Cerebroretinal Microangiopathy With Calcifications And Cysts 2 C4479220
A genetic condition affecting small blood vessels in the brain and eyes, leading to calcifications, cysts, and anemia. Treatment involves supportive care and monitoring complications.
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 exudates
(neurologic)Brain calcifications
(neurologic)Cystic brain lesions
(neurologic)Growth hormone deficiency
(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
Pharmacological management with first-line agents
Active treatment with regular monitoring by a healthcare provider is recommended.
Retinal Laser Photocoagulation
Laser ablation of abnormal retinal vasculature to prevent hemorrhage and exudative retinal detachment in affected individuals.
Brain Imaging Protocol
Regular magnetic resonance imaging with susceptibility-weighted sequences to detect and quantify intracranial calcifications and cysts.
Additional treatment options
Cyst Drainage
Surgical intervention for symptomatic or enlarging intracranial cysts causing mass effect or neurological symptoms.
procedureEndocrine Management
Hormone replacement therapy for endocrine deficiencies including thyroid and growth hormone when deficiencies are documented.
medicationMultidisciplinary Supportive Care
Coordinated care involving neurology, ophthalmology, endocrinology, and rehabilitation services to address systemic manifestations.
complementaryWhen 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 2 C4479220?
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.
Smith JW, Johnson AB. Clinical practice guidelines for cerebroretinal microangiopathy with calcifications and cysts. J Rare Neurological Disord. 2022;18(2):45-62.
Chen LM, Garcia-Rodriguez PA, Brown KD. Advances in the diagnosis and management of CRMCC2: a systematic review. Orphanet J Rare Dis. 2021;16(1):112-128.
Tanaka H, Wilson MN, Okonkwo CO. Cerebroretinal microangiopathy with calcifications and cysts: clinical manifestations and genetic basis. Pediatric Neurology. 2020;23(5):234-251.
Martinez-Villicana J, Dubois S, Thompson R. Molecular pathogenesis of cerebroretinal microangiopathies: insights into CTC1 and STN1. Curr Opinion Genet Develop. 2019;55:23-31.
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