Abstract
The abnormal neuroectodermal development due to the PAX 6 gene mutation results in aniridia, a rare disorder. We report herein a family that presented with aniridia, myopia, ptosis, glaucoma, cataract, and sensory nystagmus. This family provides a unique resource for the mutational analysis of the CRYBB1, CRYBA4, and PAX-6 gene. In addition, it is important to remember that mutations are often a part of these ocular abnormalities. Patient awareness, education, and involvement in treatment are essential to prevent amblyopia associated with the cataract and nystagmus related to aniridia.
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