[Cases of congenital eye malformations in children]

The aim of this work was to present a clinical picture of congenital defects in the anterior and posterior segment of the eye and coexisting systemic developmental anomalies in a group of children during the infantile period.

We performed a retrospective analysis in a group of 1507 infants seen at our outpatient ophthalmology clinic in 2006-2010. Attention was focused on case histories of nine children (0.6%) with congenital defects of the eye. A routine ophthalmologic examination was done and photographs of the anterior and posterior segment of the eye were archived with the Ret - Cam II apparatus. Maternal risk factors during pregnancy and the perinatal period were analyzed, as well as genetic, familial, infectious, traumatic, metabolic, and toxic factors, and drugs which could have contributed to the pathology of the organ of vision. Additionally, congenital polydysplasia was confirmed using ultrasonography, radiography, and imaging techniques (USG, X-ray, MRI).

Congenital anomalies of the anterior and posterior segment of the eye were identified in the study group. Abnomalities of the anterior segment of the eye in four infants were in the form of congenital corneal anomalies (keratopathy, microcornea, sclerocornea, congenital mesenchymal dysgenesis), coloboma of the iris, and aniridia. Additionally, ectopic pupil, congenital cataract, aplasia of the lacrimal point, and palpebral coloboma were observed. Developmental anomalies of the posterior segment of the eye in the form of persistent hyperplastic primary vitreous body or primary fetal vasculature syndrome (PHVB or PFVS), choroid coloboma, coloboma of the optic nerve, and optic disc fovea were recognized in eight children. Anomalies of the anterior and posterior segment of the eye were observed in three children and were associated with microphthalmia, nystagmus, and strabismus. Moreover, systemic anomalies coexisting with ophthalmologic defects were confirmed in 6 children. They were seen in the heart (patent ductus arteriosus (PDA), patent foramen ovale (Pfo), atrial septal defect (ASD), nervous system (aplasia of the corpus callosum, hydrocephalus), osteoarticular system (talipes equinovarus, bifurcate rib, butterfly vertebra, dysmorphic splanchnocranium, contracture of the fingers), genitourinary system (cryptorchism, Wilms' tumor, vesicoureteral reflux grade IV), auditory organ (microtia, aplasia of the external auditory meatus, tympanic cavity, and internal ear), and skin (telangiectasia, syndactyly, appendages, and vegetations). Genetic tests revealed one case of an abnormal karyotype (49, XXXXX). Infections, metabolic disorders, and intoxications were excluded as the background for the anomalies.

The finding of a congenital eye anomaly should be followed by a search for other systemic anomalies. Developmental anomalies of the eye and other organs will require a multidisciplinary approach to treatment and care.