Cartwheel cataract, a specific sign of PAX6-related aniridia

A 35-year-old man, monitored for congenital aniridia, exhibited progressive visual loss and worsening of photophobia over 3 years.Next generation sequencing (NGS) identified a pathogenic heterozygous nonsense variant in PAX6.In addition to the ocular signs of the disease-nystagmus, ptosis, limbal insufficiency, iris hypoplasia, medically treated glaucoma, and foveal hypoplasia-examination revealed a peculiar, white, cartwheel cataract in both eyes, indicated on swept-source optical coherence tomography by hyperreflective posterior layers in the lens (Figures 1, A andB and2, A andB).Congenital aniridia is commonly associated with small congenital anterior subcapsular cataracts, present from birth, which rarely require surgery. 1 Posterior subcapsular cartwheel cataracts, instead, develop progressively in adulthood and can further worsen the vision.This unusual type of cataract, seen in association with congenital aniridia, is highly specific of a causal PAX6 gene anomaly.The patient was operated on, and his vision came back to its baseline.