Microphthalmia, isolated, with coloboma 9 is a developmental disorder of the eye, ranging from small size of a single eye to complete bilateral absence of ocular tissues.Also Ocular abnormalities such as; opacities of the cornea and lens, scaring of the retina and choroid, and other abnormalities may be present.
Aldahmesh et al. (2012) performed exome and autozygome analysis for a family that consists of normal third-cousin parents and two children with isolated colobomatous microphthalmia. The first child was an 11-year-old boy who had congenital small eyes and poor vision. Anterior segment examination showed microcornea, microphthalmos, and iris coloboma. His fundus examination revealed grossly anomalous discs and total coloboma involving the macula. The second child was a 9-year-old girl who also had small eyes and poor vision. Anterior segment and fundus examinations were similar to that of her brother. A homozygous frameshift mutation in the ODZ3 gene was identified in both affected child.