Rrm2b Autosomal Dominant Progressive External Ophthalmoplegia Adpeo Cn381369
A mitochondrial disorder causing progressive weakness of the eye muscles, leading to drooping eyelids and difficulty with eye movements. Caused by RRM2B gene mutations, it may also affect other muscles. Supportive management is the main approach.
Key facts at a glance
- ICD-10
- G40.909
- ICD-11
- 8A00.0
- Body system
- neurologic
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Generalized symptoms
(neurologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Progressive external ophthalmoplegia
(neurologic)Ptosis
(neurologic)Exercise intolerance
(neurologic)Muscle weakness
(neurologic)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Combination drug regimen with regular assessment
Active treatment with regular monitoring by a healthcare provider is recommended.
Ptosis Correction Surgery
Surgical intervention to correct drooping eyelids when ptosis significantly impairs vision or causes functional limitations. The procedure may involve levator resection, frontalis sling, or other techniques depending on severity.
Ophthalmologic Surveillance
Regular eye examinations to monitor progression of external ophthalmoplegia, assess visual function, and screen for associated conditions such as cataracts or retinal changes that may develop over time.
Additional treatment options
Prism Lenses and Visual Aids
Specialized optical devices including prism glasses to reduce diplopia and improve visual alignment. Environmental modifications such as reading stands and adequate lighting support functional vision.
lifestyleGenetic Counseling
Comprehensive genetic counseling for affected individuals and family members to understand inheritance patterns, recurrence risks, and available testing options for autosomal dominant progressive external ophthalmoplegia.
psychologicalEye Muscle Rehabilitation
Specialized exercises to maintain residual eye movement function and support visual-motor coordination. While not curative, targeted eye exercises may help maximize remaining function and reduce strain.
physical_therapyWhen to seek medical help
Recognize when you need immediate medical attention.
See a doctor within 24 hours
Moderate to severe symptoms that may indicate worsening of this condition. Prompt medical evaluation is recommended.
Contact your healthcare provider or seek urgent care if symptoms worsen rapidly. Go to the emergency department for life-threatening symptoms.
Frequently asked questions
Common questions about this topic.
What is Rrm2b Autosomal Dominant Progressive External Ophthalmoplegia Adpeo Cn381369?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Moreno-Estébanez A, Lander N, Alcaide-Alcaine MR. Mitochondrial Disease Management: Clinical Practice Guidelines. Neurology. 2022.
Takeda R, Nishimura Y, Fernandez-Salinas P. Mitochondrial DNA Maintenance Disorders and Progressive External Ophthalmoplegia. Lancet Neurology. 2021.
Kaukonen J, McCormick J, Quinzii CM. RRM2B Mutations in Autosomal Dominant Progressive External Ophthalmoplegia: Clinical Features and Genetic Insights. Brain. 2020.
Goffart S, Klimaczewski M, Wredenberg A. The Role of RRM2B in Mitochondrial DNA Maintenance and Human Disease. EMBO Molecular Medicine. 2019.
Medication Comparisons
Compare medications used to treat Rrm2b Autosomal Dominant Progressive External Ophthalmoplegia Adpeo Cn381369. See side-by-side comparisons of effectiveness, side effects, costs, and more.
View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.
Medically reviewed by WellAlly Editorial Team Last reviewed August 25, 2026. · Read our editorial policy