Anophthalmos, microphthalmos, and Coloboma in the United kingdom: clinical features, results of investigations, and early management

Purpose: To describe the clinical features of children with anophthalmos, microphthalmos, and typical coloboma (AMC).

Design: Descriptive, observational, cross-sectional study of the United Kingdom.

Participants: A total of 135 children with AMC newly diagnosed over an 18-month period beginning in October 2006.

Methods: Cases were identified using active surveillance through an established ophthalmic surveillance system. Eligible cases were followed up 6 months after first notification.

Main outcome measures: Phenotypic characteristics, both ocular and systemic, clinical investigations, causes, and interventions.

Results: A total of 210 eyes (of 135 children) were affected by AMC, of which 153 had isolated coloboma or coloboma with microphthalmos. The most common colobomatous anomaly was a chorioretinal defect present in 109 eyes (71.2%). Some 44% of children were bilaterally visually impaired. Systemic abnormalities were present in 59.7% of children, with craniofacial anomalies being the most common. Children with bilateral disease had a 2.7 times higher odds (95% confidence interval, 1.3-5.5, P = 0.006) of having systemic involvement than unilaterally affected children. Neurologic imaging was the most frequent investigation (58.5%) performed. Less than one third (30.3%) of the children with microphthalmos had ocular axial lengths measured. Eight children had confirmed genetic mutations. Approximately half (49.2%) of the children required ocular intervention.

Conclusions: Colobomatous defects were the most common phenotype within this spectrum of anomalies in the United Kingdom. The high frequency of posterior segment colobomatous involvement means that a dilated fundal examination should be made in all cases. The significant visual and systemic morbidity in affected children underlines the importance of a multidisciplinary approach to management.