Kearns-Sayre syndrome


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Kearns-Sayre syn·drome

(kernz sār), [MIM*530000]
a form of chronic progressive external ophthalmoplegia with associated cardiac conduction defects, short stature, and hearing loss; a sporadically occurring mitochondrial myopathy presenting in childhood.

Kearns-Sayre syndrome

A mitochondrial disease characterized by chronic progressive external ophthalmoplegia–paralysis of ocular muscles and mitochondrial myopathy combined with retinal deterioration, heart disease, hearing loss, DM, renal disease See Mitochondrial disease.

Kearns-Sayre syn·drome

(kĕrnz sār sindrōm)
A form of chronic progressive external ophthalmoplegia with associated cardiac conduction defects, short stature, and hearing loss; a sporadically occurring mitochondrial myopathy presenting in childhood.

Kearns-Sayre syndrome (KSS)

A syndrome caused by major rearrangements of, and often large deletions from, the MITOCHONDRIAL DNA. The condition features paralysis of the eye-moving muscles with double vision; drooping eyelids; degeneration of the retinas; defects in the conducting muscle tissue of the heart; respiratory distress; and in some cases staggering walk, deafness and DIABETES.

Kearns,

Thomas P., U.S. ophthalmologist, 1922–.
Kearns-Sayre syndrome - chronic progressive external ophthalmoplegia with associated cardiac conduction defects, short stature, and hearing loss.

Sayre,

George P., U.S. ophthalmologist, 1911–.
Kearns-Sayre syndrome - see under Kearns

Kearns-Sayre syn·drome

(kĕrnz sār sindrōm) [MIM*530000]
Chronic progressive external ophthalmoplegia with associated cardiac conduction defects, short stature, and hearing loss.
References in periodicals archive ?
Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome. N Engl J Med 1989;320:1293-9.
A novel mitochondrial DNA deletion in a Chinese girl with Kearns-Sayre syndrome. Hong Kong Med J 2009;15:374-7.
Kearns-Sayre syndrome – 3 case reports and review of clinical feature.
Patient with Kearns-Sayre syndrome exhibiting abnormal magnetic resonance image of the brain.
Evidence for cardioembolic stroke in a case of Kearns-Sayre syndrome. Stroke 1995;26:1950-2.
Histological, enzymatic and mitochondrial DNA studies in patients with Kearns-Sayre syndrome and chronic progressive external ophthalmoplegia.
Kearns-Sayre syndrome associated with mitochondrial DNA deletion or duplication: A molecular genetic and pathological study.