A patient with Noonan's syndrome and fundal colobomata in both eyes is described. To our knowledge, this is the first report of the association of colobomata with Noonan's syndrome. Although the patient had poor sight since early childhood and dyspnea on exertion as a teenager, the diagnosis of Noonan's syndrome was not made until early adulthood. We hope this report will encourage recognition ...

An 18-year-old man presented with poor vision in both eyes that had been present since birth. Central corneal opacity and inferior peripheral sclerocornea with iridocorneal adhesion were observed upon anterior segment examination of the left eye. A coloboma of the iris was observed in the patient's right eye, which manifested as a small notch in the inferior pupillary margin and cataract. Fundu...

A male infant was born with a bilateral cleft lip and/or palate, absent nasal structures, left anophthalmos, right coloboma, and bilateral fifth digit clinodactly. Brain magnetic resonance imaging revealed severe asymmetric hydrocephalus, absent corpus callosum, a suprasellar mass with a high riding third ventricle, and no pituitary gland. He had a normal male karyotype and normal prenatal labo...

CHARGE syndrome has been estimated to occur in 1:10,000 births worldwide and shows various clinical manifestations. It is a genetic disorder characterized by a specific and a recognizable pattern of anomalies. The major clinical features are ocular coloboma, heart malformations, atresia of the choanae, growth retardation, genital hypoplasia, and ear abnormalities. The chromodomain helicase DNA-...

Bitemporal visual field defects are usually associated with lesions of the optic chiasm. The field loss may be caused by pressure, primary neoplasia, arachnoiditis, or demyelinating disease. While the findings of a bitemporal defect should always direct attention to these possibilities, a careful inspection of the optic disc may reveal an ocular cause for the field loss. The purpose of this com...

PURPOSE The aim of this study is to describe the management of cataract and refractory glaucoma in a case of congenital aniridia (AN)-1. METHODS In an 18-year-old female patient affected by congenital AN, bilateral coloboma of the zonula and lens, cataract and glaucoma, pars plana vitrectomy, cataract extraction and subsequent transcorneal ciliary body argon laser photocoagulation were perfor...

PURPOSE To review the recent literature and describe the authors' experience with congenital upper eyelid coloboma. METHODS In this review, we will summarize the embryologic and etiopathogenetic bases of congenital upper eyelid coloboma, and study the published clinical reports. We will also attempt to briefly shed some light on the rarer syndromic curiosities associated with upper eyelid col...

Urkude J, et al. BMJ Case Rep 2017. doi:10.1136/bcr-2017-221549 Description Case 1: A posterior segment B-scan ultrasonography in a patient with typical iris coloboma and total cataract, showed well-defined excavated area in the inferior part just below the optic disc (red arrow) with the absence of retinochoroidal layer, suggestive of fundal coloboma (yellow arrow) (figure 1A). Involvement of ...

PURPOSE To report the anatomical and functional outcomes of surgery for retinal detachment associated with chorioretinal colobomas. METHODS In this retrospective interventional case series, 28 eyes of 28 patients (including 18 male subjects) who had undergone surgery for retinal detachment associated with chorioretinal colobomas were evaluated regarding the type of intervention, final visual ...