Anophthalmos-microphthalmos spectrum: characterization of ophthalmic, systemic and genetic features in a large series. N.K. Ragge, A.J. Vivian, R.B. Jones, J.R. Collin. Moorfields Eye Hospital, London, England.

   Anophthalmos (absence of eye) is an extremely rare congenital anomaly occurring in 0.3-0.6/10,000 births. We reviewed 83 cases of anophthalmos (or extreme microphthalmic remnant), characterising the ocular, systemic and genetic features.
 There was a slight predominance of females in the series (44:39). Anophthalmos was unilateral in 28 and bilateral in 55 cases, often asymmetric. A larger proportion of males (29/39) than females (18/44) had bilateral anophthalmos. Systemic abnormalities were present in around 65% of unilateral and bilateral cases, and about the same proportion of males and females. Four patients had lid colobomas: one with a lid coloboma with microphthalmos on one side and cryptophthalmos on the other side, suggesting that these lid anomalies may form part of a spectrum.
 Systemic findings included: cleft lip and palate, preauricular skin tags, facial clefting, dysplastic kidneys, corpus callosal dysgenesis, Delleman's syndrome, CHARGE, skin loss over chest wall, and branchio-oculo-facial syndrome. Possible etiologies included gestational exposure to varicella, carbamazepine and i.v. drug abuse. Autosomal recessive inheritance was implied in five cases which were the product of consanguinous marriages. One case had a strong family history of Waardenburg's syndrome. Seven cases had a family history of developmental eye anomalies or early onset blindness and 13 cases had a family history of relevant systemic features, such as deafness or cleft palate. The case with brachio-oculo-facial syndrome had an affected sibling and a cousin with 'cat-eye' phenotype. Only one case was known to have a chromosome anomaly - a Turner's mosaic. Seven families had a history of miscarriage.
 This series adds significantly to the world literature on anophthalmos and further clinical and genetic analysis may provide clues to the developmental ocular genetic process.