coloboma (ocular coloboma, uveoretinal coloboma, coloboma of iris, choroid & retina)

Introduction

Defect of the eye, congenital, pathologic or artificial.

Etiology

see pathology

Epidemiology

• severe colobomatous malformations may cause as much as 10% of the childhood blindness
• coloboma of the optic nerve may occur

Pathology

• a group of malformations resulting from abnormal morphogenesis of the optic cup & stalk, & fusion of the fetal fissure (optic fissure)

Clinical manifestations

• clinical presentation of ocular coloboma is variable
• some individuals may present with minimal defects in the anterior iris leaf without other ocular defects
• more complex malformations create a combination of iris, uveoretinal &/or optic nerve defects with or without microphthalmia or even anophthalmia

More general terms

• eye disease (ophthalmopathy)

More specific terms

• cleft iris

Database

• OMIM: https://mirror.omim.org/entry/120200
• OMIM: https://mirror.omim.org/entry/120430