Biomaterial Database

[Chronic progressive external ophthalmoplegia (CPEO), Kearns-Sayre syndrome (KSS)]. 2001

H Ishikawa, and I Nishino

Department of Ultrastructural Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry(NCNP).

UI	MeSH Term	Description	Entries
D007625	Kearns-Sayre Syndrome	A mitochondrial disorder featuring the triad of chronic progressive EXTERNAL OPHTHALMOPLEGIA, cardiomyopathy (CARDIOMYOPATHIES) with conduction block (HEART BLOCK), and RETINITIS PIGMENTOSA. Disease onset is in the first or second decade. Elevated CSF protein, sensorineural deafness, seizures, and pyramidal signs may also be present. Ragged-red fibers are found on muscle biopsy. (Adams et al., Principles of Neurology, 6th ed, p984)	Kearns Syndrome,CPEO with Myopathy,CPEO with Ragged Red Fibers,Chronic Progressive External Ophthalmoplegia with Myopathy,Cpeo With Ragged-Red Fibers,Kearn-Sayre Mitochondrial Cytopathy,Kearns Sayre Syndrome,Kearns' Syndrome,Kearns-Sayre Mitochondrial Cytopathy,Kearns-Sayre-Shy-Daroff Syndrome,Oculocraniosomatic Syndrome,Ophthalmoplegia Plus Syndrome,Ophthalmoplegia, Pigmentary Degeneration of Retina, and Cardiomyopathy,Ophthalmoplegia, Progressive External, With Ragged-Red Fibers,Ophthalmoplegia-Plus Syndrome,CPEO with Myopathies,Cytopathies, Kearns-Sayre Mitochondrial,Cytopathy, Kearn-Sayre Mitochondrial,Cytopathy, Kearns-Sayre Mitochondrial,Kearn Sayre Mitochondrial Cytopathy,Kearn Syndrome,Kearns Sayre Mitochondrial Cytopathy,Kearns Sayre Shy Daroff Syndrome,Kearns-Sayre Mitochondrial Cytopathies,Mitochondrial Cytopathies, Kearns-Sayre,Mitochondrial Cytopathy, Kearn-Sayre,Mitochondrial Cytopathy, Kearns-Sayre,Myopathies, CPEO with,Myopathy, CPEO with,Oculocraniosomatic Syndromes,Ophthalmoplegia Plus Syndromes,Ophthalmoplegia-Plus Syndromes,Sayre Syndrome, Kearns,Syndrome, Kearns,Syndrome, Kearns Sayre,Syndrome, Kearns',Syndrome, Kearns-Sayre,Syndrome, Kearns-Sayre-Shy-Daroff,Syndrome, Oculocraniosomatic,Syndrome, Ophthalmoplegia Plus,Syndrome, Ophthalmoplegia-Plus,Syndromes, Ophthalmoplegia-Plus
D009154	Mutation	Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.	Mutations
D011379	Prognosis	A prediction of the probable outcome of a disease based on a individual's condition and the usual course of the disease as seen in similar situations.	Prognostic Factor,Prognostic Factors,Factor, Prognostic,Factors, Prognostic,Prognoses
D003937	Diagnosis, Differential	Determination of which one of two or more diseases or conditions a patient is suffering from by systematically comparing and contrasting results of diagnostic measures.	Diagnoses, Differential,Differential Diagnoses,Differential Diagnosis
D004272	DNA, Mitochondrial	Double-stranded DNA of MITOCHONDRIA. In eukaryotes, the mitochondrial GENOME is circular and codes for ribosomal RNAs, transfer RNAs, and about 10 proteins.	Mitochondrial DNA,mtDNA
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D017246	Ophthalmoplegia, Chronic Progressive External	A mitochondrial myopathy characterized by slowly progressive paralysis of the levator palpebrae, orbicularis oculi, and extraocular muscles. Ragged-red fibers and atrophy are found on muscle biopsy. Familial and sporadic forms may occur. Disease onset is usually in the first or second decade of life, and the illness slowly progresses until usually all ocular motility is lost. (From Adams et al., Principles of Neurology, 6th ed, p1422)	CPEO,Graefe Disease,Mitochondrial Ocular Myopathy,Ocular Muscular Dystrophy,Chronic Progressive External Ophthalmoplegia,Graefe's Disease,Ocular Myopathy of Von Graefe-Fuchs,Ophthalmoplegia, Progressive External,Progressive External Ophthalmoplegia,Disease, Graefe,Dystrophy, Ocular Muscular,External Ophthalmoplegia, Progressive,Muscular Dystrophies, Ocular,Muscular Dystrophy, Ocular,Myopathy, Mitochondrial Ocular,Ocular Muscular Dystrophies,Ocular Myopathy of Von Graefe Fuchs,Ocular Myopathy, Mitochondrial

Related Publications

H Ishikawa, and I Nishino

[Chronic progressive external ophthalmoplegia and Kearns-Sayre syndrome : interdisciplinary diagnosis and therapy].

June 2008, Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft,

H Ishikawa, and I Nishino

Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome.

May 1989, The New England journal of medicine,

H Ishikawa, and I Nishino

[Mitochondrial DNA mutations in patients with chronic progressive external ophthalmoplegia and Kearns-Sayre syndrome].

August 2003, Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics,

H Ishikawa, and I Nishino

Sensorineural hearing loss in patients with chronic progressive external ophthalmoplegia or Kearns-Sayre syndrome.

September 2005, Journal of neurology,

H Ishikawa, and I Nishino

The cardiac involvement in chronic progressive external ophthalmoplegia: consideration on the Kearns-Sayre syndrome.

January 1981, Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie. Albrecht von Graefe's archive for clinical and experimental ophthalmology,

H Ishikawa, and I Nishino

Executive and visuospatial deficits in patients with chronic progressive external ophthalmoplegia and Kearns-Sayre syndrome.

May 2003, Brain : a journal of neurology,

H Ishikawa, and I Nishino

Steroid danger in Kearns-Sayre syndrome (KSS).

August 1988, New Jersey medicine : the journal of the Medical Society of New Jersey,

H Ishikawa, and I Nishino

[Kearns' syndrome and progressive external ophthalmoplegia].

January 1979, Bulletin des societes d'ophtalmologie de France,

H Ishikawa, and I Nishino

Chronic progressive external ophthalmoplegia, pigmentary retinopathy, and heart block (Kearns-Sayre syndrome). Report of a case.

September 1975, Acta ophthalmologica,