Macrophthalmia, Colobomatous, with Microcornea Clinical CharacteristicsOcular 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. GeneticsThis 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 dominantTreatmentTreatment Options: No treatment is known. ReferencesArticle Title: CRIM1 haploinsufficiency causes defects in eye development in human and mouse Beleggia F, Li Y, Fan J, Elcioglu NH, Toker E, Wieland T, Maumenee IH, AkarsuNA, Meitinger T, Strom TM, Lang R, Wollnik B. CRIM1 haploinsufficiency causesdefects in eye development in human and mouse. Hum Mol Genet. 2015 Apr15;24(8):2267-73. PubMed ID: 25561690 Colobomatous Macrophthalmia with microcorna syndrome maps to the 2p23-p16 region 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. PubMed ID: 17506091 Colobomatous macrophthalmia with microcorna syndrome: report of a new pedigree 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. PubMed ID: 12900897 Colobomatous macrophthalmia with microcornea Bateman, J. B.; Maumenee, I. H. : Colobomatous macrophthalmia with microcornea. Ophthal. Paediat. Genet. 4: 59-66, 1984. PubMed ID: 6545385 Read more about Macrophthalmia, Colobomatous, with Microcornea
CRIM1 haploinsufficiency causes defects in eye development in human and mouse Beleggia F, Li Y, Fan J, Elcioglu NH, Toker E, Wieland T, Maumenee IH, AkarsuNA, Meitinger T, Strom TM, Lang R, Wollnik B. CRIM1 haploinsufficiency causesdefects in eye development in human and mouse. Hum Mol Genet. 2015 Apr15;24(8):2267-73. PubMed ID: 25561690
Colobomatous Macrophthalmia with microcorna syndrome maps to the 2p23-p16 region 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. PubMed ID: 17506091
Colobomatous macrophthalmia with microcorna syndrome: report of a new pedigree 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. PubMed ID: 12900897
Colobomatous macrophthalmia with microcornea Bateman, J. B.; Maumenee, I. H. : Colobomatous macrophthalmia with microcornea. Ophthal. Paediat. Genet. 4: 59-66, 1984. PubMed ID: 6545385
