Iridogoniodysgenesis type 2

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Disease Overview

Iridogoniodysgenesis type 2 is a rare condition that affects the eyes. People with this condition are born with malformations of the iris (the colored part of the eye) and cornea, which eventually lead to early-onset glaucoma. The irides of affected people are unusually dark. For example, studies of the condition often describe ‘brown’ irides as a dark, chocolate color and ‘blue’ irides as a very dark, slate gray. The iris also lacks the usual pattern and has a smooth appearance. Iridogoniodysgenesis type 2 is caused by changes (mutations) in the PITX2 gene and is inherited in an autosomal dominant manner.[11005][11006] Management is based on the signs and symptoms present in each person and is generally focused on the screening and eventual treatment of glaucoma.[11005]


Synonyms

  • IRID2

For more information, visit GARD.

National Organization for Rare Disorders