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A rare case of congenital aniridia with an unusual run-on mutation in PAX6 gene

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Congenital aniridia is characterized by partial or complete absence of the iris.[1] The disease manifestations extend to almost every part of the eye, including the cornea, anterior chamber angle, lens,… Click to show full abstract

Congenital aniridia is characterized by partial or complete absence of the iris.[1] The disease manifestations extend to almost every part of the eye, including the cornea, anterior chamber angle, lens, fovea, and the optic nerve.[2] It has a global prevalence of approximately one in 40,000–100,000 live births.[2] Some of the clinical features like congenital nystagmus and foveal hypoplasia are present since birth, while others like cataract, aniridia‐associated keratopathy (AAK),

Keywords: case congenital; rare case; unusual run; aniridia; congenital aniridia; aniridia unusual

Journal Title: Indian Journal of Ophthalmology
Year Published: 2022

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