Joubert Syndrome With Ocular Defect C4274118
A genetic disorder affecting brain development along with eye abnormalities that may include retinal or corneal issues. Care involves neurological support and ophthalmologic monitoring.
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.
Warning signs - seek immediate care
Vision loss
Generalized symptoms
(neurologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Hypotonia
(neurologic)Developmental delay
(neurologic)Retinal dystrophy
(ophthalmic)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.
Comprehensive Ophthalmologic Evaluation
Regular eye examinations including visual acuity testing, fundoscopy, and imaging to monitor for progression of retinal dystrophy or coloboma-related complications.
Ocular Surgical Intervention
Surgical repair of structural eye defects such as coloboma or treatment of complications like retinal detachment when medically indicated.
Additional treatment options
Low Vision Rehabilitation Services
Specialized training in visual efficiency, use of magnification devices, and adaptive technologies to maximize functional vision.
lifestyleVisual Impairment Support Services
Psychological support and counseling to address challenges associated with vision loss, including coping strategies and family support.
psychologicalOccupational Therapy for Visual Needs
Adaptive occupational therapy focusing on daily living skills, mobility training, and environmental modifications to support independence.
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 Joubert Syndrome With Ocular Defect C4274118?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
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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