Isolated colobomatous microphthalmia 7 (MCOPCB7) is an ocular disorder characterized by small eyes and coloboma formation. Coloboma arises from defective fusion of the embryonic optic fissure causing defective tissue formation in certain ocular structures including the iris, choroid, and retina.
Colobomatous microphthlamia is genetically heterogeneous and may be isolated or featured in multiple syndromic disorders. MCOPCB7 is a non-syndromic disorder caused by ABCB6 deficiency.