Study of Systemic Malformations and Chromosomal Anomalies among Patients with Anophthalmia, Microphthalmia and Coloboma

To assess the frequency and type of associated malformations and chromosomal anomalies among patients with anophthalmia, microphthalmia, and coloboma in Sistan and Baluchestan province.
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.
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.
Due to the likelihood of systemic disorders in patients with anophthalmia and microphthalmia, regular and systemic examinations seems necessary in these patients.