Coloboma of iris
A rare genetic developmental defect of the eye characterized by a uni- or bilateral notch gap hole or fissure typically located in the inferonasal quadrant of the eye involving only the pigment epithelium or the iris stroma (incomplete) or involving both (complete) manifesting with iris shape anomalies (e.g. ‘keyhole’ or oval pupil) and/or photophobia. Association with colobomata in other parts of the eye (incl. ciliary body zonule choroid retina optic nerve) and complex malformation syndromes (such as CHARGE syndrome) may be observed.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
Newly diagnosed with
Coloboma of iris?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Advocacy Organizations
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
For a list of clinical trials in this disease area, please click here.