Knobloch Syndrome 1 C4551775
A rare genetic disorder causing severe nearsightedness, retinal detachment, and skull defects. Present from birth, it follows autosomal recessive inheritance. Management involves regular eye monitoring and surgical repair of retinal issues.
Key facts at a glance
- ICD-10
- Q15.9
- ICD-11
- LA00.0
- Body system
- ophthalmologic
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Retinal detachment
Generalized symptoms
(ophthalmologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
High myopia
(ophthalmologic)Vitreoretinal degeneration
(ophthalmologic)Occipital encephalocele
(ophthalmologic)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 detachment repair
Surgical intervention is typically required for retinal detachment associated with Knobloch syndrome. Procedures may include vitrectomy, scleral buckle, or laser photocoagulation depending on detachment characteristics.
Occipital encephalocele repair
If present, the encephalocele requires neurosurgical repair to protect neural tissue and reduce infection risk. Timing depends on size and associated complications.
Additional treatment options
Regular ophthalmologic surveillance
Comprehensive eye examinations including retinal imaging at regular intervals help detect early changes and plan interventions before significant vision loss occurs. OCT imaging tracks vitreoretinal changes.
monitoringLow-vision rehabilitation services
When vision impairment occurs, low-vision specialists provide training with magnification devices, adaptive technologies, and strategies to maximize functional vision for daily activities.
complementaryGenetic counseling and family screening
Genetic counseling clarifies the autosomal recessive inheritance and helps families understand recurrence risks. At-risk siblings should undergo ophthalmologic evaluation for early detection.
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 Knobloch Syndrome 1 C4551775?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalMedication Comparisons
Compare medications used to treat Knobloch Syndrome 1 C4551775. 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 20, 2026. · Read our editorial policy