Coloboma of macula
Coloboma of macula is a rare non-syndromic developmental defect of the eye characterized by well-circumscribed oval or rounded usually unilateral atrophic lesions of varying size presenting rudimentary or absent retina choroid and sclera located at the macula leading to decreased vision and on occasion other symptoms (e.g. strabismus). It is usually isolated but may also be associated with Down syndrome skeletal or renal disorders.
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 macula?
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.