The specific clinical features of congenital aniridia in the childhood

Aim. The objective of the present study was to elucidate the specific features of the clinical picture of congenital aniridia in the children and adolescents and determine the frequency of complications of this pathology in the Russian Federation. Materials and methods. The study involved 37 children and adolescents at the age below 18 years (74 eyes) who were recruited from 37 unrelated families and diagnosed as having congenital aniridia at the Cheboksarsky branch of S.N. Fedorov Federal State Institute of Eye Microsurgery. All the children underwent the comprehensive ophthalmological examination based at this institution that included determination of the patients’ age and gender, diagnostics of keratopathy, cataract and glaucoma, measurements of foveal hypoplasia and hypoplasia of the optical nerve. In addition, visual acuity (VA) and the type of refraction were determined, gonioscopy and central keratopachymetry were performed on each patient. Results. The age of the patients varied from 2 months to 18 years (median: 3 years). The familial type of inheritance of congenital aniridia was documented in 16 patients whereas sporadic cases of this pathology were detected in 21 (56.7%) children. Microcornea and microphthalmus occurred in 4 and 2 eyes respectively. WAGR syndrome was diagnosed in 9.5% of the patients presenting with sporadic aniridia. Visual acuity was estimated at => 0.1 in 52% of the cases; it was => 0.3 in three patients. Abnormal refraction was documented in 88.3% of the children, marked hypermetropia was diagnosed in 15% of the examined eyes. The signs of aniridic keratopathy in the newborn infants and young children(aged below 3 years) were found in 64% of the cases. The youngest age at which the signs of aniridic keratopathy were apparent was 14 months. Cataract of different severity was documented in 77% of the eyes, glaucoma in 22.6%, foveal hypoplasia in 94%, and nystagmus in 86.5% of the eyes. The thickness of the central cornel region in the children at the age from 6 months to 2 years was 635+-47 microns compared with 606+-43 microns in the patients from 3 to 18 years of age. Conclusion. Congenital aniridia is a progressive panocular pathology affecting various structures of the eye and leading to the impairment of the visual function from the very early life.

congenital aniridia, aniridic keratopathy, pediatric ophthalmology, WAGR-syndrome, microphthalmus, microcornea, PAX6 gene, thickness of the central corneal region