Kearns-Sayre SyndromeSymptoms, Doctors, Treatments, Advances & More
Learn About Kearns-Sayre Syndrome
Kearns-Sayre syndrome is a condition that affects many parts of the body, especially the eyes. The features of Kearns-Sayre syndrome usually appear before age 20, and the condition is diagnosed by a few characteristic signs and symptoms. People with Kearns-Sayre syndrome have progressive external ophthalmoplegia, which is weakness or paralysis of the eye muscles that impairs eye movement and causes drooping eyelids (ptosis). Affected individuals also have an eye condition called pigmentary retinopathy, which results from breakdown (degeneration) of the light-sensing tissue at the back of the eye (the retina) that gives it a speckled and streaked appearance. The retinopathy may cause loss of vision. In addition, people with Kearns-Sayre syndrome have at least one of the following signs or symptoms: abnormalities of the electrical signals that control the heartbeat (cardiac conduction defects), problems with coordination and balance that cause unsteadiness while walking (ataxia), or abnormally high levels of protein in the fluid that surrounds and protects the brain and spinal cord (the cerebrospinal fluid or CSF).
Kearns-Sayre syndrome is a condition caused by defects in mitochondria, which are structures within cells that use oxygen to convert the energy from food into a form cells can use. This process is called oxidative phosphorylation. Although most DNA is packaged in chromosomes within the nucleus (nuclear DNA), mitochondria also have a small amount of their own DNA, called mitochondrial DNA (mtDNA). This type of DNA contains many genes essential for normal mitochondrial function. People with Kearns-Sayre syndrome have a single, large deletion of mtDNA, ranging from 1,000 to 10,000 DNA building blocks (nucleotides). The cause of the deletion in affected individuals is unknown.
The prevalence of Kearns-Sayre syndrome is approximately 1 to 3 per 100,000 individuals.
This condition is generally not inherited but arises from mutations in the body's cells that occur after conception. This alteration is called a somatic mutation and is present only in certain cells.
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Amy Goldstein is a Pediatric Neurologist practicing medicine in Philadelphia, Pennsylvania. Dr. Goldstein is rated as an Elite provider by MediFind in the treatment of Kearns-Sayre Syndrome. She is also highly rated in 3 other conditions, according to our data. Her clinical expertise encompasses Kearns-Sayre Syndrome, Very Long-Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency, Mitochondrial Trifunctional Protein Deficiency, Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency, and Gastrostomy. Dr. Goldstein is board certified in American Board Of Psychiatry And Neurology - Psychiatry.
Marek Niedziela practices practicing medicine in Poznan, Poland. Mr. Niedziela is rated as an Elite expert by MediFind in the treatment of Kearns-Sayre Syndrome. He is also highly rated in 33 other conditions, according to our data. His clinical expertise encompasses Kearns-Sayre Syndrome, Intersex, Progressive External Ophthalmoplegia, Hormone Replacement Therapy (HRT), and Thyroidectomy.
Advocate Medical Group Primary Care
Cherie Hawkins is a primary care provider, practicing in Family Medicine in Chicago, Illinois. Dr. Hawkins is rated as an Experienced provider by MediFind in the treatment of Kearns-Sayre Syndrome. Her clinical expertise encompasses Diabetic Hyperglycemic Hyperosmolar Syndrome, Kearns-Sayre Syndrome, Hypertension, and Familial Hypertension. Dr. Hawkins is board certified in American Osteopathic Board Of Family Physicians, Family Practice.
Summary: The My Retina Tracker® Registry is sponsored by the Foundation Fighting Blindness and is for people affected by one of the rare inherited retinal degenerative diseases studied by the Foundation. It is a patient-initiated registry accessible via a secure on-line portal at www.MyRetinaTracker.org. Affected individuals who register are guided to create a profile that captures their perspective on the...
Summary: The North American Mitochondrial Disease Consortium (NAMDC) maintains a patient contact registry and tissue biorepository for patients with mitochondrial disorders.
Published Date: December 01, 2011
Published By: National Institutes of Health