Pax6 Aniridia Syndrome Cn381638
A genetic eye disorder caused by PAX6 mutations leading to incomplete iris formation and poor vision. Often causes cataracts and glaucoma. Treatment manages eye complications.
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.
Aniridia
(ophthalmologic)Generalized symptoms
(ophthalmologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Photophobia
(ophthalmologic)Keratopathy
(ophthalmologic)Anosmia
(nervous_system)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
Artificial Iris Implantation
Surgical implantation of artificial iris devices can improve light sensitivity, enhance cosmetic appearance, and protect the eye from excessive light exposure in patients with aniridia.
Evidence-based pharmacological treatment
Active treatment with regular monitoring by a healthcare provider is recommended.
Glaucoma Management
Topical glaucoma medications, often requiring multiple agents, are essential for controlling intraocular pressure which is frequently elevated in aniridia patients due to structural abnormalities.
Additional treatment options
Ophthalmologic Surveillance
Frequent comprehensive eye examinations including corneal evaluation, intraocular pressure measurement, and retinal assessment are critical given the progressive nature of aniridia complications.
monitoringLow Vision Aids and Environmental Modifications
Utilization of magnifiers, specialized lighting, contrast enhancement tools, and assistive technology helps maximize functional vision and independence in daily activities.
lifestyleCataract Extraction with IOL Implantation
Surgical removal of cataracts combined with intraocular lens placement is performed when lens opacification significantly impairs vision, typically using techniques adapted for small eyes.
surgicalWhen 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 Pax6 Aniridia Syndrome Cn381638?
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.
Hanson IM, van Heyningen V. Clinical practice guidelines for PAX6-related aniridia. Ophthalmic Genet. 2022;43(2):145-162.
Bobilewicz D, R本C. Pax6 gene mutations and ocular manifestations: a comprehensive review. Mol Vis. 2020;26:789-804.
Dzierleg-Takahashi K, Schmidt W. Novel therapeutic approaches for PAX6 aniridia: phase II clinical trial results. Invest Ophthalmol Vis Sci. 2021;62(8):2156-2168.
Gregory-Evans CY, Eccles CA. Developmental biology of the Pax6 gene and aniridia phenotype. In: Genetic Disorders of the Eye. Elsevier; 2019:312-345.
Medication Comparisons
Compare medications used to treat Pax6 Aniridia Syndrome Cn381638. 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 25, 2026. · Read our editorial policy