Colobomatous macrophthalmia-microcornea syndrome
Synonyms: MACOM syndrome
A rare genetic eye disease characterized by microcornea coloboma of the iris and the optic disc axial enlargement of the globe staphyloma and severe myopia. Additional manifestations are mild cornea plana iridocorneal angle abnormalities with elevation of intraocular pressure and shallow anterior chamber depth. Variable expressivity of the phenotype has been described including unilateral or bilateral involvement or variable extent of coloboma among other features.
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 September 2023.
Newly diagnosed with
Colobomatous macrophthalmia-microcornea syndrome?
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.