Coloboma of the Iris There is a spectrum of disease involving malformation of the eye, known as the microphthalmia-anophthalmia-coloboma spectrum. Coloboma can be associated with microphthalmia and with optic cysts, which are part of this spectrum. Many syndromes involving multisystem malformations include coloboma, for example: CHARGE syndrome - Coloboma, Heart anomaly, choanal (nasal) Atresia, mental Retardation, Genital and Ear abnormalities. Epidermal naevus syndrome. Cat eye syndrome. Velo-cardiofacial syndrome. DiGeorge's syndrome. Kabuki syndrome. reference:http://www.patient.co.uk/doctor/Coloboma.htm Coloboma in association with renal anomalies.