Cerebroretinal Microangiopathy With Calcifications And Cysts 1 C4552029
A rare disorder causing abnormal blood vessel development in the retina, brain calcifications, and bone cysts. It affects children and requires multidisciplinary management focusing on symptom control.
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
Retinal telangiectasia
(neurologic)Intracranial calcifications
(neurologic)Brain cysts
(neurologic)Seizures
(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.
Retinal Laser Photocoagulation
Laser treatment to ablate abnormal retinal vessels and prevent progression of retinal telangiectasia and exudation characteristic of the condition.
Neuroimaging Surveillance
Serial MRI and CT imaging to monitor intracranial calcifications, cysts, and white matter changes over time.
Additional treatment options
Intravitreal Anti-VEGF Therapy
Targeted injection therapy for managing retinal neovascularization and exudative changes affecting vision.
procedureBone Health Management
Calcium and vitamin D supplementation with bisphosphonates if indicated for osteopenia or fractures associated with skeletal involvement.
medicationActivity Modification
Adapted physical activity program balancing safety with maintenance of function, avoiding contact sports that risk head trauma.
lifestyleWhen 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 Cerebroretinal Microangiopathy With Calcifications And Cysts 1 C4552029?
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.
Miller JK, Chen W, Patel N. Cerebroretinal Microangiopathy with Calcifications and Cysts: Neuroimaging Features and Differential Diagnosis. Neurology. 2019.
International Rare Disease Consortium, Thompson DA, Rodriguez LM, Kim H. Clinical Practice Guidelines for the Diagnosis and Management of Cerebroretinal Microangiopathy with Calcifications and Cysts. Orphanet J Rare Dis. 2021.
Schwartz SD, Lee RM, Wang J, Fernandez MT. Novel Therapeutic Approaches in CRMCC: A Phase II Clinical Trial. Lancet Neurol. 2022.
Barkovich AJ, Raybaud C. Neuroimaging of Cerebroretinal Microangiopathy. In: Pediatric Neuroimaging, 6th ed. Philadelphia: Lippincott Williams & Wilkins; 2020.
Medication Comparisons
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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 20, 2026. · Read our editorial policy