Overview: Aniridia is a congenital, panocular disorder characterized by the complete or partial absence of the iris. It is associated with various ocular complications such as keratopathy, glaucoma, cataracts, and foveal hypoplasia, often leading to reduced visual acuity and other vision-related issues. The management of aniridia requires a comprehensive and lifelong approach to monitor and treat these complications effectively.
From Birth to Infancy (0-1 year):
- Initial Diagnosis:
- Conduct a thorough ocular examination at birth or at the time of diagnosis to assess the degree of iris hypoplasia and associated ocular anomalies.
- Perform genetic testing to confirm the diagnosis and evaluate for PAX6 mutations and other associated genetic abnormalities, including the potential for WAGR syndrome (Wilms tumor, Aniridia, Genitourinary abnormalities, and mental Retardation) (American Academy of Ophthalmology) (WebEye).
- Monitoring and Management:
- Schedule an eye exam every 3 months during the first year of life.
- Monitor for the development of cataracts, glaucoma, and aniridia-associated keratopathy (AAK) (American Academy of Ophthalmology) (WebEye).
- Conduct regular renal ultrasounds in cases with WAGR syndrome to screen for Wilms tumor (WebEye).
Early Childhood (1-5 years):
- Regular Eye Exams:
- Conduct comprehensive eye exams every 6 months.
- Assess for visual acuity, nystagmus, and strabismus. Provide corrective lenses as necessary (Cedars-Sinai).
- Treatment of Complications:
- Begin treatment for any developing ocular surface diseases with preservative-free artificial tears and lubricating ointments.
- Evaluate the need for surgical interventions, such as cataract surgery or glaucoma treatment, based on the progression of the disease (American Academy of Ophthalmology) (Cedars-Sinai).
- Genetic Counseling:
- Provide genetic counseling to families to discuss inheritance patterns and the risks of transmission to future offspring (Cedars-Sinai).
School Age to Adolescence (6-18 years):
- Ongoing Monitoring:
- Continue regular eye exams every 6 months to monitor for progression of glaucoma, keratopathy, and other complications.
- Ensure proper corrective eyewear and consider tinted lenses to reduce light sensitivity (American Academy of Ophthalmology) (WebEye).
- Education and Support:
- Collaborate with educational institutions to ensure appropriate support and accommodations for visual impairments.
- Consider referral to support groups such as the Canadian Aniridia Foundation, CNIB, or other local organizations for additional resources and community support (Cedars-Sinai).
- Surgical Interventions:
- Evaluate and perform necessary surgical procedures for glaucoma, cataracts, or keratopathy as needed.
- Consider the use of Boston keratoprosthesis (KPro) for severe keratopathy cases (WebEye).
Adulthood (19+ years):
- Lifelong Monitoring:
- Schedule annual eye exams to monitor for late-onset complications and the progression of existing conditions.
- Continue to assess and manage glaucoma and keratopathy proactively (Cedars-Sinai).
- Advanced Treatments:
- Explore advanced treatment options such as stem cell therapy and artificial iris implants for eligible patients (American Academy of Ophthalmology).
- Regular Health Screenings:
- Encourage regular systemic health check-ups, especially for patients with WAGR syndrome, to monitor for potential non-ocular complications such as renal issues (American Academy of Ophthalmology) (WebEye).
Emergency Situations:
- Immediate medical attention is required for sudden vision loss or severe eye pain to prevent permanent damage (Cedars-Sinai).
References:
- American Academy of Ophthalmology. Diagnosis and Management of Aniridia.
- Cedars-Sinai. Aniridia Overview and Management.
- University of Iowa. Congenital Aniridia.
- Survey of Ophthalmology. Comprehensive Review of Clinical Features and Therapeutic Approaches.
This standard of care aims to provide a structured approach to managing aniridia, ensuring regular monitoring and timely interventions to maintain the best possible visual function and overall health of patients throughout their lives.