Question of the Week

A 3-month-old infant presents with nystagmus that has been noted since early infancy. Ophthalmologic examination demonstrates bilateral aniridia and foveal hypoplasia. The pupil's appearance is shown in the photograph below. Both parents exhibit normal ocular findings, and there is no family history of aniridia.

Which of the following should be included in this child’s workup?

A. Reassure the family that the condition is limited to the eyes
B. Obtain genetic testing for a deletion involving PAX6 and WT1
C. Begin serial screening for retinoblastoma
D. Defer genetic testing unless genitourinary anomalies develop

Answer

Correct Answer: B. Obtain genetic testing for a deletion involving PAX6 and WT1

Explanation:

A child with sporadic (non-familial) aniridia should be evaluated for a chromosome 11p13 deletion involving both PAX6 and WT1. Loss of these genes results in Wilms tumor, aniridia, genitourinary abnormalities, and (intellectual) developmental delay, collectively known as WAGR syndrome. Because aniridia may be the initial manifestation of WAGR syndrome, genetic testing should be performed promptly, without waiting for additional systemic findings. Children with a confirmed WAGR deletion require ongoing renal surveillance due to an increased risk of Wilms tumor.

Option A is incorrect because aniridia can be a feature of systemic syndromes, such as WAGR syndrome. Isolated ocular involvement should not be assumed.
Option C is incorrect because WAGR syndrome increases the risk of Wilms tumor, not retinoblastoma.
Option D is incorrect because genitourinary anomalies or developmental delay may not be present at the time of aniridia diagnosis; therefore, genetic testing should not be delayed.

References:

American Academy of Ophthalmology EyeWiki. Aniridia. Updated May 28, 2026.

Hingorani, M., Hanson, I. & van Heyningen, V. Aniridia. Eur J Hum Genet 20, 1011–1017 (2012). https://doi.org/10.1038/ejhg.2012.100