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)

Also Known As:

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; Kearns Syndrome

Musculoskeletal Diseases: 751
- Muscular Diseases: 10368
  - Mitochondrial Myopathies: 879
    - Chronic Progressive External Ophthalmoplegia: 583
      - Kearns-Sayre Syndrome: 342
Nervous System Diseases: 14737
- Neurologic Manifestations: 7223
  - Paralysis: 14443
    - Ophthalmoplegia: 893
      - Chronic Progressive External Ophthalmoplegia: 583
        Kearns-Sayre Syndrome: 342
- Neuromuscular Diseases: 2048
  - Muscular Diseases: 10368
    - Mitochondrial Myopathies: 879
      - Chronic Progressive External Ophthalmoplegia: 583
        Kearns-Sayre Syndrome: 342
- Cranial Nerve Diseases: 564
  - Ocular Motility Disorders: 523
    - Ophthalmoplegia: 893
      - Chronic Progressive External Ophthalmoplegia: 583
        Kearns-Sayre Syndrome: 342
Eye Diseases: 3620
- Retinal Diseases: 3134
  - Retinal Degeneration: 4173
    - Retinal Dystrophies: 764
      - Retinitis Pigmentosa: 4076
        Kearns-Sayre Syndrome: 342
- Ocular Motility Disorders: 523
  - Ophthalmoplegia: 893
    - Chronic Progressive External Ophthalmoplegia: 583
      - Kearns-Sayre Syndrome: 342
Cardiovascular Diseases: 94258
- Heart Diseases: 26486
  - Cardiomyopathies: 19680
    - Kearns-Sayre Syndrome: 342
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10634
  - Mitochondrial Diseases: 22985
    - Mitochondrial Myopathies: 879
      - Chronic Progressive External Ophthalmoplegia: 583
        Kearns-Sayre Syndrome: 342
Signs and Symptoms Pathological Conditions
- Pathologic Processes: 10385
  - Disease Attributes: 18
    - Chronic Disease: 26704
      - Chronic Progressive External Ophthalmoplegia: 583
        Kearns-Sayre Syndrome: 342
- Signs and Symptoms
  - Neurologic Manifestations: 7223
    - Paralysis: 14443
      - Ophthalmoplegia: 893
        Chronic Progressive External Ophthalmoplegia: 583
        Kearns-Sayre Syndrome: 342

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Drug/Important Bio-Agent (IBA)