Colobomatous macrophthalmia-microcornea syndrome

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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 Data version June 2024

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