Macrophthalmia, Colobomatous, with Microcornea

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

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.

Treatment
Treatment Options: 

No treatment is known.
 

References
Article Title: 

References

Beleggia F, Li Y, Fan J, Elcioglu NH, Toker E, Wieland T, Maumenee IH, Akarsu
NA, Meitinger T, Strom TM, Lang R, Wollnik B. CRIM1 haploinsufficiency causes
defects in eye development in human and mouse. Hum Mol Genet. 2015 Apr
15;24(8):2267-73.

PubMedID: 25561690

Elcioglu, N. H.; Akin, B.; Toker, E.; Elcioglu, M.; Kaya, A.; Tuncali, T.; Wollnik, B.; Hornby, S.; Akarsu, N. A. : Colobomatous macrophthalmia with microcornea syndrome maps to the 2p23-p16 region. Am. J. Med. Genet. 143A: 1308-1312, 2007.

PubMedID: 17506091

Toker, E.; Elcioglu, N.; Ozcan, E.; Yenice, O.; Ogut, M. : Colobomatous macrophthalmia with microcornea syndrome: report of a new pedigree. Am. J. Med. Genet. 121A: 25-30, 2003.

PubMedID: 12900897

Bateman, J. B.; Maumenee, I. H. : Colobomatous macrophthalmia with microcornea. Ophthal. Paediat. Genet. 4: 59-66, 1984.

PubMedID: 6545385