽  
Mitochondrial Disorder ◽  
Progressive External Ophthalmoplegia ◽  
Endocrine Disorders ◽  
Chronic Progressive External Ophthalmoplegia ◽  
Diagnostic Investigation ◽  
Kearns Sayre Syndrome ◽  
First Case ◽  
Wide Range ◽  
Clinical Background

Mitochondrial disease, once thought to be a rare clinical entity, is now recognized as an important cause of a wide range of neurologic, muscle, cardiac and endocrine disorders. Kearns Sayre syndrome is a rare mitochondrial disease, involving deletion of mitochondrial DNA. This syndrome ischaracterized by progressive external ophthalmoplegia (PEO), retinitis pigmentosa and an onset before the age of 20 years. First case was reported in 1958. We are reporting a case with chronic progressive external ophthalmoplegia, bilateral partial ptosis with onset at 10 years of age. He also had features of myopathy and neuropathy without any fatigable weakness. Our diagnosis is mostly based on clinical background and by exclusion of other common disorders, as definitive diagnostic investigation genetic testing due to unavailability so was not done.J MEDICINE Jan 2018; 19 (1) : 66-69

scholarly journals Kearns Sayre Syndrome: A Mitochondrial Disorder

2021 ◽  
Vol 10 (1) ◽  
Author(s):  
Anali Cisneros ◽  
Jeffrey O. Henderson
Keyword(s):  
Nuclear Dna ◽  
Single Gene ◽  
Mitochondrial Disorder ◽  
Genetic Material ◽  
Cardiac Conduction ◽  
Cardiac Complications ◽  
Biochemical Pathway ◽  
Kearns Sayre Syndrome ◽  
Disease Modifying Therapies

Kearns–Sayre syndrome (KSS) is a pleiotropic disorder caused by non-specific spontaneous deletion of a large amount of genetic material from mitochondrial DNA (mtDNA). Aside from patients having mtDNA defects there are also autosomal mutations in nuclear DNA, indicating KSS is not caused by a single gene mutation, but is most likely the result of mutations in genes forming a common biochemical pathway. KSS is characterized by a wide array of symptoms including: ophthalmoplegia, pigmentary retinopathy, ataxia, cardiac conduction defects that later develop into cardiac complications, and brain abnormalities. This review considers the association of deletions in mtDNA with a decrease in mitochondrial function and the pathogenetic role of the dysfunctional mitochondria by analyzing different variants of the mitochondrial genome. Despite there being no curative treatment for these patients, some possible disease modifying therapies have been proposed such as folinic acid supplementation and intravenous arginine therapy.

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

Genes ◽  
2021 ◽  
Vol 12 (12) ◽  
pp. 1918
Author(s):  
Lubica Dudakova ◽  
Pavlina Skalicka ◽  
Alice E. Davidson ◽  
Amanda N. Sadan ◽  
Monika Chylova ◽  
...  
Keyword(s):  
Trinucleotide Repeat ◽  
Corneal Thickness ◽  
Corneal Dystrophy ◽  
Progressive External Ophthalmoplegia ◽  
Critical Threshold ◽  
Pathogenic Variants ◽  
Kearns Sayre Syndrome ◽  
Mtdna Deletion ◽  
The Right ◽  
Toxic Rna

The aim of this study was to describe the ocular phenotype in a case with Kearns-Sayre syndrome (KSS) spectrum and to determine if corneal endothelial cell dysfunction could be attributed to other known distinct genetic causes. Herein, genomic DNA was extracted from blood and exome sequencing was performed. Non-coding gene regions implicated in corneal endothelial dystrophies were screened by Sanger sequencing. In addition, a repeat expansion situated within an intron of TCF4 (termed CTG18.1) was genotyped using the short tandem repeat assay. The diagnosis of KSS spectrum was based on the presence of ptosis, chronic progressive external ophthalmoplegia, pigmentary retinopathy, hearing loss, and muscle weakness, which were further supported by the detection of ~6.5 kb mtDNA deletion. At the age of 33 years, the proband’s best corrected visual acuity was reduced to 0.04 in the right eye and 0.2 in the left eye. Rare ocular findings included marked corneal oedema with central corneal thickness of 824 and 844 µm in the right and left eye, respectively. No pathogenic variants in the genes, which are associated with corneal endothelial dystrophies, were identified. Furthermore, the CTG18.1 genotype was 12/33, which exceeds a previously determined critical threshold for toxic RNA foci appearance in corneal endothelial cells.

Sign in / Sign up

Export Citation Format

Share Document