Anterior Segment Manifestations in Patients with Genetic Disorders

Abstract

This study aimed to asses anterior segment manifestations in patients with different genetic disorders as this would help not only in making a precise diagnosis and appropriate referral, but also in management and genetic counseling. A total number of 100 patients with genetic disorders attending the Genetics clinic, Medical Genetics Department, Faculty of medicine, Ain Shams university and the Genetics clinic, Research institute of ophthalmology were included in this study. All cases were subjected to complete ophthalmological examination. Investigations as visual evoked potential (VEP), electroretinogram (ERG) & ocular ultrasonography were done whenever required. The patients were classified according to their final diagnosis into 3 groups; chromosomal disorders (25 patients), single gene disorders (69 patients) and multifactorial disorders (6 patients). Out of the 100 patients included in this study: • The age ranged from 5 days to 30 years. • 43 patients (43%) were males and 57 patients (57%) were females. • 51 patients (51%) had positive parental consanguinity while 49 patients (49%) had negative parental consanguinity. • 15 patients (15%) had positive family history regarding the genetic disorders while 85 (85%) patients had negative family history. • 12 patients (12%) had anterior segment anomalies.