Maldevelopment of neural crest cells in patients with typical uveal coloboma

To clarify the pathogenesis of ocular and systemic anomalies associated with typical uveal coloboma.

The records of 72 patients with typical uveal coloboma (35 males and 37 females) treated at Nagoya City University Hospital during a 16-year period were reviewed.

Typical uveal coloboma was bilateral in 33 patients and unilateral in 35 patients; 4 patients were unclassified because of severe contralateral microphthalmos. Uveal coloboma was an isolated defect in 23 (37%) patients. Other ocular anomalies were present in 19 (31%) patients, systemic anomalies were found in 7 (11%) patients, and both other ocular and systemic anomalies were noted in 13 patients (21%). The associated ocular anomalies included microphthalmos in 28 eyes of 23 patients, persistent pupillary membrane in 28 eyes of 18 patients, and posterior embryotoxon in 20 eyes of 15 patients. The accompanying systemic anomalies included ear anomalies, retarded growth, and retarded development in 18 patients; heart anomalies in 13 patients; genital hypoplasia in 12 patients; and congenital facial palsy in 10 patients. The collection of malformations known as the CHARGE association was diagnosed in 14 (19%) patients.

Abnormal development of neural crest cells appeared to be responsible for the majority of associated ocular and systemic anomalies in patients in the present series, suggesting that typical uveal coloboma may be related to maldevelopment of the neural crest cells. The present findings indicated that ophthalmologists should be aware of the possible association of typical uveal coloboma with systemic anomalies.