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Year : 2021  |  Volume : 33  |  Issue : 2  |  Page : 201-204

A descriptive presentation of a family showing various features of aniridia and its genetic analysis

1 Department of Ophthalmology, Chacha Nehru Bal Chikitsalaya, New Delhi, India
2 Department of Anatomy and Genetics Lab, All India Institute of Medical Sciences, New Delhi, India

Correspondence Address:
Dr. Meenakshi Wadhwani
Chacha Nehru Bal Chikitsalaya, New Delhi - 110 031
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/kjo.kjo_78_20

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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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