Congenital aniridia (Online Mendelian Inheritance in Man identifier, 106210) is a rare, severely visually impairing disease caused principally by heterozygous mutation in the paired box 6 (PAX6) gene that orchestrates normal ocular development. 1 The disease results in underdevelopment or abnormal development of eye structures including the cornea, leading to a bilateral and progressive limbal stem cell insufficiency and conjunctivalization of the cornea called aniridia-associated keratopathy (AAK). However, clinical manifestation of AAK, rate of progression, and prognosis can vary widely across individuals, precluding the development of general guidelines for treatment. Congenital aniridia can result from any of more than 400 unique mutations in the PAX6 gene that may lead to a spectrum of clinical phenotypes. 2 Aniridia-associated keratopathy phenotype can vary from a fully transparent cornea to a thick, opaque, vascularized pannus at any stage of life. As clinical genetic analysis becomes more sophisticated and widespread, the clinical consequence of various PAX6 mutations requires more detailed attention. However, to date, genotypeephenotype studies in aniridia describe the entire eye, 3,4 providing only general assessment of corneal opacity. Accordingly, we performed detailed clinical characterization of AAK phenotype across a range of ages and in parallel documented PAX6 mutational status to determine how genotype influences the clinical phenotype of AAK. Adult and pediatric patients with clinically diagnosed congenital aniridia included in a patient registry maintained at
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