Iris coloboma
 

The iris tissue is absent inferonasally so that the margin of the lens is visible inferiorly (there may be coloboma of the lens or inferior cataract). The condition is usually bilateral. There may be microphthalmos.  Other features: mention to the examiner that you would like to examine the fundus (fundi) for extension of the coloboma  which may involve the choroid and the optic disc the patient may have esotropia (or rarely exotropia) if the coloboma involves the macular area

Questions:

1. What conditions are associated with iris coloboma?

Answer
CHARGE syndrome in which there is coloboma, heart defects, choanal atresia.,retarded growth, genital abnormalities and ear anomalies.
Merckerl-Gruber's syndrome in which there are microcephaly, occipital encephalocele, congenital heart defects, polydactly, facial clefts and polycystic renal and hepatic diseases.
Sjogren-Larsson's syndrome with microphthalmos and mental retardation.

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Coloboma of the choroid and optic disc Return to the top