PAX6 Aniridia Syndrome

CLINICAL CHARACTERISTICS: PAX6 aniridia syndrome is a pan ocular and systemic disorder. Classic aniridia affects the iris (partial or full iris hypoplasia), cornea (corneal keratopathy), anterior segment (resulting in raised intraocular pressure and glaucoma), lens (cataract and lens subluxation), fovea (foveal hypoplasia), and optic nerve (optic nerve coloboma and hypoplasia). Individuals with classic aniridia characteristically show nystagmus and impaired visual acuity (usually 20/100 to…

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