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Macrophthalmia, Colobomatous, with Microcornea

OMIM ID:

autosomal dominant

Macrophthalmia, Colobomatous, with Microcornea

Alternate Names

MACOM

Defective Genes

CRIM
FEZ2

Clinical Characteristics

Ocular Features

Several families have been reported in which multiple family members had various ocular malformations including bilateral extensive colobomas from the iris to the optic nerve, increased axial length, microcornea, posterior staphylomas, and high myopia. In a three generation Turkish family with 13 affected individuals other features such as flatter than normal corneas, shallow anterior chambers and iridocorneal angle abnormalities with elevated intraocular pressures were described.  

Systemic Features

None have been reported.

Genetics

Inheritance

This is a contiguous gene deletion disorder located at 2p22.2 which involves the CRIM1 and FEZ2 genes.  Penetrance is high in this presumed autosomal dominant condition.

Pedigree

Autosomal dominant

Autosomal dominant disorders require only one mutation for the disease to be expressed.  Since an affected parent has two chromosomes, only one of which has the mutant gene, parents can expect that half (50%) of their children will receive that one and inherit the disease.  It is common for individuals that inherit the mutation, however, to not have evidence of the disease (nonpenetrance).

Image
Sample pedigree of autosomal dominant inheritance

Autosomal dominant inheritance leads to a vertical pattern of transmission

Treatment & Management

No treatment is known.
 

Selected Resources

Web Resources

Publications

Displaying 1 - 4 of 4

Colobomatous macrophthalmia with microcornea

PubMedID: 6545385

Colobomatous macrophthalmia with microcornea syndrome maps to the 2p23‐p16 region

PubMedID: 17506091

Colobomatous macrophthalmia with microcornea syndrome: Report of a new pedigree

PubMedID: 12900897

CRIM1 haploinsufficiency causes defects in eye development in human and mouse

PubMedID: 25561690