study of systemic malformations and chromosomal anomalies among patients with anophthalmia, microphthalmia and coloboma

purpose: to assess the frequency and type of associated malformations and chromosomal anomalies among patients with anophthalmia, microphthalmia, and coloboma in sistan and baluchestan province. methods: patients with a clinical diagnosis of anophthalmia, microphthalmia, or coloboma were examined to find any anomaly in craniofacial, muscle-skeletal, cardiac, neurologic and urogenital systems. also, karyotyping was performed to diagnose any chromosomal anomalies. results: different kinds of systemic anomalies were detected in six of 26 patients (23.1 %). none of the patients had any kind of chromosomal anomalies. neurologic disorders were the most frequent systemic anomalies among the patients (19.2%), followed by craniofacial anomalies (11.2 %). all of the systemic anomalies were found in anophthalmic and microphthalmic cases but not in cases with coloboma. conclusion: due to the likelihood of systemic disorders in patients with anophthalmia and microphthalmia, regular and systemic examinations seems necessary in these patients.