Discussion in 'Spot Diagnosis' started by Egyptian Doctor, Dec 30, 2013.
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.
Coloboma in association with renal anomalies.
Separate names with a comma.