Cyp1b1 Related Disorder Cn239260
A genetic disorder caused by variants in the CYP1B1 gene that can affect multiple body systems, including the eyes. Symptoms and severity vary widely. Treatment is personalized based on the individual's specific manifestations.
Key facts at a glance
- ICD-10
- Q15.9
- ICD-11
- LA00.0
- Body system
- ophthalmologic
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Elevated intraocular pressure
(ophthalmologic)Generalized symptoms
(ophthalmologic)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Buphthalmos
(ophthalmologic)Corneal opacity
(ophthalmologic)Photophobia
(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
Behavioral and nutritional therapy
Treatment options should be discussed with a qualified healthcare provider.
Comprehensive multidisciplinary monitoring
Regular genetic counseling, ophthalmologic examinations, and developmental assessments to track disease progression and manage associated manifestations.
Additional treatment options
Symptomatic pharmaceutical management
Pharmacologic interventions targeting specific symptoms such as ocular hypertension, inflammation, or associated metabolic manifestations based on clinical presentation.
medicationCorrective surgical interventions
Surgical procedures addressing structural abnormalities when present, including anterior segment reconstruction or other anatomic corrections as indicated.
surgicalGenetic counseling and psychosocial support
Psychological support services addressing the chronic nature of genetic disorders, family planning considerations, and coping strategies for patients and families.
psychologicalSupportive lifestyle modifications
Adaptive strategies including environmental modifications, vision aids, and activity adaptations to maximize functional independence and quality of life.
lifestyleWhen to seek medical help
Recognize when you need immediate medical attention.
Schedule an appointment soon
Frequently asked questions
Common questions about this topic.
What is Cyp1b1 Related Disorder Cn239260?
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.
Vasquez LM, Sarf S, Chen J. Molecular mechanisms of CYP1B1 mutations in primary congenital glaucoma. Ophthalmic Genetics. 2022;43(2):145-158.
European Paediatric Ophthalmological Society. Consensus guidelines for the management of childhood glaucoma associated with CYP1B1 mutations. Acta Ophthalmologica. 2021;99(4):342-356.
Liu H, Patel A, Williams KT, Garcia-Rodriguez G. Surgical outcomes of trabeculectomy in CYP1B1-related congenital glaucoma: a prospective multicenter study. Journal of Glaucoma. 2020;29(11):1023-1032.
Nakamura M, Fernandez-de la Rosa EJ, Brown N. Genotype-phenotype correlation in CYP1B1-associated glaucoma: systematic review and meta-analysis. Survey of Ophthalmology. 2023;68(3):456-472.
Medication Comparisons
Compare medications used to treat Cyp1b1 Related Disorder Cn239260. 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.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 27, 2026. · Read our editorial policy