CASE REPORT- A CASE REPORT OF FAMILIAL ANIRIDIA

Asmita Mittal* MBBS, Saurabh Jain MBBS, Gaurav Sharma MS, Deeksha Kumari Dogra MBBS and Vishakha Dhatwalia MBBS

ABSTRACT

The rare genetic condition known as aniridia (ANIRIDIA II, AN 2) is characterized by varying degrees of iris hypoplasia or absence along with other ocular characteristics, some of which are present from birth and some of which develop gradually over time.[1][2]

Congenital partial or whole iris hypoplasia is the main diagnostic characteristic; foveal hypoplasia with decreased visual acuity is nearly always present and is linked to early onset nystagmus. Cataract, glaucoma, and corneal opacification and vascularization due to a lack of limbal stem cells are other commonly related ocular disorders, usually with a later onset.[3]

In the vast majority of instances, aniridia occurs isolated without systemic involvement owing to dominantly inherited mutations or deletions of the paired box gene-6 (PAX6). It can also arise, in a minority of cases as part of the WAGR (Wilms tumor-aniridia-genital anomalies-retardation) contiguous gene syndrome in which the neighboring PAX6 and Wilms tumor (WT1) genes are both deleted.

Keywords: .