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Systemic and ophthalmological anomalies in congenital anophthalmic or microphthalmic patients
  1. Michael P Schittkowski1,*,
  2. Rudolf F Guthoff2
  1. 1 University Medicine Goettingen, Eye Department, Germany;
  2. 2 Univerity Eye Department Rostock, Germany
  1. Correspondence to: Michael Schittkowski, Eye Department, University Medicine Goettingen, R.-Koch-Str. 40, Goettingen, D 37073, Germany; mail{at}


Introduction: Congenital anophthalmos and microphthalmos do occur in 1-20/ 100,000 newborns. The conditions may be characterised by associated pathology in the fellow eye when unilateral disease is present and/or by complex systemic anomalies.

Methods: 75 congenital anophthalmic or microphthalmic patients who were examined in our department during the period from 1997 to 2008 could be included. Data were collected for pregnancy, birth and family history. 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; there has been only 1 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. 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.

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