Ocular Findings and Systemic Problems in Patients With Coloboma

Abstract

Purpose: Ocular coloboma is a rare malformation involving the iris, ciliary body, choroid, retina and the optic nerve. It develops as a result of the optical fissure closure defect during embryogenesis. In this study, we aimed to present the clinical features, accompanying ocular findings and systemic diseases of patients with any ocular coloboma presenting to our clinic. Materials and methods: Twenty seven eyes of 19 patients with ocular coloboma admitted to our clinic were included in this study. Age, gender, involved eye, visual acuity, cycloplegic refraction values, anterior and posterior segment findings, strabismus type and systemic problems were recorded. Results: Of all patients 12 were female and 7 were male. The mean age of the patients was 4.8 (0.3-9) years. Involvement was bilateral in 8 cases (42%), on the right in 5 cases, and on the left in 6 cases. Three eyes had iris coloboma only. Of the 22 eyes with chorioretinal coloboma, 15 involved the OD. Strabismus was observed in 13 (66.7%) patients, most of them (76.9%) were esotropic. The mean values of spheric refraction and visual acuity in eyes with coloboma were +2.40 and 3/10, and in eyes without coloboma +1.88 and 8/10 respectively. Eight patients (42%) had extraocular problems. These included growth retardation, Noonan syndrome, Type 1 Chiari malformation, congenital heart vessel anomaly, multycystic kidney, vaginal stricture, precocious puberty and inguinal hernia. Conclusion: Colobomas are rare malformations involving many ocular tissues. Because of its frequent association with ocular and systemic diseases, detailed eye examination, refractive error correction and monitorisation for possible complications should be performed continiously. © 2019 Gazi Eye Foundation. All rights reserved.