RESUMO
OBJECTIVE: The objective of this study was to perform an epidemiological analysis of the frequency of anophthalmia/microphthalmia (A/M) in syndromes identified in newborn infants in Spain. PATIENTS AND METHODS: Data of the Spanish Collaborative Study of Congenital Malformations during the period of 1976-1994, corresponding to more than 1,200,000 births, was analyzed. Among these, 86 newborn infants with A/M presented some of the recognized syndromes. RESULTS: There is a wide etiological heterogeneity among the syndromes with this ocular defect, with chromosomal syndromes being the most frequent (67.9% of total syndromes with A/M), followed by monogenic syndromes (19.1%), environmental (9.5%) and those of unknown etiology (3.6%). CONCLUSIONS: Some guidelines when a baby is born with A/M are derived from this study. First, given the tendency of the defect to present together with other anomalies, it is advisable to perform a detailed study to rule out or to confirm the existence of other defects. Adequate samples should be taken (even in stillborn infants) for cytogenetic study. Examine carefully the prenatal history, looking for chronic diseases, infectious processes or exposure to teratogens. Depending on the baby's survival, follow-up of the psychomotor development should be made. All of these aspects are always important in malformed babies, but especially in infants with A/M given the tendency of the defect to present in syndromes as the etiologic diagnosis determines the counselling regarding the risk of recurrence, detection of carriers in some cases and possible prenatal diagnosis.