Megalocornea

Last revised by Andrew Murphy on 16 Feb 2021

Megalocornea is a rare bilateral congenital ocular defect characterized by a corneal diameter of more than 13 mm with the deep anterior chamber and normal intraocular pressure 1-3.

Megalcornea is associated with Chordin-like 1 (CHRDL1) gene mutation 1,2. It is associated with multiple anomalies few of them includes:

Clinical presentation of megalcornea is varied. A few features include premature cataract formation at an early age of 30 years, blurring of vision, glaucoma, juvenile lens dislocation, and corneal dystrophy, iris atrophy retinal detachment.

The differential of megalcornea includes:

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