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00925njm 22002777a 4500 dc Bermejo-Sanchez, Eva author Martínez-Frías, María Luisa author 2002-10 We used data from the Spanish Collaborative Study of Congenital Malformations (ECEMC), to analyse some clinical and epidemiological aspects of congenital ocular defects. During the study period (April 76 to March 2000) and after excluding infants with Down síndrome (because all of them had epicanthal folds), a total of 1,257 had ocular defects, for a birth prevalence of 7,5 per 10,000 liveborn infants. This figure is similar to that observed by other authors. Microphthalmia is the most frequent ocular defect identified in the ECEMC data base (1,56 per 10,000). The frequency distribution of the ocular anomalies has been quite stable along time. Regarding the distribution by clinical presentation of ocular defects, the most frequent group is that of infants with multiple congenital anomalies (51,63%), followed by those with syndromes (33,97%). In relation to the etiological distribution of the ocular defects, we observed that these defects can be caused by environmental agents (3,74%), or genetic disorders. These last ones can be of monogenic origin (15,83%) of any type of inheritance, or caused by different types of chromosomal anomalies. Taking into account all these observations, some guidances could be delineated with respect to infants with congenital ocular defects. A careful examination searching for other associated anomalies must be performed, particularly of the central nervous system (CNS). On the other hand, after excluding the possibility that the defects could have been caused by an nvironmental factor, a chromosomal study with high resolution (850 bands) techniques has to be done, as well as FISH techniques if indicated, together with a complete family history. All these data together with the early detection of the ocular and other anomalies, are important for treatment and prognosis of the affected patients and to give counselling to the family. Moreover, in infants with CNS anomalies, an ophthalmologic examination should be mandatory and vice versa. Based in the results of our population, we consider extremely important to inform the population about the harmful effects of alcohol drinking during pregnancy, vaccinations and other preventive measures with respect to some infections during gestation. Boletín del ECEMC: Rev Dismor Epidemiol 2002; V (nº 1): 43-48 0210–3893 Boletín del ECEMC: Revista de Dismorfología y Epidemiología http://hdl.handle.net/20.500.12105/13631 Dismorfología Anomalías congénitas Epidemiología Defectos congénitos oculares: algunos aspectos clínicos y epidemiológicos