The majority of isolated microphthalmos with coloboma are inherited in an autosomal dominant pattern [see also microphthalmia with coloboma, X-linked (MCOPCB1; 300345)]. Reports are mostly of single kinships. At least 5 additional genes are involved: MCOPCB2 (605738) results from mutations in a locus at 15q12-q15, MCOPCB3 (610092) is caused by mutations in the CHX10 (VSX2) gene (14q24), MCOPCB4 (251505) frequently has a cystic malformation as well and is likely an autosomal recessive condition but the mutation and its location remain unknown, MCOPCB5 (611638) is caused by a mutation in SHH (7q36), and MCOPCB6 (613703) results from mutations in the GDF3 gene (12p13.1).
For an X-linked form of non-syndromic microphthalmia with coloboma, see Microphthalmia with Coloboma (300345 ). For a syndromal form of X-linked microphthalmia, see Microphthalmia, Syndromic 1 (309800 ).