Aniridia

Ocular and systemic findings in a survey of aniridia subjects

“…Patients with aniridia frequently have nystagmus and poor visual acuity, and they may experience further loss of vision as the result of associated ocular conditions. [2][3][4] In this study, the majority of subjects with aniridia had cataract and dry eye, and nearly one-half reported glaucoma and corneal disease. In subjects with aniridia and glaucoma, the majority required surgical treatment, suggesting a clinical course refractory to medical treatment.…”

“…1,2 Approximately two-thirds of cases are inherited via autosomal-dominant transmission, and approximately one-third are sporadic cases; rare cases of recessive inheritance have been described. 2,3 PAX6 mutations are associated with panocular abnormalities, affecting not only the iris but also the cornea, anterior chamber angle, lens, retina, and optic nerve, which can result in keratopathy, glaucoma, or other problems affecting vision. 2,3 Although the majority of cases of aniridia are associated with PAX6 mutation, there are few reported cases with no identified mutation of PAX6, and aniridia may be associated with deletions in both PAX6 and WT1 (Wilms' tumor) genes.…”

“…2,3 PAX6 mutations are associated with panocular abnormalities, affecting not only the iris but also the cornea, anterior chamber angle, lens, retina, and optic nerve, which can result in keratopathy, glaucoma, or other problems affecting vision. 2,3 Although the majority of cases of aniridia are associated with PAX6 mutation, there are few reported cases with no identified mutation of PAX6, and aniridia may be associated with deletions in both PAX6 and WT1 (Wilms' tumor) genes. 1,2 Although the understanding of the genotypic defects in aniridia has improved, various phenotypic manifestations have been described primarily through case reports and small case series.…”

A NovelPAX6Mutation in Chinese Patients with Severe Congenital Aniridia

“…It consists of 14 exons that is over 22 kb in length and encodes 422 amino acids. 9,10 As a transcriptional regulator, PAX6 is a key regulator for the organization of the developing eyes. 9 The Human PAX6 Allelic Variant Database (HPAVD) 11 has identified at least 500 variants.…”

PAX63′ deletion in a family with aniridia

“…The protein is abundantly expressed in the forebrain, early eye structures, ventral spinal cord, and endocrine pancreas and plays a major role in embryonic eye development. 2,3 The protein contains three functional domains: paired domain and homeodomain, separated by the proline/serine/threoninerich transactivation domain (PST). The paired domain comprises two structurally distinct DNA-binding subdomains: the N-terminal subdomain (NTS) and the C-terminal subdomain (CTS).…”