To cite: Vasileiadis GT, Frangouli O. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/bcr-2015210979 DESCRIPTION A term female infant was born by forceps delivery after failed ventouse. There was a history of maternal fever and antenatal antibiotics. She was in good condition after birth but was noticed to have an ‘enlarged and cloudy right eye’. Elevated C reactive p...

PURPOSE To describe the ophthalmic manifestations in a series of children with congenital lamellar ichthyosis. These cases presented with varying types of eyelid abnormality associated with the systemic disease. The clinical features and ophthalmic management were studied. METHODS The case histories of three children presenting to the oculoplastic clinic were reviewed. All were diagnosed with...

Acrodermatitis enteropathica is the clinical expression of congenital zinc deficiency and is now treated with supplemental zinc. This report details the ocular histopathology of a child who died before efficacious treatment was available. The findings include corneal epithelial thinning and loss of polarity, anterior corneal scarring and loss of Bowman's membrane, cataract formation, ciliary bo...

PURPOSE Aniridia is phenotyically and genetically heterogeneous. This study is to summarize the phenotypes and identify the genetic defect responsible for aniridia and congenital progressive cataract in a three generation Chinese family. METHODS A detailed family history and clinical data from patients were collected by ophthalmologic examination, including visual acuity, slit-lamp examinatio...

With the aid of the electron microscope, the ultrastructural changes associated with bullous keratopathy were studied in corneal specimens from a patient with congenital hereditary corneal dystrophy and from one with congenital glaucoma. Within the subepithelial bullae of both specimens, infoldings of the basal plasma membrane of the basal epithelial cells could be observed to contain basement-...

A 25-week-old neonate was noted to have unilateral corneal edema and buphthalmos at birth following a forceps assisted delivery. Ten days later, examination of the neonate under anesthesia showed a central corneal perforation with a possible retinal detachment. By this time the neonate’s affected eye was deemed unsalvageable, and therefore an enucleation was performed with insertion of an ocula...

AIMS To assess retrospectively the prognosis and complications of corneal grafting for congenital opacities. METHODS Fifty eight eyes of infants and young children with congenital corneal opacities were studied retrospectively. Preoperative diagnoses included sclerocornea (27 eyes), Peters' anomaly (17 eyes), partial sclerocornea (12 eyes), and congenital glaucoma (two eyes). Penetrating kera...

A mild trauma in the form of a thermal burn was applied to corneas of vitamin A--deficient rats and their pair-fed controls. The control corneas routinely showed rapid re-epithelialization without stromal changes. The corneas of deficient rats recovered more slowly, frequently exhibiting stromal edema, leukoma, and sometimes ulceration. Because collagenase is thought to initiate collagen destru...

PURPOSE To investigate the relationship of (lymph) angiogenesis and survival time of human cornea grafts. METHODS This was a case series study. A total of 250 patients requiring a second keratoplasty were screened according to our inclusion criteria: 1) only cases with primary non-inflamed cornea diseases were included; and 2) all primary diseased cornea specimens from the first corneal trans...