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.
Mutations in the TENM3 gene, encoding a transmembrane protein that is involved in the development of the visual pathway, have been found in patients with microphthalmia, isolated, with coloboma 9.
