Abstract

Introduction Congenital anophthalmos and microphthalmos are reported to occur in 1–20/100 000 newborn infants. The conditions may be characterised by associated pathology in the fellow eye when unilateral disease is present and/or by complex systemic anomalies.

Methods We conducted a review of 75 patients with congenital anophthalmos or blind microphthalmos who were examined in our department from 1997 to 2008. Data on pregnancy, birth and family history were collected. Patients were screened for any pathology in the fellow eye in unilateral disease and for any systemic anomaly.

Results Sixteen patients had blind unilateral microphthalmos. To date there has been only one case of bilateral microphthalmos. Congenital anophthalmos was unilateral in 38 and bilateral in 20 patients. Only one of the children had a positive family history for anophthalmos. None of the mothers had had problems in pregnancy or during delivery. There were more associated systemic findings in anophthalmic (50%) than in microphthalmic (17.6%) patients. Typically, the pathology was characterised by Goldenhar's syndrome, facial clefts and developmental cerebral anomalies. Four out of 16 patients with unilateral microphthalmos (25%) and 18 out of 38 patients with unilateral anophthalmos (47.4%) had anomalies in the fellow eye, predominantly coloboma, dermoid, sclerocornea and glaucoma. On account of this pathology in a single eye, two (12.5%) of the patients with unilateral microphthalmos and 13 (34.2%) of the patients with unilateral anophthalmos, as well as all 20 patients with bilateral anophthalmos, were classified as legally blind. Therefore the overall blindness rate was 17.6% in microphthalmos and 3.4 times higher (56.9%) in anophthalmos.

Conclusions All children born with congenital anophthalmos or microphthalmos require a thorough clinical examination by an experienced ophthalmologist to rule out pathology in the fellow eye in unilateral disease and by a paediatrician to screen for any associated systemic anomalies.