We report the case of a 2-month-old baby who was brought to our attention because his mother noted that he "doesn't gaze" as his sister did. The child presented with absence of gazing movement and nistagmus. An ophtalmological evaluation revealed a bilateral iris coloboma. Coloboma is a congenital eye defect that results from an abnormality fusion of the developing optic cup. All eye structures could be involved, but when it affects iris it could cause severe visual impairment, which is related to the extension of the defect. When a bilateral coloboma is diagnosed a complete evaluation should be made in order to rule out other congenital abnormalities as in CHARGE syndrome (Coloboma, Heart defect, Atresia coanae, Retarded growth and development, Genital anomalies, Ear anomalies and deafness). A long term follow up should be made to help the child and instruct the family on the best management of child's needs.
|Number of pages||1|
|Journal||Medico e Bambino|
|Publication status||Published - Jun 2010|
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health