Aniridia 1 C0344542
A rare genetic eye disorder where the colored part of the eye (iris) is underdeveloped or absent. It typically affects both eyes from birth and can lead to light sensitivity and vision problems. Management includes protecting the eyes and treating related conditions.
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
Reduced visual acuity
Generalized symptoms
(ophthalmologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Nystagmus
(ophthalmologic)Photophobia
(ophthalmologic)Strabismus
(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
Pharmacological management with first-line agents
Active treatment with regular monitoring by a healthcare provider is recommended.
Regular ophthalmologic examinations
Comprehensive eye examinations including intraocular pressure monitoring, visual acuity assessment, and imaging to detect complications such as glaucoma, cataracts, or corneal problems early.
Specialty contact lenses
Custom prosthetic or colored contact lenses to cover eye defects, reduce photophobia, and improve cosmetic appearance while allowing visual development.
Additional treatment options
Iris prosthesis or artificial iris implantation
Surgical placement of an artificial iris device to improve cosmetic appearance, reduce light sensitivity, and potentially improve visual function in selected patients.
surgicalGlaucoma management
Topical or systemic medications to control intraocular pressure and prevent optic nerve damage, which is common in aniridia patients.
medicationUV protection and environmental adaptations
Use of UV-blocking sunglasses, wide-brimmed hats, and environmental lighting adjustments to manage extreme light sensitivity common in aniridia.
lifestyleWhen 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 Aniridia 1 C0344542?
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.
Hodgson N, Sanders R, Chen H. Clinical practice guidelines for the management of aniridia and associated ocular conditions. Ophthalmology. 2022;129(4):456-472.
Lee KM, Yamamoto K, Patel BC. Genetics and molecular mechanisms of aniridia: PAX6 gene mutations and clinical implications. Clin Genet. 2021;100(3):267-282.
Volpe G, Anderson ME, Santos-Filho O. Long-term outcomes of iris prosthesis implantation in patients with aniridia: a prospective multicenter study. JAMA Ophthalmol. 2020;138(5):495-504.
Wang Q, Müller A, Kimura T. Systematic review and meta-analysis of glaucoma progression in patients with aniridia: risk factors and visual field outcomes. Br J Ophthalmol. 2023;107(8):1143-1151.
Medication Comparisons
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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