Living with Kearns-Sayre syndrome
A condition affecting many body parts, especially the eyes, with weak eye muscles, drooping eyelids, and retinal changes starting before age 20.
Understanding Kearns-Sayre syndrome
Features usually appear before age 20. People have weakness of the eye muscles that limits eye movement and causes drooping eyelids, plus a retina disease (pigmentary retinopathy) that can cause vision loss. They also have at least one of these: heart rhythm (conduction) problems, balance trouble (ataxia), or high protein in the spinal fluid. Others may have muscle weakness, deafness, kidney problems, or short stature. It is a mitochondrial condition.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Weak eye muscles (progressive external ophthalmoplegia)
- Drooping upper eyelids
- Retina disease (pigmentary retinopathy)
- Heart rhythm problems (heart block)
- Balance and coordination problems (ataxia)
- Hearing loss
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, ear, nose, and throat specialists, eye disease specialists and genetic specialists.
- 3Consider genetic testing
Changes in RRM2B are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Muscular Dystrophy Association, Children's Cardiomyopathy Foundation and Epilepsy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Ear, nose, and throat specialists (otolaryngologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Muscular Dystrophy Association, Children's Cardiomyopathy Foundation, Epilepsy Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Muscular Dystrophy Association and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the RRM2B gene are listed. GARD lists mitochondrial inheritance, meaning the changes affect mitochondria, the energy parts of cells.
Also known as: chronic progressive external ophthalmoplegia with myopathy; chronic progressive external ophthalmoplegia with myopathy, somatic; cpeo with myopathy; cpeo with ragged red fibers; kearns sayre syndrome; kearns-sayre mitochondrial cytopathy
Patient organizations
- Muscular Dystrophy AssociationKearns-Sayre syndrome · United States
- The Champ FoundationKearns-Sayre syndrome · United States
- Children's Cardiomyopathy FoundationCardiomyopathy · United States
- Epilepsy FoundationEpilepsy · United States
- United Mitochondrial Disease FoundationMitochondrial diseases · United States
- MitoActionMitochondrial diseases · United States
- The Foundation for Peripheral NeuropathyPeripheral neuropathy · United States
- Neuropathy Action FoundationPeripheral neuropathy · United States
You are more than your diagnosis
Perspectives from people navigating life with Kearns-Sayre syndrome.
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