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Abstract
Aims: To attempt the detection of possible etiological factors in the origin of isolated ocular, mainly iris coloboma. Methods: The data set of the Hungarian Case-Control Surveillance of Congenital Abnormalities, 1980–2002, was used. Exposure data and family history were based on (1) prospective medical records, (2) retrospective maternal information, and (3) information obtained by regional nurses at home visit. Results: Of 46 cases, 40 were affected with iris coloboma and 19 had bilateral manifestation. The positive family history indicated a hereditary origin in 4.3% (2/46) of cases. An association was found between the isolated ocular coloboma and hydroxyethylrutoside treatment (adjusted POR with 95% CI: 5.4, 2.2–12.9). Another association was seen between isolated ocular coloboma and hypothyroidism (adjusted OR with 95% CI = 12.6, 3.0–52.7), but it was based only on two cases. Conclusions: It is necessary to study the preventable environmental factors in the origin of these ocular defects.