Clinical Guidance

PAX6-related aniridia occurs either as an isolated ocular abnormality or as part of the Wilms tumor-aniridia-genital anomalies-retardation (WAGR) syndrome. Aniridia, a congenital eye anomaly, is usually detected at birth if fully penetrant. It is often the presenting feature of WAGR syndrome; children with WAGR syndrome are at significant risk of developing Wilms tumor during early childhood.

Diagnostic Criteria

PAX6-related aniridia includes isolated aniridia without systemic involvement and the Wilms tumor-aniridia-genital anomalies-retardation (WAGR) syndrome. No formal diagnostic criteria have been published.

Suggestive Findings

PAX6-related isolated aniridia should be suspected in probands who have the following clinical and imaging findings of aniridia with no other associated systemic abnormalities.

Clinical findings

Source: GeneReviews — "PAX6-Related Aniridia"

Management Guidelines

Evaluation Following Initial Diagnosis

To establish the extent of disease and needs in an individual diagnosed with aniridia (whether isolated or part of Wilms tumor-aniridia-genital anomalies-retardation [WAGR] syndrome), the following are recommended:

• Evaluation of visual acuity (not easily performed in infants) and documentation of the degree of iris tissue deficiency, and the presence of foveal and optic nerve hypoplasia in order to predict future visual function.

Surveillance Guidelines

Aniridia

Amblyopia and refractive error. Children younger than age eight years should be monitored every four to six months for refractive errors and detection and treatment of incipient or actual amblyopia (strabismic, refractive, or sensory). Glasses and other visual aids should be provided to optimize access to educational materials. Detection of later-onset eye pathology. Individuals with aniridia should have an annual ophthalmology review to detect issues such as corneal changes, raised intraocular pressure, and cataracts. Glaucoma. Individuals with aniridia should undergo annual glaucoma screening throughout life including: