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.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version March 2024
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Coloboma of macula?
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